#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FAM169B	283777	broad.mit.edu	37	15	99023882	99023882	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr15:99023882T>A	ENST00000558256.1	-	4	380	c.131A>T	c.(130-132)aAa>aTa	p.K44I	FAM169B_ENST00000332908.4_Missense_Mutation_p.K44I	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	44										large_intestine(3)|lung(3)|urinary_tract(1)	7						CCACAGGATTTTAGCTTGTTC	0.453																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(130-132)aAa>aTa		family with sequence similarity 169, member B							114.0	112.0	112.0					15																	99023882		1916	4140	6056	SO:0001583	missense	283777							g.chr15:99023882T>A		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.131A>T	15.37:g.99023882T>A	ENSP00000453554:p.Lys44Ile					FAM169B_ENST00000332908.4_Missense_Mutation_p.K44I	p.K44I	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			4	380	-			44					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.131A>T	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415563	0.83449	.	.	ENSG00000185087	ENST00000332908	T	0.37915	1.17	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.55990	1.75	0.41131	D	0.985881	D	0.89917	1.0	D	0.91635	0.999	T	0.59198	-0.7499	10	0.87932	D	0	-20.5479	14.039	0.64663	0.0:0.0:0.0:1.0	.	44	Q8N8A8	F169B_HUMAN	I	44	ENSP00000332615:K44I	ENSP00000332615:K44I	K	-	2	0	FAM169B	96841405	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.401000	0.59716	1.982000	0.57802	0.533000	0.62120	AAA		0.453	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		18	76	0	0	0	1	0	18	76				
ZFP28	140612	broad.mit.edu	37	19	57050546	57050546	+	Silent	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:57050546C>T	ENST00000301318.3	+	1	230	c.159C>T	c.(157-159)ctC>ctT	p.L53L	ZFP28_ENST00000591844.1_Silent_p.L53L|ZFP28_ENST00000594386.1_3'UTR|AC005498.3_ENST00000593218.1_lincRNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGAATGGCCTCGCATCCAAAG	0.697																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(157-159)ctC>ctT		ZFP28 zinc finger protein							7.0	9.0	8.0					19																	57050546		2081	4101	6182	SO:0001819	synonymous_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57050546C>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.159C>T	19.37:g.57050546C>T						ZFP28_ENST00000591844.1_Silent_p.L53L|ZFP28_ENST00000594386.1_3'UTR	p.L53L	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	1	230	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	53					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	c.159C>T	CCDS12946.1																																																																																				0.697	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		5	8	0	0	0	1	0	5	8				
ERBB3	2065	broad.mit.edu	37	12	56495393	56495393	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:56495393G>A	ENST00000267101.3	+	28	4023	c.3583G>A	c.(3583-3585)Gag>Aag	p.E1195K	ERBB3_ENST00000553131.1_Missense_Mutation_p.E436K|PA2G4_ENST00000303305.6_5'Flank|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1136K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E315K|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Missense_Mutation_p.E552K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1195					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGATGAAGATGAGGAGTATGA	0.532																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3583-3585)Gag>Aag		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							91.0	86.0	88.0					12																	56495393		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495393G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3583G>A	12.37:g.56495393G>A	ENSP00000267101:p.Glu1195Lys					ERBB3_ENST00000549832.1_Missense_Mutation_p.E315K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E552K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1136K|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Missense_Mutation_p.E436K	p.E1195K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		28	4023	+			1195					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3583G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904292	0.72868	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.81078	-1.26;-1.24;-1.25;-1.45;-1.23	5.63	5.63	0.86233	.	0.081077	0.51477	D	0.000100	T	0.75369	0.3840	L	0.32530	0.975	0.58432	D	0.999999	P;P;B	0.40050	0.61;0.7;0.2	B;B;B	0.39935	0.271;0.314;0.088	T	0.78685	-0.2108	10	0.72032	D	0.01	.	17.1912	0.86880	0.0:0.0:1.0:0.0	.	1136;315;1195	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	K	1195;552;1136;318;436;315	ENSP00000267101:E1195K;ENSP00000399178:E552K;ENSP00000408340:E1136K;ENSP00000449129:E436K;ENSP00000448729:E315K	ENSP00000267101:E1195K	E	+	1	0	ERBB3	54781660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.813000	0.69201	2.650000	0.89964	0.655000	0.94253	GAG		0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			13	38	0	0	0	1	0	13	38				
GAREM	64762	broad.mit.edu	37	18	29848516	29848516	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr18:29848516T>A	ENST00000269209.6	-	6	1952	c.1949A>T	c.(1948-1950)tAt>tTt	p.Y650F	GAREM_ENST00000399218.4_Missense_Mutation_p.Y649F			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	650					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AGGGTAACTATAACTCCTGCT	0.527																																						ENST00000399218.4																			0											c.(1945-1947)tAt>tTt		GRB2 associated, regulator of MAPK1							72.0	72.0	72.0					18																	29848516		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29848516T>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1949A>T	18.37:g.29848516T>A	ENSP00000269209:p.Tyr650Phe					GAREM_ENST00000269209.6_Missense_Mutation_p.Y650F	p.Y649F	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	2001	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1946A>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940318	0.52972	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.18016	2.25;2.24	5.73	4.56	0.56223	.	0.120935	0.64402	N	0.000019	T	0.24586	0.0596	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.65815	0.992;0.995	P;P	0.61477	0.715;0.889	T	0.01232	-1.1411	10	0.31617	T	0.26	-16.6697	11.9432	0.52913	0.1305:0.0:0.0:0.8694	.	650;649	Q9H706;Q9H706-3	FA59A_HUMAN;.	F	649;650	ENSP00000382165:Y649F;ENSP00000269209:Y650F	ENSP00000269209:Y650F	Y	-	2	0	FAM59A	28102514	1.000000	0.71417	0.958000	0.39756	0.972000	0.66771	3.463000	0.53050	0.990000	0.38787	0.529000	0.55759	TAT		0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		9	40	0	0	0	1	0	9	40				
NBPF1	55672	broad.mit.edu	37	1	16895685	16895685	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:16895685C>G	ENST00000430580.2	-	23	3384	c.2497G>C	c.(2497-2499)Gat>Cat	p.D833H	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	833	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TAACCTTCATCCCAGGACTCC	0.478																																						ENST00000430580.2																			0											c.(2497-2499)Gat>Cat		neuroblastoma breakpoint family, member 1							62.0	64.0	63.0					1																	16895685		1581	3284	4865	SO:0001583	missense	55672					cytoplasm		g.chr1:16895685C>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2497G>C	1.37:g.16895685C>G	ENSP00000474456:p.Asp833His					NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Intron	p.D833H	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3384	-			833			NBPF 4.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2497G>C																																																																																					0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		22	344	0	0	0	1	0	22	344				
ALOX15	246	broad.mit.edu	37	17	4534988	4534988	+	Silent	SNP	G	G	A	rs181689632		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:4534988G>A	ENST00000570836.1	-	15	1992	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	ALOX15_ENST00000545513.1_Silent_p.A654A|ALOX15_ENST00000293761.3_Silent_p.A632A|ALOX15_ENST00000574640.1_Silent_p.A593A			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	632	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CCTTATCCAGGGCAGCCAGCT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19495	0.0		0.001	False		,,,				2504	0.0					ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1894-1896)gcC>gcT		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						166.0	154.0	158.0					17																	4534988		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4534988G>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1896C>T	17.37:g.4534988G>A						ALOX15_ENST00000293761.3_Silent_p.A632A|ALOX15_ENST00000574640.1_Silent_p.A593A|ALOX15_ENST00000545513.1_Silent_p.A654A	p.A632A			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	15	1992	-			632			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1896C>T	CCDS11049.1																																																																																				0.582	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			36	124	0	0	0	1	0	36	124				
FXYD1	5348	broad.mit.edu	37	19	35632082	35632082	+	Silent	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:35632082C>G	ENST00000588081.1	+	3	199	c.141C>G	c.(139-141)ctC>ctG	p.L47L	FXYD1_ENST00000588715.1_Silent_p.L47L|FXYD7_ENST00000270310.2_5'Flank|FXYD1_ENST00000589209.1_Silent_p.L47L|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000588607.1_Silent_p.L47L|FXYD7_ENST00000586063.1_5'Flank|FXYD1_ENST00000351325.4_Silent_p.L47L|FXYD1_ENST00000455515.2_Silent_p.L47L|LGI4_ENST00000493050.1_Intron|FXYD7_ENST00000588265.1_5'Flank			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	47					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGGGATCCTCTTCATCCTGG	0.647																																						ENST00000588081.1																			0				lung(3)	3						c.(139-141)ctC>ctG		FXYD domain containing ion transport regulator 1							101.0	75.0	84.0					19																	35632082		2203	4300	6503	SO:0001819	synonymous_variant	5348				muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35632082C>G		CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"""phospholemman"""	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.141C>G	19.37:g.35632082C>G						CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000589209.1_Silent_p.L47L|FXYD1_ENST00000588715.1_Silent_p.L47L|FXYD1_ENST00000588607.1_Silent_p.L47L|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000455515.2_Silent_p.L47L|FXYD1_ENST00000351325.4_Silent_p.L47L	p.L47L			O00168	PLM_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		3	199	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		47					A8K196	Silent	SNP	ENST00000588081.1	37	c.141C>G	CCDS12445.1																																																																																				0.647	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1	NM_021902		9	38	0	0	0	1	0	9	38				
ZNF280B	140883	broad.mit.edu	37	22	22843645	22843645	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr22:22843645C>G	ENST00000406426.1	-	4	821	c.79G>C	c.(79-81)Gat>Cat	p.D27H	ZNF280B_ENST00000360412.2_Missense_Mutation_p.D27H			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGCTCAGCATCTTCGTCATCT	0.373																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(79-81)Gat>Cat		zinc finger protein 280B							157.0	135.0	143.0					22																	22843645		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843645C>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.79G>C	22.37:g.22843645C>G	ENSP00000385998:p.Asp27His					ZNF280B_ENST00000406426.1_Missense_Mutation_p.D27H	p.D27H	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	854	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	27						Missense_Mutation	SNP	ENST00000406426.1	37	c.79G>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693616	0.48202	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.04970	3.52;3.52	4.39	3.37	0.38596	.	.	.	.	.	T	0.18841	0.0452	M	0.63843	1.955	0.35696	D	0.815212	D	0.89917	1.0	D	0.87578	0.998	T	0.08046	-1.0741	9	0.87932	D	0	-12.3162	8.3697	0.32408	0.0:0.8918:0.0:0.1082	.	27	Q86YH2	Z280B_HUMAN	H	27	ENSP00000385998:D27H;ENSP00000353586:D27H	ENSP00000353586:D27H	D	-	1	0	ZNF280B	21173645	0.999000	0.42202	0.715000	0.30552	0.661000	0.39034	3.850000	0.55918	1.211000	0.43351	0.460000	0.39030	GAT		0.373	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		35	100	0	0	0	1	0	35	100				
BCL9L	283149	broad.mit.edu	37	11	118772025	118772025	+	Silent	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:118772025G>A	ENST00000334801.3	-	6	3391	c.2427C>T	c.(2425-2427)ccC>ccT	p.P809P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	809	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGAGGCCCTGGGGCCCCATCA	0.607																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(2425-2427)ccC>ccT		B-cell CLL/lymphoma 9-like							42.0	39.0	40.0					11																	118772025		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772025G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2427C>T	11.37:g.118772025G>A						BCL9L_ENST00000526143.1_5'UTR	p.P809P	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3391	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	809			Met-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.2427C>T	CCDS8403.1																																																																																				0.607	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		11	39	0	0	0	1	0	11	39				
CDKN2A	1029	broad.mit.edu	37	9	21970900	21970900	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr9:21970900C>A	ENST00000304494.5	-	2	728		c.e2+1		CDKN2A_ENST00000497750.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCAGTCCTCACCTGAGGGACC	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000497750.1		17																	1328	Whole gene deletion(1316)|Unknown(12)	p.0?(1315)|p.?(12)|p.0(1)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(45)|ovary(33)|breast(31)|kidney(29)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CS041518|CS941435	CDKN2A	S		c.(304-306)gGt>gTt		cyclin-dependent kinase inhibitor 2A							34.0	35.0	34.0					9																	21970900		2203	4300	6503	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21970900C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1G>T	9.37:g.21970900C>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site	p.G102V			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	379	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.305G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	7.763	0.705723	0.15172	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3509	0.55146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21960900	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	1.477000	0.35431	2.630000	0.89119	0.655000	0.94253	.		0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	13	26	1	0	1.61879e-10	1	1.81821e-10	13	26				
ZNF224	7767	broad.mit.edu	37	19	44612185	44612185	+	Silent	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:44612185C>G	ENST00000336976.6	+	6	2126	c.1872C>G	c.(1870-1872)ctC>ctG	p.L624L	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	624					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAACACCTCTCAAATGTGAGC	0.453																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(1870-1872)ctC>ctG		zinc finger protein 224							77.0	76.0	76.0					19																	44612185		2203	4300	6503	SO:0001819	synonymous_variant	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44612185C>G	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1872C>G	19.37:g.44612185C>G						AC084219.4_ENST00000592946.1_RNA	p.L624L	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	2126	+		Prostate(69;0.0435)	624					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	c.1872C>G	CCDS33046.1																																																																																				0.453	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		12	64	0	0	0	1	0	12	64				
HELZ	9931	broad.mit.edu	37	17	65134094	65134094	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:65134094T>G	ENST00000358691.5	-	22	3072	c.2906A>C	c.(2905-2907)aAa>aCa	p.K969T	HELZ_ENST00000580168.1_Missense_Mutation_p.K970T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	969						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAATCTCTTTTTTCGAAGTTC	0.383																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2905-2907)aAa>aCa		helicase with zinc finger							200.0	203.0	202.0					17																	65134094		2067	4203	6270	SO:0001583	missense	9931							g.chr17:65134094T>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2906A>C	17.37:g.65134094T>G	ENSP00000351524:p.Lys969Thr					HELZ_ENST00000580168.1_Missense_Mutation_p.K970T	p.K969T	NM_014877.3	NP_055692.2					22	3072	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2906A>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203710	0.38905	.	.	ENSG00000198265	ENST00000358691	D	0.83075	-1.68	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.986	D	0.90105	0.4187	10	0.66056	D	0.02	-20.4579	15.1708	0.72872	0.0:0.0:0.0:1.0	.	970;969	B7ZLW2;P42694	.;HELZ_HUMAN	T	969	ENSP00000351524:K969T	ENSP00000351524:K969T	K	-	2	0	HELZ	62564556	1.000000	0.71417	0.991000	0.47740	0.731000	0.41821	7.698000	0.84413	1.974000	0.57490	0.533000	0.62120	AAA		0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		20	76	0	0	0	1	0	20	76				
IL6ST	3572	broad.mit.edu	37	5	55256304	55256304	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr5:55256304C>T	ENST00000381298.2	-	8	1211	c.899G>A	c.(898-900)cGc>cAc	p.R300H	IL6ST_ENST00000536319.1_Missense_Mutation_p.R300H|IL6ST_ENST00000381287.4_Missense_Mutation_p.R300H|IL6ST_ENST00000381294.3_Missense_Mutation_p.R300H|IL6ST_ENST00000502326.3_Missense_Mutation_p.R300H|IL6ST_ENST00000522633.2_Missense_Mutation_p.R300H|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.R300H|IL6ST_ENST00000381293.2_Missense_Mutation_p.R134H	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	300	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CTTCATACAGCGAATCCTAAA	0.403			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(898-900)cGc>cAc		interleukin 6 signal transducer (gp130, oncostatin M receptor)							202.0	180.0	187.0					5																	55256304		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55256304C>T	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.899G>A	5.37:g.55256304C>T	ENSP00000370698:p.Arg300His					IL6ST_ENST00000502326.3_Missense_Mutation_p.R300H|IL6ST_ENST00000336909.5_Missense_Mutation_p.R300H|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.R300H|IL6ST_ENST00000381287.4_Missense_Mutation_p.R300H|IL6ST_ENST00000522633.2_Missense_Mutation_p.R300H|IL6ST_ENST00000381294.3_Missense_Mutation_p.R300H|IL6ST_ENST00000381293.2_Missense_Mutation_p.R134H	p.R300H	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			8	1211	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	300			Fibronectin type-III 2.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.899G>A	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127369	0.77549	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.39	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.167150	0.56097	D	0.000038	T	0.71676	0.3368	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.79108	0.992;0.962;0.987;0.951	T	0.75419	-0.3324	10	0.87932	D	0	.	10.7366	0.46128	0.0:0.7971:0.1305:0.0723	.	134;300;300;300	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	H	300;300;300;300;300;134;300;300	ENSP00000370698:R300H;ENSP00000338799:R300H;ENSP00000370694:R300H;ENSP00000370687:R300H;ENSP00000444456:R300H;ENSP00000370693:R134H;ENSP00000435399:R300H	ENSP00000338799:R300H	R	-	2	0	IL6ST	55292061	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	2.986000	0.49370	2.517000	0.84864	0.462000	0.41574	CGC		0.403	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		13	37	0	0	0	1	0	13	37				
CSMD3	114788	broad.mit.edu	37	8	113651006	113651006	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:113651006G>C	ENST00000297405.5	-	21	3689	c.3445C>G	c.(3445-3447)Ctc>Gtc	p.L1149V	CSMD3_ENST00000455883.2_Missense_Mutation_p.L1045V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1149V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1109V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1149	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCCATAGAGACCAGCATTG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3445-3447)Ctc>Gtc		CUB and Sushi multiple domains 3							97.0	96.0	96.0					8																	113651006		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113651006G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3445C>G	8.37:g.113651006G>C	ENSP00000297405:p.Leu1149Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.L1149V|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1045V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1109V	p.L1149V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			21	3689	-			1149			CUB 6.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3445C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333870	0.60853	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.36	5.36	0.76844	CUB (5);	0.000000	0.64402	D	0.000006	T	0.47746	0.1462	L	0.42744	1.35	0.34971	D	0.753114	D;D;P	0.76494	0.999;0.999;0.691	D;D;P	0.87578	0.997;0.998;0.839	T	0.46582	-0.9181	10	0.16896	T	0.51	.	19.0774	0.93168	0.0:0.0:1.0:0.0	.	1045;1149;1109	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1109;1149;489;1045;1149	ENSP00000345799:L1109V;ENSP00000297405:L1149V;ENSP00000341558:L489V;ENSP00000412263:L1045V;ENSP00000343124:L1149V	ENSP00000297405:L1149V	L	-	1	0	CSMD3	113720182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.843000	0.86859	2.529000	0.85273	0.491000	0.48974	CTC		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	78	0	0	0	1	0	14	78				
PCDHB6	56130	broad.mit.edu	37	5	140530440	140530440	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr5:140530440G>A	ENST00000231136.1	+	1	602	c.602G>A	c.(601-603)cGc>cAc	p.R201H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R65H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R201H(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTTGGACCGCGAGGAGCAG	0.602																																						ENST00000231136.1																			1	Substitution - Missense(1)	p.R201H(1)	large_intestine(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(601-603)cGc>cAc									66.0	70.0	69.0					5																	140530440		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530440G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.602G>A	5.37:g.140530440G>A	ENSP00000231136:p.Arg201His					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R65H	p.R201H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	602	+			201			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.602G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755233	0.69648	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.60040	0.22;0.22	4.7	3.83	0.44106	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72358	0.3450	M	0.93594	3.435	0.36788	D	0.88468	P	0.45672	0.864	P	0.47102	0.537	T	0.83134	-0.0112	9	0.66056	D	0.02	.	13.0766	0.59091	0.079:0.0:0.921:0.0	.	201	Q9Y5E3	PCDB6_HUMAN	H	65;201	ENSP00000438466:R65H;ENSP00000231136:R201H	ENSP00000231136:R201H	R	+	2	0	PCDHB6	140510624	0.993000	0.37304	0.593000	0.28771	0.575000	0.36095	6.689000	0.74562	1.101000	0.41535	0.561000	0.74099	CGC		0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		20	63	0	0	0	1	0	20	63				
TMEM246	84302	broad.mit.edu	37	9	104238191	104238191	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr9:104238191C>T	ENST00000374851.1	-	4	2331	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R395Q|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R395Q|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	395						integral component of membrane (GO:0016021)											AAAGTTGTACCGGAGACTGGA	0.483																																						ENST00000374851.1																			0											c.(1183-1185)cGg>cAg		transmembrane protein 246							100.0	101.0	101.0					9																	104238191		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238191C>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1184G>A	9.37:g.104238191C>T	ENSP00000363984:p.Arg395Gln					RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R395Q|TMEM246_ENST00000374848.3_Missense_Mutation_p.R395Q	p.R395Q			Q9BRR3	CI125_HUMAN			4	2331	-			395					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.1184G>A	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425644	0.62733	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.68	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.80178	-0.1490	9	0.87932	D	0	-23.603	13.6539	0.62327	0.0:0.926:0.0:0.074	.	395	Q9BRR3	CI125_HUMAN	Q	395	.	ENSP00000363980:R395Q	R	-	2	0	C9orf125	103278012	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.317000	0.79018	1.405000	0.46838	0.655000	0.94253	CGG		0.483	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		6	73	0	0	0	1	0	6	73				
GRIN2B	2904	broad.mit.edu	37	12	13715930	13715930	+	Silent	SNP	C	C	T	rs202227485		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:13715930C>T	ENST00000609686.1	-	13	4451	c.4242G>A	c.(4240-4242)gcG>gcA	p.A1414A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1414					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGCTTTCGACGCCCCCGCCA	0.617																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(4240-4242)gcG>gcA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						33.0	36.0	35.0					12																	13715930		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13715930C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4242G>A	12.37:g.13715930C>T							p.A1414A	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4451	-			1414					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.4242G>A	CCDS8662.1																																																																																				0.617	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	22	0	0	0	1	0	7	22				
NID2	22795	broad.mit.edu	37	14	52481889	52481889	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr14:52481889C>A	ENST00000216286.5	-	15	3132	c.3133G>T	c.(3133-3135)Gac>Tac	p.D1045Y	NID2_ENST00000541773.1_Missense_Mutation_p.D944Y	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1045	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGCCCAGGTCATCGCACTGG	0.647																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3133-3135)Gac>Tac		nidogen 2 (osteonidogen)							60.0	52.0	55.0					14																	52481889		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481889C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3133G>T	14.37:g.52481889C>A	ENSP00000216286:p.Asp1045Tyr					NID2_ENST00000541773.1_Missense_Mutation_p.D944Y	p.D1045Y	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			15	3132	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1045			Thyroglobulin type-1 2.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.3133G>T	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.12|16.12	3.032484|3.032484	0.54790|0.54790	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	T;T|.	0.64085|.	-0.08;-0.08|.	5.67|5.67	3.73|3.73	0.42828|0.42828	Thyroglobulin type-1 (6);|.	0.741176|.	0.13951|.	N|.	0.351534|.	T|.	0.44414|.	0.1292|.	L|L	0.49571|0.49571	1.57|1.57	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.63880|.	0.984;0.986;0.99;0.993|.	P;P;D;D|.	0.67103|.	0.824;0.742;0.949;0.914|.	T|.	0.28681|.	-1.0036|.	10|.	0.62326|.	D|.	0.03|.	.|.	11.0918|11.0918	0.48121|0.48121	0.1279:0.5046:0.3675:0.0|0.1279:0.5046:0.3675:0.0	.|.	639;944;1047;1045|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	Y|L	1045;639;944;1047|313	ENSP00000216286:D1045Y;ENSP00000443730:D944Y|.	ENSP00000216286:D1045Y|.	D|X	-|-	1|2	0|2	NID2|NID2	51551639|51551639	0.064000|0.064000	0.20934|0.20934	0.866000|0.866000	0.34008|0.34008	0.935000|0.935000	0.57460|0.57460	0.734000|0.734000	0.26101|0.26101	1.384000|1.384000	0.46424|0.46424	-0.176000|-0.176000	0.13171|0.13171	GAC|TGA		0.647	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			4	50	1	0	0.150653	1	0.151632	4	50				
ZFPM2	23414	broad.mit.edu	37	8	106811156	106811156	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:106811156T>A	ENST00000407775.2	+	7	1194	c.944T>A	c.(943-945)aTg>aAg	p.M315K	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.M183K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.M183K|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.M46K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	315					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCTAGAAATGCACCTGAAT	0.428																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(943-945)aTg>aAg		zinc finger protein, FOG family member 2							96.0	96.0	96.0					8																	106811156		1922	4141	6063	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106811156T>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.944T>A	8.37:g.106811156T>A	ENSP00000384179:p.Met315Lys					ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.M46K|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.M183K|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.M183K|RP11-152P17.2_ENST00000521622.1_RNA	p.M315K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1194	+			315					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.944T>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566871	0.65651	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	N	0.05383	-0.06	0.80722	D	1	P	0.35242	0.492	B	0.42214	0.38	T	0.51545	-0.8692	10	0.05833	T	0.94	.	16.2965	0.82776	0.0:0.0:0.0:1.0	.	315	Q8WW38	FOG2_HUMAN	K	315;183;183;46	ENSP00000384179:M315K;ENSP00000430757:M183K;ENSP00000428720:M183K;ENSP00000367733:M46K	ENSP00000367733:M46K	M	+	2	0	ZFPM2	106880332	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.977000	0.70492	2.243000	0.73865	0.528000	0.53228	ATG		0.428	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			24	96	0	0	0	1	0	24	96				
SPI1	6688	broad.mit.edu	37	11	47377022	47377022	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:47377022C>A	ENST00000378538.3	-	5	791	c.569G>T	c.(568-570)tGg>tTg	p.W190L	SPI1_ENST00000533030.1_3'UTR|MYBPC3_ENST00000399249.2_5'Flank|MYBPC3_ENST00000256993.4_5'Flank|MYBPC3_ENST00000545968.1_5'Flank|SPI1_ENST00000227163.4_Missense_Mutation_p.W191L	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	190					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GTCCACCCACCAGATGCTGTC	0.632																																						ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(568-570)tGg>tTg		spleen focus forming virus (SFFV) proviral integration oncogene							79.0	71.0	74.0					11																	47377022		2201	4298	6499	SO:0001583	missense	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47377022C>A	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.569G>T	11.37:g.47377022C>A	ENSP00000367799:p.Trp190Leu					SPI1_ENST00000533030.1_3'UTR|SPI1_ENST00000227163.4_Missense_Mutation_p.W191L	p.W190L	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	5	791	-			190						Missense_Mutation	SNP	ENST00000378538.3	37	c.569G>T	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	c	21.7	4.183497	0.78677	.	.	ENSG00000066336	ENST00000378538;ENST00000227163	T;T	0.12465	2.68;2.68	4.23	3.31	0.37934	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.973;0.998	P;D	0.68192	0.901;0.956	T	0.19712	-1.0297	10	0.17369	T	0.5	-12.3602	12.2235	0.54447	0.0:0.9155:0.0:0.0845	.	190;191	P17947;P17947-2	SPI1_HUMAN;.	L	190;191	ENSP00000367799:W190L;ENSP00000227163:W191L	ENSP00000227163:W191L	W	-	2	0	SPI1	47333598	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.625000	0.61262	0.896000	0.36366	0.479000	0.44913	TGG		0.632	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		6	50	1	0	8.12818e-05	1	8.62924e-05	6	50				
PACS1	55690	broad.mit.edu	37	11	66001279	66001279	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:66001279C>T	ENST00000320580.4	+	16	1895	c.1862C>T	c.(1861-1863)cCg>cTg	p.P621L	PACS1_ENST00000529757.1_Missense_Mutation_p.P157L	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	621					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCTTCCATGCCGAGGCCAGTG	0.612																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1861-1863)cCg>cTg		phosphofurin acidic cluster sorting protein 1							76.0	66.0	69.0					11																	66001279		2200	4295	6495	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66001279C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1862C>T	11.37:g.66001279C>T	ENSP00000316454:p.Pro621Leu					PACS1_ENST00000529757.1_Missense_Mutation_p.P157L	p.P621L	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			16	1895	+			621					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.1862C>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936870	0.92458	.	.	ENSG00000175115	ENST00000320580;ENST00000529757;ENST00000528935	T;T;T	0.68624	-0.34;-0.34;-0.34	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85338	0.1094	10	0.62326	D	0.03	-24.8117	17.021	0.86433	0.0:1.0:0.0:0.0	.	621	Q6VY07	PACS1_HUMAN	L	621;157;2	ENSP00000316454:P621L;ENSP00000432858:P157L;ENSP00000437052:P2L	ENSP00000316454:P621L	P	+	2	0	PACS1	65757855	1.000000	0.71417	0.954000	0.39281	0.946000	0.59487	7.651000	0.83577	2.551000	0.86045	0.655000	0.94253	CCG		0.612	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		9	45	0	0	0	1	0	9	45				
GLP2R	9340	broad.mit.edu	37	17	9792828	9792828	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:9792828C>T	ENST00000262441.5	+	13	1981	c.1468C>T	c.(1468-1470)Ctt>Ttt	p.L490F	GLP2R_ENST00000574745.1_Missense_Mutation_p.L310F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	490					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)	CGCTGAGAAGCTTCGGAAGCT	0.612																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1468-1470)Ctt>Ttt		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						57.0	57.0	57.0					17																	9792828		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.chr17:9792828C>T	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.1468C>T	17.37:g.9792828C>T	ENSP00000262441:p.Leu490Phe					GLP2R_ENST00000574745.1_Missense_Mutation_p.L310F	p.L490F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			13	1981	+			490					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1468C>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485823	0.26686	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.56611	0.45	5.53	2.1	0.27182	.	0.237190	0.21983	N	0.066262	T	0.34193	0.0889	L	0.38838	1.175	0.09310	N	1	P	0.38420	0.63	B	0.29942	0.109	T	0.13335	-1.0513	10	0.35671	T	0.21	.	8.4926	0.33108	0.303:0.5495:0.1475:0.0	.	490	O95838	GLP2R_HUMAN	F	490	ENSP00000262441:L490F	ENSP00000262441:L490F	L	+	1	0	GLP2R	9733553	0.001000	0.12720	0.002000	0.10522	0.230000	0.25150	1.102000	0.31050	0.735000	0.32537	0.655000	0.94253	CTT		0.612	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			41	47	0	0	0	1	0	41	47				
RYR2	6262	broad.mit.edu	37	1	237817654	237817654	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:237817654A>C	ENST00000366574.2	+	52	8222	c.7905A>C	c.(7903-7905)gaA>gaC	p.E2635D	RYR2_ENST00000360064.6_Missense_Mutation_p.E2633D|RYR2_ENST00000542537.1_Missense_Mutation_p.E2619D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2635	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGCCTCAGAAGAAGAACTTC	0.383																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7903-7905)gaA>gaC		ryanodine receptor 2 (cardiac)							96.0	96.0	96.0					1																	237817654		1851	4095	5946	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237817654A>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7905A>C	1.37:g.237817654A>C	ENSP00000355533:p.Glu2635Asp					RYR2_ENST00000360064.6_Missense_Mutation_p.E2633D|RYR2_ENST00000542537.1_Missense_Mutation_p.E2619D	p.E2635D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		52	8222	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2635			4 X approximate repeats.|Modulator (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7905A>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.820680	0.32145	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93488	-3.23;-3.23;-3.23	5.86	1.84	0.25277	.	0.078210	0.49305	D	0.000146	D	0.85588	0.5731	L	0.31752	0.955	0.80722	D	1	B	0.18013	0.025	B	0.18561	0.022	T	0.74765	-0.3554	10	0.22109	T	0.4	-17.7775	6.7249	0.23350	0.7004:0.1268:0.1728:0.0	.	2635	Q92736	RYR2_HUMAN	D	2635;2633;2619	ENSP00000355533:E2635D;ENSP00000353174:E2633D;ENSP00000443798:E2619D	ENSP00000353174:E2633D	E	+	3	2	RYR2	235884277	0.996000	0.38824	0.999000	0.59377	0.994000	0.84299	0.583000	0.23849	0.538000	0.28769	0.528000	0.53228	GAA		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	27	0	0	0	1	0	6	27				
SLFN12	55106	broad.mit.edu	37	17	33749590	33749590	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:33749590C>G	ENST00000394562.1	-	4	981	c.458G>C	c.(457-459)aGa>aCa	p.R153T	SLFN12_ENST00000452764.3_Missense_Mutation_p.R153T|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Missense_Mutation_p.R153T			Q8IYM2	SLN12_HUMAN	schlafen family member 12	153							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAATCTCCCTCTAGTCTTTTT	0.408																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(457-459)aGa>aCa		schlafen family member 12							85.0	87.0	86.0					17																	33749590		2202	4298	6500	SO:0001583	missense	55106						ATP binding	g.chr17:33749590C>G	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.458G>C	17.37:g.33749590C>G	ENSP00000378063:p.Arg153Thr					SLFN12_ENST00000304905.5_Missense_Mutation_p.R153T|SLFN12_ENST00000452764.3_Missense_Mutation_p.R153T	p.R153T			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	981	-		Ovarian(249;0.17)	153					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.458G>C	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	c	5.807	0.333215	0.11013	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03889	3.77;3.77;3.77	3.38	-1.45	0.08828	.	.	.	.	.	T	0.03011	0.0089	L	0.39020	1.185	0.09310	N	1	P	0.38978	0.652	B	0.33295	0.161	T	0.43572	-0.9383	9	0.21540	T	0.41	.	3.5096	0.07703	0.0:0.4269:0.1993:0.3739	.	153	Q8IYM2	SLN12_HUMAN	T	153	ENSP00000378063:R153T;ENSP00000302077:R153T;ENSP00000394903:R153T	ENSP00000302077:R153T	R	-	2	0	SLFN12	30773703	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-5.182000	0.00143	-0.083000	0.12618	0.436000	0.28706	AGA		0.408	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		9	60	0	0	0	1	0	9	60				
ZNF2	7549	broad.mit.edu	37	2	95846949	95846949	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr2:95846949G>C	ENST00000340539.5	+	5	838	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	ZNF2_ENST00000295210.6_Missense_Mutation_p.E88Q|ZNF2_ENST00000425369.1_Missense_Mutation_p.E46Q|ZNF2_ENST00000453539.2_Missense_Mutation_p.E139Q|ZNF2_ENST00000398107.2_Missense_Mutation_p.E84Q	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TCCTAAATTTGAAGTTCATAC	0.493																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(250-252)Gaa>Caa		zinc finger protein 2							96.0	96.0	96.0					2																	95846949		1918	4124	6042	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95846949G>C	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.376G>C	2.37:g.95846949G>C	ENSP00000345392:p.Glu126Gln					ZNF2_ENST00000340539.5_Missense_Mutation_p.E126Q|ZNF2_ENST00000295210.6_Missense_Mutation_p.E88Q|ZNF2_ENST00000453539.2_Missense_Mutation_p.E139Q|ZNF2_ENST00000425369.1_Missense_Mutation_p.E46Q	p.E84Q	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	4	772	+		Ovarian(717;0.00768)	126			KRAB.		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.250G>C	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	6.040	0.375780	0.11409	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.06768	3.26;3.44;3.32;3.42;3.42	5.52	3.71	0.42584	.	0.403584	0.21455	N	0.074271	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	1	B;P;B	0.39665	0.013;0.682;0.013	B;B;B	0.32864	0.003;0.154;0.003	T	0.38045	-0.9679	10	0.40728	T	0.16	-8.5166	5.6953	0.17853	0.1672:0.1618:0.671:0.0	.	88;84;126	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	Q	84;126;46;88;139	ENSP00000381178:E84Q;ENSP00000345392:E126Q;ENSP00000406017:E46Q;ENSP00000295210:E88Q;ENSP00000411051:E139Q	ENSP00000295210:E88Q	E	+	1	0	ZNF2	95210676	0.000000	0.05858	0.017000	0.16124	0.255000	0.26057	-0.121000	0.10643	0.868000	0.35678	0.650000	0.86243	GAA		0.493	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		5	86	0	0	0	1	0	5	86				
AHNAK	79026	broad.mit.edu	37	11	62291818	62291818	+	Silent	SNP	A	A	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:62291818A>G	ENST00000378024.4	-	5	10345	c.10071T>C	c.(10069-10071)ttT>ttC	p.F3357F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3357					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCGAAAAATTAAATTTGGGAA	0.403																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10069-10071)ttT>ttC		AHNAK nucleoprotein							47.0	52.0	50.0					11																	62291818		2202	4298	6500	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62291818A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10071T>C	11.37:g.62291818A>G						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F3357F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10345	-		Melanoma(852;0.155)	3357					A1A586	Silent	SNP	ENST00000378024.4	37	c.10071T>C	CCDS31584.1																																																																																				0.403	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	95	0	0	0	1	0	6	95				
MCMBP	79892	broad.mit.edu	37	10	121586558	121586558	+	IGR	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr10:121586558C>G	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Missense_Mutation_p.L889V|INPP5F_ENST00000369080.3_Missense_Mutation_p.L279V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGATTACGTTCTTCCTAGTTG	0.453																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2665-2667)Ctt>Gtt		inositol polyphosphate-5-phosphatase F							164.0	134.0	144.0					10																	121586558		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586558C>G	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586558C>G						INPP5F_ENST00000369080.3_Missense_Mutation_p.L279V	p.L889V	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	2831	+		Lung NSC(174;0.109)|all_lung(145;0.142)	889					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.2665C>G	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400043	0.83120	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.61040	0.57;0.14	5.92	5.92	0.95590	.	0.067046	0.64402	D	0.000008	T	0.69459	0.3113	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.991	T	0.69829	-0.5039	10	0.62326	D	0.03	-21.8139	20.3206	0.98668	0.0:1.0:0.0:0.0	.	279;889	Q5W135;Q9Y2H2	.;SAC2_HUMAN	V	889;279	ENSP00000354519:L889V;ENSP00000358076:L279V	ENSP00000354519:L889V	L	+	1	0	INPP5F	121576548	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	5.631000	0.67812	2.809000	0.96659	0.655000	0.94253	CTT		0.453	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		18	73	0	0	0	1	0	18	73				
TMCC2	9911	broad.mit.edu	37	1	205210900	205210900	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:205210900C>T	ENST00000358024.3	+	2	864	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	TMCC2_ENST00000545499.1_Missense_Mutation_p.P81S|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	159						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCGCTCCCGGCCCTCCATCAA	0.716																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(475-477)Ccc>Tcc		transmembrane and coiled-coil domain family 2							14.0	16.0	15.0					1																	205210900		2197	4295	6492	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205210900C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.475C>T	1.37:g.205210900C>T	ENSP00000350718:p.Pro159Ser					TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.P81S	p.P159S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	864	+	Breast(84;0.0871)		159					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.475C>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178871	0.78564	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.69306	-0.39;-0.23	4.94	4.94	0.65067	.	0.000000	0.56097	D	0.000022	T	0.60508	0.2274	L	0.36672	1.1	0.49213	D	0.999769	P	0.47034	0.889	B	0.41036	0.346	T	0.68176	-0.5478	10	0.87932	D	0	.	17.7578	0.88455	0.0:1.0:0.0:0.0	.	159	O75069	TMCC2_HUMAN	S	159;81	ENSP00000350718:P159S;ENSP00000437943:P81S	ENSP00000350718:P159S	P	+	1	0	TMCC2	203477523	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.431000	0.73395	2.271000	0.75665	0.462000	0.41574	CCC		0.716	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		7	18	0	0	0	1	0	7	18				
TTN	7273	broad.mit.edu	37	2	179428531	179428531	+	Missense_Mutation	SNP	C	C	T	rs551496477		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr2:179428531C>T	ENST00000591111.1	-	276	77629	c.77405G>A	c.(77404-77406)cGt>cAt	p.R25802H	TTN_ENST00000460472.2_Missense_Mutation_p.R18378H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18570H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27443H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18503H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24875H|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25802	Fibronectin type-III 87. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AGCCATGACACGGAAAATGTA	0.473																																						ENST00000589042.1																			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.(82327-82329)cGt>cAt		titin							100.0	93.0	95.0					2																	179428531		1870	4126	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428531C>T	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.77405G>A	2.37:g.179428531C>T	ENSP00000465570:p.Arg25802His					TTN_ENST00000460472.2_Missense_Mutation_p.R18378H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18570H|TTN_ENST00000591111.1_Missense_Mutation_p.R25802H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24875H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18503H	p.R27443H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	82552	-			25802					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.82328G>A		.	.	.	.	.	.	.	.	.	.	C	14.23	2.473276	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.97	5.09	0.68999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86477	0.5942	H	0.99425	4.56	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	D	0.92990	0.6414	9	0.87932	D	0	.	17.1998	0.86902	0.0:0.8739:0.1261:0.0	.	18378;18503;18570;25802	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24875;18378;18570;18503;18376	ENSP00000343764:R24875H;ENSP00000434586:R18378H;ENSP00000340554:R18570H;ENSP00000352154:R18503H	ENSP00000340554:R18570H	R	-	2	0	TTN	179136777	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	1.513000	0.48852	0.655000	0.94253	CGT		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	86	0	0	0	1	0	18	86				
USP6	9098	broad.mit.edu	37	17	5072206	5072206	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:5072206C>A	ENST00000574788.1	+	35	5603	c.3373C>A	c.(3373-3375)Ccc>Acc	p.P1125T	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.P808T|USP6_ENST00000250066.6_Missense_Mutation_p.P1125T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1125	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACCACTCACACCCCAGGGGGA	0.502			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(3373-3375)Ccc>Acc		ubiquitin specific peptidase 6 (Tre-2 oncogene)							96.0	105.0	102.0					17																	5072206		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5072206C>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3373C>A	17.37:g.5072206C>A	ENSP00000460380:p.Pro1125Thr					USP6_ENST00000304328.5_Missense_Mutation_p.P808T|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.P1125T	p.P1125T			P35125	UBP6_HUMAN			35	5603	+			1125					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.3373C>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	9.596	1.127363	0.20959	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.12879	3.03;2.64	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.564688	0.20059	N	0.100129	T	0.10852	0.0265	N	0.14661	0.345	0.31733	N	0.63676	B;P	0.48911	0.228;0.917	B;P	0.51016	0.121;0.656	T	0.07290	-1.0780	10	0.13470	T	0.59	.	10.4068	0.44266	0.0:1.0:0.0:0.0	.	808;1125	P35125-2;P35125	.;UBP6_HUMAN	T	1125;808	ENSP00000250066:P1125T;ENSP00000305473:P808T	ENSP00000250066:P1125T	P	+	1	0	USP6	5012930	0.894000	0.30519	1.000000	0.80357	0.156000	0.22039	2.728000	0.47319	1.313000	0.45069	0.184000	0.17185	CCC		0.502	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		66	69	1	0	2.26907e-38	1	2.68477e-38	66	69				
FANCM	57697	broad.mit.edu	37	14	45658278	45658278	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr14:45658278G>C	ENST00000267430.5	+	20	5138	c.5053G>C	c.(5053-5055)Gaa>Caa	p.E1685Q	FANCM_ENST00000542564.2_Missense_Mutation_p.E1659Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1685					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGATAAAAGAGAATCTAATAT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5053-5055)Gaa>Caa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							78.0	81.0	80.0					14																	45658278		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658278G>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5053G>C	14.37:g.45658278G>C	ENSP00000267430:p.Glu1685Gln					FANCM_ENST00000542564.2_Missense_Mutation_p.E1659Q	p.E1685Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			20	5138	+			1685					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5053G>C	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.14|11.14	1.550152|1.550152	0.27652|0.27652	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|T	0.18960|0.20738	2.79;2.79;2.18|2.05	5.45|5.45	0.462|0.462	0.16695|0.16695	.|.	4.844560|.	0.00166|.	N|.	0.000007|.	T|T	0.24509|0.24509	0.0594|0.0594	M|M	0.63843|0.63843	1.955|1.955	0.09310|0.09310	N|N	1|1	B;B|.	0.24258|.	0.1;0.1|.	B;B|.	0.26864|.	0.074;0.074|.	T|T	0.21655|0.21655	-1.0239|-1.0239	10|6	0.56958|.	D|.	0.05|.	.|.	5.2802|5.2802	0.15670|0.15670	0.3922:0.1372:0.4705:0.0|0.3922:0.1372:0.4705:0.0	.|.	1659;1685|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	Q|T	1685;1659;1201|617	ENSP00000267430:E1685Q;ENSP00000442493:E1659Q;ENSP00000452033:E1201Q|ENSP00000450632:R617T	ENSP00000267430:E1685Q|.	E|R	+|+	1|2	0|0	FANCM|FANCM	44728028|44728028	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	0.280000|0.280000	0.18790|0.18790	-0.111000|-0.111000	0.12001|0.12001	-0.143000|-0.143000	0.13931|0.13931	GAA|AGA		0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		4	72	0	0	0	1	0	4	72				
LRCH3	84859	broad.mit.edu	37	3	197556504	197556504	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr3:197556504C>G	ENST00000425562.2	+	6	847	c.847C>G	c.(847-849)Ctg>Gtg	p.L283V	LRCH3_ENST00000438796.2_Missense_Mutation_p.L283V|AC055764.1_ENST00000454526.1_RNA|LRCH3_ENST00000334859.4_Missense_Mutation_p.L283V|LRCH3_ENST00000414675.2_Missense_Mutation_p.L283V|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Missense_Mutation_p.L157V			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	283						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TGCTCCAGATCTGCCGGATTA	0.348																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(847-849)Ctg>Gtg		leucine-rich repeats and calponin homology (CH) domain containing 3							166.0	168.0	167.0					3																	197556504		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197556504C>G	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.847C>G	3.37:g.197556504C>G	ENSP00000393579:p.Leu283Val					LRCH3_ENST00000414675.2_Missense_Mutation_p.L283V|LRCH3_ENST00000334859.4_Missense_Mutation_p.L283V|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Missense_Mutation_p.L283V|LRCH3_ENST00000441090.2_Missense_Mutation_p.L157V	p.L283V			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	6	891	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		283					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.847C>G		.	.	.	.	.	.	.	.	.	.	C	18.66	3.671710	0.67928	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.56444	1.8;0.46;1.88;2.06;1.81	5.44	5.44	0.79542	.	0.083327	0.49305	D	0.000147	T	0.56426	0.1984	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.89917	0.999;0.93;0.999;1.0	D;P;D;D	0.91635	0.971;0.527;0.987;0.999	T	0.53906	-0.8372	10	0.33141	T	0.24	-8.3706	8.1529	0.31152	0.1583:0.757:0.0:0.0847	.	157;283;283;283	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	V	283;157;283;283;283	ENSP00000399751:L283V;ENSP00000394609:L157V;ENSP00000394965:L283V;ENSP00000334375:L283V;ENSP00000393579:L283V	ENSP00000334375:L283V	L	+	1	2	LRCH3	199040901	0.892000	0.30473	1.000000	0.80357	0.994000	0.84299	1.317000	0.33631	2.561000	0.86390	0.650000	0.86243	CTG		0.348	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		4	75	0	0	0	1	0	4	75				
SNHG14	104472715	broad.mit.edu	37	15	25436596	25436596	+	RNA	SNP	G	G	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr15:25436596G>C	ENST00000424208.1	+	0	1092				SNHG14_ENST00000363358.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGTCCTGAAGAGAGGTGATG	0.527																																						ENST00000424208.1																			0																				469.0	474.0	472.0					15																	25436596		876	1989	2865			104472715							g.chr15:25436596G>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436596G>C						SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA		NR_003305.1						0	1092	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.527	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			14	437	0	0	0	1	0	14	437				
NFATC2IP	84901	broad.mit.edu	37	16	28967572	28967572	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr16:28967572G>A	ENST00000320805.4	+	5	835	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron|RP11-264B17.2_ENST00000569974.1_RNA|MIR4517_ENST00000578855.1_RNA|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000568148.1_5'Flank	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	254					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GGTCTTGGTGGAAGGGCCCAC	0.607																																						ENST00000320805.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						c.(760-762)Gaa>Aaa		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							63.0	56.0	59.0					16																	28967572		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28967572G>A	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.760G>A	16.37:g.28967572G>A	ENSP00000324792:p.Glu254Lys					NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	p.E254K	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN			5	835	+			254					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.760G>A	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949359	0.53186	.	.	ENSG00000176953	ENST00000320805	T	0.20332	2.08	5.34	4.39	0.52855	.	0.251787	0.33419	N	0.004928	T	0.35566	0.0936	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.05131	-1.0904	10	0.51188	T	0.08	-23.9373	10.0979	0.42486	0.0923:0.0:0.9077:0.0	.	254	Q8NCF5	NF2IP_HUMAN	K	254	ENSP00000324792:E254K	ENSP00000324792:E254K	E	+	1	0	NFATC2IP	28875073	1.000000	0.71417	0.958000	0.39756	0.038000	0.13279	4.457000	0.60088	1.243000	0.43853	0.655000	0.94253	GAA		0.607	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		7	37	0	0	0	1	0	7	37				
HEATR1	55127	broad.mit.edu	37	1	236717934	236717934	+	Silent	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:236717934C>T	ENST00000366582.3	-	42	6156	c.6042G>A	c.(6040-6042)gaG>gaA	p.E2014E	HEATR1_ENST00000366581.2_Silent_p.E1933E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2014					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTCTGCTCTCTCTTTACTTA	0.408																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(6040-6042)gaG>gaA		HEAT repeat containing 1							90.0	91.0	90.0					1																	236717934		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236717934C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6042G>A	1.37:g.236717934C>T						HEATR1_ENST00000366581.2_Silent_p.E1933E	p.E2014E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		42	6156	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2014					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.6042G>A	CCDS31066.1																																																																																				0.408	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		15	71	0	0	0	1	0	15	71				
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTGAGGCTCCCCTTTCTTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(880-882)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							109.0	95.0	100.0					17																	7577058		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577058C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*	p.E294*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	294		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.880G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	37	1	0	1.42536e-11	1	1.61263e-11	23	37				
GIT1	28964	broad.mit.edu	37	17	27903261	27903261	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:27903261G>A	ENST00000225394.3	-	14	1836	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	GIT1_ENST00000581348.1_Missense_Mutation_p.R539W|GIT1_ENST00000579937.1_Missense_Mutation_p.R530W|GIT1_ENST00000394869.3_Missense_Mutation_p.R539W|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	530					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCTGCAGCCGCGTAGTGAGC	0.642																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1588-1590)Cgg>Tgg		G protein-coupled receptor kinase interacting ArfGAP 1							70.0	77.0	75.0					17																	27903261		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903261G>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1588C>T	17.37:g.27903261G>A	ENSP00000225394:p.Arg530Trp					GIT1_ENST00000581348.1_Missense_Mutation_p.R539W|GIT1_ENST00000394869.3_Missense_Mutation_p.R539W|GIT1_ENST00000579937.1_Missense_Mutation_p.R530W|RP11-68I3.2_ENST00000581474.1_RNA	p.R530W	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1836	-			530					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.1588C>T	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267114	0.59540	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.73363	-0.68;-0.74	4.54	4.54	0.55810	.	0.121352	0.56097	D	0.000037	T	0.81833	0.4906	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	P;D;P;D	0.66497	0.881;0.944;0.881;0.918	D	0.83463	0.0055	10	0.87932	D	0	.	12.9047	0.58145	0.0:0.0:0.8376:0.1624	.	543;539;539;530	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	W	530;539	ENSP00000225394:R530W;ENSP00000378338:R539W	ENSP00000225394:R530W	R	-	1	2	GIT1	24927387	0.544000	0.26441	0.896000	0.35187	0.412000	0.31113	1.115000	0.31209	2.524000	0.85096	0.297000	0.19635	CGG		0.642	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		37	98	0	0	0	1	0	37	98				
UAP1	6675	broad.mit.edu	37	1	162546694	162546694	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:162546694T>G	ENST00000367925.1	+	2	440	c.408T>G	c.(406-408)ttT>ttG	p.F136L	UAP1_ENST00000367924.1_Missense_Mutation_p.F136L|UAP1_ENST00000367926.4_Missense_Mutation_p.F136L|UAP1_ENST00000271469.3_Missense_Mutation_p.F136L			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	136					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGACACTTTTTCAGATTCAAG	0.438																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(406-408)ttT>ttG		UDP-N-acteylglucosamine pyrophosphorylase 1							124.0	113.0	117.0					1																	162546694		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162546694T>G	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.408T>G	1.37:g.162546694T>G	ENSP00000356902:p.Phe136Leu					UAP1_ENST00000367926.4_Missense_Mutation_p.F136L|UAP1_ENST00000367924.1_Missense_Mutation_p.F136L|UAP1_ENST00000367925.1_Missense_Mutation_p.F136L	p.F136L			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	710	+	all_hematologic(112;0.115)		136					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.408T>G		.	.	.	.	.	.	.	.	.	.	T	21.5	4.164515	0.78339	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	5.13	-3.43	0.04810	.	0.047266	0.85682	D	0.000000	T	0.08223	0.0205	M	0.71920	2.185	0.51012	D	0.999908	P	0.40515	0.719	B	0.36186	0.219	T	0.15378	-1.0439	9	0.87932	D	0	-22.2538	13.2942	0.60288	0.0:0.708:0.0:0.292	.	136	Q16222-2	.	L	136	ENSP00000395648:F136L;ENSP00000356903:F136L;ENSP00000271469:F136L;ENSP00000356902:F136L;ENSP00000356901:F136L	ENSP00000271469:F136L	F	+	3	2	UAP1	160813318	0.902000	0.30710	0.990000	0.47175	0.958000	0.62258	-0.052000	0.11865	-0.472000	0.06881	-0.376000	0.06991	TTT		0.438	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		8	88	0	0	0	1	0	8	88				
ECI2	10455	broad.mit.edu	37	6	4133832	4133832	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:4133832T>C	ENST00000380118.3	-	2	200	c.164A>G	c.(163-165)aAg>aGg	p.K55R	ECI2_ENST00000361538.2_Missense_Mutation_p.K25R|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.K25R|RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000465828.1_Missense_Mutation_p.K25R|RP3-400B16.1_ENST00000427049.2_lincRNA			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	55	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TCCTGGATCCTTTTTCAAGAG	0.398																																						ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(73-75)aAg>aGg		enoyl-CoA delta isomerase 2							217.0	201.0	206.0					6																	4133832		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4133832T>C	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.164A>G	6.37:g.4133832T>C	ENSP00000369461:p.Lys55Arg					ECI2_ENST00000380118.3_Missense_Mutation_p.K55R|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Missense_Mutation_p.K25R|ECI2_ENST00000380125.2_Missense_Mutation_p.K25R	p.K25R			O75521	ECI2_HUMAN			2	359	-			55					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.74A>G	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191753	0.78902	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.98	5.98	0.97165	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	21.516500	0.00166	N	0.000000	T	0.31796	0.0808	M	0.78223	2.4	0.80722	D	1	B	0.20988	0.05	B	0.35899	0.213	T	0.34850	-0.9812	10	0.54805	T	0.06	.	14.4143	0.67139	0.0:0.0:0.0:1.0	.	55	O75521	ECI2_HUMAN	R	55;25;25;25;102	ENSP00000369461:K55R;ENSP00000369468:K25R;ENSP00000354737:K25R;ENSP00000420309:K25R;ENSP00000417459:K102R	ENSP00000354737:K25R	K	-	2	0	ECI2	4078831	0.659000	0.27411	0.999000	0.59377	0.997000	0.91878	3.003000	0.49505	2.289000	0.77006	0.533000	0.62120	AAG		0.398	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		4	126	0	0	0	1	0	4	126				
SLC4A5	57835	broad.mit.edu	37	2	74454158	74454158	+	Missense_Mutation	SNP	G	G	C	rs146665416	byFrequency	TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr2:74454158G>C	ENST00000377634.4	-	28	3463	c.3064C>G	c.(3064-3066)Ctg>Gtg	p.L1022V	SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P946R|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L904V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L904V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L1022V|SLC4A5_ENST00000394019.2_Missense_Mutation_p.L1006V|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATCTGCACCAGGGTGAAGAGG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19433	0.0		0.0	False		,,,				2504	0.0					ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3016-3018)Ctg>Gtg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5		G	VAL/LEU,VAL/LEU	4,4402	8.1+/-20.4	0,4,2199	65.0	65.0	65.0		3064,3016	4.4	1.0	2	dbSNP_134	65	0,8600		0,0,4300	yes	missense,missense	SLC4A5	NM_021196.3,NM_133478.2	32,32	0,4,6499	CC,CG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	1022/1138,1006/1122	74454158	4,13002	2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74454158G>C	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3064C>G	2.37:g.74454158G>C	ENSP00000366861:p.Leu1022Val					SLC4A5_ENST00000377634.4_Missense_Mutation_p.L1022V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L904V|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P946R|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L904V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L1022V|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	p.L1006V	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			27	3413	-			1022						Missense_Mutation	SNP	ENST00000377634.4	37	c.3016C>G	CCDS1936.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	14.09|14.09	2.432893|2.432893	0.43224|0.43224	9.08E-4|9.08E-4	0.0|0.0	ENSG00000188687|ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377634|ENST00000423644;ENST00000425249	T;T;T;T;T|T;T	0.78816|0.71461	-1.21;-1.14;-1.14;-1.21;-1.21|-0.57;-0.29	5.24|5.24	4.36|4.36	0.52297|0.52297	Bicarbonate transporter, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63768|0.63768	0.2539|0.2539	L|L	0.48642|0.48642	1.525|1.525	0.27685|0.27685	N|N	0.946326|0.946326	P;D;P|B	0.76494|0.29805	0.938;0.999;0.61|0.257	P;D;B|B	0.91635|0.32289	0.757;0.999;0.23|0.143	T|T	0.61382|0.61382	-0.7074|-0.7074	10|9	0.10377|0.87932	T|D	0.69|0	.|.	7.9829|7.9829	0.30194|0.30194	0.1787:0.0:0.8213:0.0|0.1787:0.0:0.8213:0.0	.|.	904;1022;1006|908	Q9BY07-7;Q9BY07;Q9BY07-3|E7EQT3	.;S4A5_HUMAN;.|.	V|R	1006;1022;904;904;1022;1022|946;908	ENSP00000377587:L1006V;ENSP00000352461:L904V;ENSP00000351513:L904V;ENSP00000350475:L1022V;ENSP00000366861:L1022V|ENSP00000395804:P946R;ENSP00000405678:P908R	ENSP00000350475:L1022V|ENSP00000395804:P946R	L|P	-|-	1|2	2|0	SLC4A5|SLC4A5	74307666|74307666	0.195000|0.195000	0.23338|0.23338	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.603000|0.603000	0.24149|0.24149	1.442000|1.442000	0.47568|0.47568	0.637000|0.637000	0.83480|0.83480	CTG|CCT		0.632	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			12	69	0	0	0	1	0	12	69				
GRAP2	9402	broad.mit.edu	37	22	40365485	40365485	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr22:40365485C>T	ENST00000344138.4	+	7	1024	c.761C>T	c.(760-762)gCg>gTg	p.A254V	GRAP2_ENST00000540310.1_Missense_Mutation_p.A188V|GRAP2_ENST00000544756.1_Missense_Mutation_p.A182V|GRAP2_ENST00000543252.1_Missense_Mutation_p.A214V|GRAP2_ENST00000407075.3_Missense_Mutation_p.A254V|GRAP2_ENST00000399090.2_Missense_Mutation_p.A141V	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	254					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAAATGAATGCGGCCCTCATG	0.572																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(760-762)gCg>gTg		GRB2-related adaptor protein 2							122.0	101.0	108.0					22																	40365485		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40365485C>T	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.761C>T	22.37:g.40365485C>T	ENSP00000339186:p.Ala254Val					GRAP2_ENST00000399090.2_Missense_Mutation_p.A141V|GRAP2_ENST00000543252.1_Missense_Mutation_p.A214V|GRAP2_ENST00000407075.3_Missense_Mutation_p.A254V|GRAP2_ENST00000540310.1_Missense_Mutation_p.A188V|GRAP2_ENST00000544756.1_Missense_Mutation_p.A182V	p.A254V	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			7	1024	+			254					B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.761C>T	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758344	0.31137	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.74209	-0.33;-0.82;1.52;0.94;0.66;-0.33	5.69	5.69	0.88448	.	0.603639	0.17228	N	0.182044	T	0.61912	0.2385	L	0.29908	0.895	0.09310	N	0.999996	P;B;P;P;B	0.50710	0.938;0.384;0.931;0.918;0.384	B;B;B;B;B	0.37267	0.146;0.057;0.245;0.204;0.057	T	0.57300	-0.7835	10	0.19590	T	0.45	-9.9602	17.985	0.89153	0.0:1.0:0.0:0.0	.	141;254;188;228;254	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	V	254;214;228;188;182;141;254	ENSP00000339186:A254V;ENSP00000446350:A214V;ENSP00000444734:A188V;ENSP00000442195:A182V;ENSP00000382040:A141V;ENSP00000385607:A254V	ENSP00000339186:A254V	A	+	2	0	GRAP2	38695431	0.150000	0.22732	0.023000	0.16930	0.037000	0.13140	4.664000	0.61540	2.676000	0.91093	0.655000	0.94253	GCG		0.572	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		4	62	0	0	0	1	0	4	62				
LRP1B	53353	broad.mit.edu	37	2	142004875	142004875	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr2:142004875T>C	ENST00000389484.3	-	5	1483	c.512A>G	c.(511-513)aAc>aGc	p.N171S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	171	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCATGTGTGTTTCTGCAGGT	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(511-513)aAc>aGc		low density lipoprotein receptor-related protein 1B							176.0	157.0	164.0					2																	142004875		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142004875T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.512A>G	2.37:g.142004875T>C	ENSP00000374135:p.Asn171Ser	TSP Lung(27;0.18)					p.N171S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	5	1483	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	171			EGF-like 2; calcium-binding (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.512A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796004	0.50208	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.84370	-1.84	5.53	5.53	0.82687	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.93106	3.38	0.54753	D	0.999982	D	0.76494	0.999	D	0.83275	0.996	D	0.94744	0.7921	10	0.51188	T	0.08	.	15.9682	0.79991	0.0:0.0:0.0:1.0	.	171	Q9NZR2	LRP1B_HUMAN	S	171;109	ENSP00000374135:N171S	ENSP00000374135:N171S	N	-	2	0	LRP1B	141721345	1.000000	0.71417	0.054000	0.19295	0.002000	0.02628	7.897000	0.87356	2.224000	0.72417	0.528000	0.53228	AAC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	76	0	0	0	1	0	20	76				
DST	667	broad.mit.edu	37	6	56716356	56716356	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:56716356T>C	ENST00000370754.5	-	4	463	c.464A>G	c.(463-465)gAt>gGt	p.D155G	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCGGAAAAATCCGCAGAGGA	0.473											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(463-465)gAt>gGt		dystonin							51.0	49.0	50.0					6																	56716356		1568	3582	5150	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56716356T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.464A>G	6.37:g.56716356T>C	ENSP00000359790:p.Asp155Gly		OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1017	RP11-472M19.2_ENST00000426453.1_RNA	p.D155G			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		4	463	-	Lung NSC(77;0.103)		0			Actin-binding.|CH 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370754.5	37	c.464A>G		.	.	.	.	.	.	.	.	.	.	T	18.20	3.571641	0.65765	.	.	ENSG00000151914	ENST00000370754;ENST00000520645;ENST00000449297	D;D;D	0.97505	-4.41;-4.41;-4.41	5.87	5.87	0.94306	.	.	.	.	.	D	0.97139	0.9065	.	.	.	0.21697	N	0.999581	D;D	0.89917	0.993;1.0	D;D	0.83275	0.984;0.996	D	0.96476	0.9352	7	0.12430	T	0.62	.	16.27	0.82612	0.0:0.0:0.0:1.0	.	6;155	B4DGY0;E9PEB9	.;.	G	155;17;155	ENSP00000359790:D155G;ENSP00000431030:D17G;ENSP00000393082:D155G	ENSP00000359790:D155G	D	-	2	0	DST	56824315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.559000	0.82265	2.248000	0.74166	0.533000	0.62120	GAT		0.473	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723		8	23	0	0	0	1	0	8	23				
AGMO	392636	broad.mit.edu	37	7	15599873	15599873	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr7:15599873C>G	ENST00000342526.3	-	2	319	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	50					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CAAGCAGCATCAAAGAAATGA	0.403																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(148-150)ttG>ttC		alkylglycerol monooxygenase							78.0	75.0	76.0					7																	15599873		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599873C>G		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.150G>C	7.37:g.15599873C>G	ENSP00000341662:p.Leu50Phe						p.L50F	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			2	319	-			50					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.150G>C	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557993	0.27827	.	.	ENSG00000187546	ENST00000342526	T	0.35973	1.28	5.93	3.14	0.36123	.	0.137855	0.49916	D	0.000124	T	0.27798	0.0684	L	0.52364	1.645	0.44694	D	0.997688	B	0.22211	0.066	B	0.23419	0.046	T	0.06625	-1.0816	10	0.28530	T	0.3	-26.5704	4.903	0.13784	0.13:0.6233:0.1131:0.1336	.	50	Q6ZNB7	ALKMO_HUMAN	F	50	ENSP00000341662:L50F	ENSP00000341662:L50F	L	-	3	2	AGMO	15566398	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.055000	0.30467	0.401000	0.25424	0.655000	0.94253	TTG		0.403	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		14	66	0	0	0	1	0	14	66				
LSM14B	149986	broad.mit.edu	37	20	60705703	60705703	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr20:60705703G>A	ENST00000279068.6	+	6	951	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	LSM14B_ENST00000253001.4_Missense_Mutation_p.R264Q	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	264	DFDF. {ECO:0000255|PROSITE- ProRule:PRU00845}.				multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CAGTTCAACCGAGAGGAGCTT	0.398																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(790-792)cGa>cAa		LSM14B, SCD6 homolog B (S. cerevisiae)							80.0	78.0	79.0					20																	60705703		1837	4087	5924	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60705703G>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.791G>A	20.37:g.60705703G>A	ENSP00000279068:p.Arg264Gln					LSM14B_ENST00000279068.6_Missense_Mutation_p.R264Q	p.R264Q			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		6	997	+	Breast(26;3.97e-09)		264			DFDF.		Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.791G>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014878	0.93404	.	.	ENSG00000149657	ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000370906;ENST00000361670	T;T;T;T	0.47528	0.9;0.87;0.93;0.84	5.59	5.59	0.84812	DFDF motif (1);	0.050257	0.85682	D	0.000000	T	0.64983	0.2648	L	0.46157	1.445	0.38174	D	0.939401	D;D;D;D;P	0.89917	0.999;0.999;0.999;1.0;0.948	D;D;D;D;B	0.83275	0.994;0.994;0.994;0.996;0.376	T	0.68420	-0.5413	10	0.72032	D	0.01	.	19.2103	0.93751	0.0:0.0:1.0:0.0	.	184;220;264;290;264	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	Q	264;264;220;290;220;184	ENSP00000279068:R264Q;ENSP00000253001:R264Q;ENSP00000383172:R290Q;ENSP00000355209:R184Q	ENSP00000253001:R264Q	R	+	2	0	LSM14B	60139098	1.000000	0.71417	0.885000	0.34714	0.998000	0.95712	7.622000	0.83099	2.629000	0.89072	0.555000	0.69702	CGA		0.398	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		8	26	0	0	0	1	0	8	26				
PDE2A	5138	broad.mit.edu	37	11	72295279	72295279	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:72295279G>A	ENST00000334456.5	-	19	1861	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.A532V|PDE2A_ENST00000418754.2_Missense_Mutation_p.A424V|PDE2A_ENST00000376450.3_Missense_Mutation_p.A283V|PDE2A_ENST00000540345.1_Missense_Mutation_p.A530V|PDE2A_ENST00000444035.2_Missense_Mutation_p.A530V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	539	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GATGGAGAAGGCCGTCGCCAG	0.637																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1615-1617)gCc>gTc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						68.0	54.0	59.0					11																	72295279		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72295279G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1616C>T	11.37:g.72295279G>A	ENSP00000334910:p.Ala539Val					PDE2A_ENST00000418754.2_Missense_Mutation_p.A424V|PDE2A_ENST00000540345.1_Missense_Mutation_p.A530V|PDE2A_ENST00000376450.3_Missense_Mutation_p.A283V|PDE2A_ENST00000444035.2_Missense_Mutation_p.A530V|PDE2A_ENST00000544570.1_Missense_Mutation_p.A532V	p.A539V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		19	1861	-			539			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1616C>T	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	36	5.628001	0.96671	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000441209	T;T;T;T;T;T;T	0.70516	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.49	5.21	5.21	0.72293	GAF (2);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	M	0.64260	1.97	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.997;1.0;1.0;0.997;0.997	P;P;D;D;D;P	0.70487	0.899;0.908;0.969;0.967;0.929;0.868	T	0.82165	-0.0592	10	0.48119	T	0.1	.	17.3266	0.87249	0.0:0.0:1.0:0.0	.	424;539;530;532;539;283	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	V	539;283;530;608;532;424;530;80	ENSP00000334910:A539V;ENSP00000365633:A283V;ENSP00000411657:A530V;ENSP00000442256:A532V;ENSP00000410310:A424V;ENSP00000446399:A530V;ENSP00000392457:A80V	ENSP00000334910:A539V	A	-	2	0	PDE2A	71972927	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	9.426000	0.97469	2.421000	0.82119	0.491000	0.48974	GCC		0.637	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		10	26	0	0	0	1	0	10	26				
CSMD3	114788	broad.mit.edu	37	8	113668571	113668571	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:113668571C>A	ENST00000297405.5	-	18	3061		c.e18-1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTCTGAAATCTAAGATTAAA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Unknown(2)	p.?(2)	lung(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e18-1		CUB and Sushi multiple domains 3							48.0	51.0	50.0					8																	113668571		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113668571C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2817-1G>T	8.37:g.113668571C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			18	3061	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545589	0.45280	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9343	0.92579	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113737747	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	7.776000	0.85560	2.542000	0.85734	0.591000	0.81541	.		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	11	43	1	0	0.000978159	1	0.00100407	11	43				
HMBS	3145	broad.mit.edu	37	11	118963891	118963891	+	Silent	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:118963891G>A	ENST00000278715.3	+	14	1135	c.984G>A	c.(982-984)caG>caA	p.Q328Q	HMBS_ENST00000442944.2_Silent_p.Q311Q|HMBS_ENST00000392841.1_Silent_p.Q311Q|HMBS_ENST00000543090.1_Silent_p.Q297Q|HMBS_ENST00000537841.1_Silent_p.Q311Q|HMBS_ENST00000544387.1_Silent_p.Q288Q|HMBS_ENST00000542729.1_Silent_p.Q271Q	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	328					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GAGGGCCCCAGTTGGCTGCCC	0.542																																						ENST00000537841.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(931-933)caG>caA		hydroxymethylbilane synthase							104.0	86.0	92.0					11																	118963891		2200	4295	6495	SO:0001819	synonymous_variant	3145				peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118963891G>A	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.984G>A	11.37:g.118963891G>A						HMBS_ENST00000392841.1_Silent_p.Q311Q|HMBS_ENST00000278715.3_Silent_p.Q328Q|HMBS_ENST00000544387.1_Silent_p.Q288Q|HMBS_ENST00000442944.2_Silent_p.Q311Q|HMBS_ENST00000542729.1_Silent_p.Q271Q|HMBS_ENST00000543090.1_Silent_p.Q297Q	p.Q311Q			P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	14	1224	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	328					A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Silent	SNP	ENST00000278715.3	37	c.933G>A	CCDS8409.1																																																																																				0.542	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		23	62	0	0	0	1	0	23	62				
SMTNL2	342527	broad.mit.edu	37	17	4510712	4510712	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:4510712G>A	ENST00000389313.4	+	8	1383	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	439	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTGATGGGCCGCAAGCCGGAC	0.582																																						ENST00000389313.4																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(1315-1317)cGc>cAc		smoothelin-like 2							166.0	156.0	160.0					17																	4510712		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4510712G>A	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1316G>A	17.37:g.4510712G>A	ENSP00000373964:p.Arg439His					SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	p.R439H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	8	1383	+			439			CH.		Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.1316G>A	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579375	0.46006	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.81908	-1.55;-1.55	5.18	3.18	0.36537	Calponin homology domain (5);	.	.	.	.	T	0.70046	0.3179	L	0.28115	0.83	0.36226	D	0.852296	P	0.38440	0.631	B	0.35312	0.2	T	0.72357	-0.4318	9	0.35671	T	0.21	-16.6464	9.2698	0.37664	0.1765:0.0:0.8235:0.0	.	439	Q2TAL5	SMTL2_HUMAN	H	295;439	ENSP00000345143:R295H;ENSP00000373964:R439H	ENSP00000345143:R295H	R	+	2	0	SMTNL2	4457461	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.347000	0.20014	1.331000	0.45412	-0.140000	0.14226	CGC		0.582	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		4	171	0	0	0	1	0	4	171				
KRT14	3861	broad.mit.edu	37	17	39740159	39740159	+	Silent	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:39740159C>G	ENST00000167586.6	-	4	866	c.780G>C	c.(778-780)ctG>ctC	p.L260L		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	260	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CCTGGCCTCTCAGGGCATTCA	0.577																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(778-780)ctG>ctC		keratin 14							86.0	76.0	79.0					17																	39740159		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740159C>G	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.780G>C	17.37:g.39740159C>G							p.L260L	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	866	-		Breast(137;0.000307)	260			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.780G>C	CCDS11400.1																																																																																				0.577	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		4	79	0	0	0	1	0	4	79				
NCAM1	4684	broad.mit.edu	37	11	113126633	113126633	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:113126633G>A	ENST00000533760.1	+	15	2078	c.1479G>A	c.(1477-1479)atG>atA	p.M493I	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.M611I	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	621	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AAGGGCAGATGGGAGAGGATG	0.502																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1831-1833)atG>atA		neural cell adhesion molecule 1							47.0	48.0	48.0					11																	113126633		1979	4142	6121	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113126633G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1479G>A	11.37:g.113126633G>A	ENSP00000473281:p.Met493Ile					NCAM1_ENST00000533760.1_Missense_Mutation_p.M493I|NCAM1_ENST00000397957.4_3'UTR	p.M611I	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	14	1833	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	621			Fibronectin type-III 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1833G>A		.	.	.	.	.	.	.	.	.	.	G	14.12	2.441722	0.43326	.	.	ENSG00000149294	ENST00000531044;ENST00000316851;ENST00000433634	T	0.55760	0.5	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.357823	0.27896	U	0.017404	T	0.36799	0.0980	.	.	.	0.40432	D	0.979958	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.001;0.002;0.003	T	0.19976	-1.0289	9	0.11485	T	0.65	-41.69	15.4277	0.75065	0.0683:0.0:0.9317:0.0	.	493;611;621;646	E9PLH7;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	I	493;611;76	ENSP00000318472:M611I	ENSP00000318472:M611I	M	+	3	0	NCAM1	112631843	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.833000	0.48159	2.882000	0.98803	0.655000	0.94253	ATG		0.502	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		4	13	0	0	0	1	0	4	13				
GPR141	353345	broad.mit.edu	37	7	37780629	37780629	+	Missense_Mutation	SNP	C	C	T	rs375407880		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr7:37780629C>T	ENST00000447769.1	+	4	923	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	GPR141_ENST00000334425.1_Missense_Mutation_p.R212C|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAGAAGCTACGCCACTCTTT	0.413																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(634-636)Cgc>Tgc		G protein-coupled receptor 141		C	CYS/ARG	0,4406		0,0,2203	208.0	196.0	200.0		634	-1.8	0.0	7		200	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR141	NM_181791.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	212/306	37780629	1,13005	2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780629C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.634C>T	7.37:g.37780629C>T	ENSP00000390410:p.Arg212Cys					GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R212C|EPDR1_ENST00000476620.1_Intron	p.R212C			Q7Z602	GP141_HUMAN			4	923	+			212					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.634C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534336	0.45073	0.0	1.16E-4	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.42900	0.96;0.96	5.01	-1.84	0.07809	GPCR, rhodopsin-like superfamily (1);	0.782116	0.12028	N	0.506222	T	0.44850	0.1313	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	P	0.57911	0.829	T	0.34004	-0.9846	10	0.66056	D	0.02	-0.6095	2.8547	0.05569	0.2149:0.3088:0.3423:0.134	.	212	Q7Z602	GP141_HUMAN	C	212	ENSP00000390410:R212C;ENSP00000334540:R212C	ENSP00000334540:R212C	R	+	1	0	GPR141	37747154	0.000000	0.05858	0.000000	0.03702	0.809000	0.45718	0.181000	0.16880	-0.442000	0.07190	-0.211000	0.12701	CGC		0.413	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		23	121	0	0	0	1	0	23	121				
BTN2A3P	54718	broad.mit.edu	37	6	26423441	26423441	+	RNA	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:26423441C>G	ENST00000466808.2	+	0	360							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											ATAACGGCATCTACCAGTGTT	0.527																																						ENST00000466808.2																			0																				136.0	100.0	112.0					6																	26423441		2203	4300	6503			54718							g.chr6:26423441C>G	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26423441C>G														0	360	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.527	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		15	55	0	0	0	1	0	15	55				
FGFR2	2263	broad.mit.edu	37	10	123276852	123276852	+	Silent	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr10:123276852T>C	ENST00000358487.5	-	8	1337	c.1065A>G	c.(1063-1065)gcA>gcG	p.A355A	FGFR2_ENST00000478859.1_Silent_p.A127A|FGFR2_ENST00000351936.6_Silent_p.A355A|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000356226.4_Silent_p.A240A|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000346997.2_Silent_p.A355A|FGFR2_ENST00000357555.5_Silent_p.A266A|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	355	Ig-like C2-type 3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTGTCAACCATGCAGAGTGAA	0.403		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(1063-1065)gcA>gcG		fibroblast growth factor receptor 2	Palifermin(DB00039)						118.0	108.0	111.0					10																	123276852		2203	4300	6503	SO:0001819	synonymous_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123276852T>C	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1065A>G	10.37:g.123276852T>C						FGFR2_ENST00000346997.2_Silent_p.A355A|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000351936.6_Silent_p.A355A|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Intron|FGFR2_ENST00000356226.4_Silent_p.A240A|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000478859.1_Silent_p.A127A|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000357555.5_Silent_p.A266A	p.A355A	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	8	1337	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	355			Ig-like C2-type 3.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	c.1065A>G	CCDS31298.1																																																																																				0.403	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		5	46	0	0	0	1	0	5	46				
SORL1	6653	broad.mit.edu	37	11	121420792	121420792	+	Silent	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:121420792G>A	ENST00000260197.7	+	15	2304	c.2175G>A	c.(2173-2175)acG>acA	p.T725T		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	725					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACAGGAGAACGAGAGGGTATG	0.502																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2173-2175)acG>acA		sortilin-related receptor, L(DLR class) A repeats containing							94.0	85.0	88.0					11																	121420792		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121420792G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2175G>A	11.37:g.121420792G>A							p.T725T	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	15	2304	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	725					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.2175G>A	CCDS8436.1																																																																																				0.502	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		8	31	0	0	0	1	0	8	31				
KRT31	3881	broad.mit.edu	37	17	39551731	39551731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:39551731G>A	ENST00000251645.2	-	4	785	c.733C>T	c.(733-735)Caa>Taa	p.Q245*		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	245	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GTGAACCATTGCTCCACTTCC	0.632																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(733-735)Caa>Taa		keratin 31							114.0	105.0	108.0					17																	39551731		2203	4300	6503	SO:0001587	stop_gained	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551731G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.733C>T	17.37:g.39551731G>A	ENSP00000251645:p.Gln245*						p.Q245*	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			4	785	-		Breast(137;0.000496)	245			Coil 2.|Rod.		Q9UE12	Nonsense_Mutation	SNP	ENST00000251645.2	37	c.733C>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.911660	0.92178	.	.	ENSG00000094796	ENST00000251645	.	.	.	5.4	4.43	0.53597	.	0.091195	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.7657	0.34702	0.0:0.7597:0.1602:0.0801	.	.	.	.	X	245	.	ENSP00000251645:Q245X	Q	-	1	0	KRT31	36805257	0.001000	0.12720	1.000000	0.80357	0.967000	0.64934	0.100000	0.15231	1.262000	0.44165	-0.344000	0.07964	CAA		0.632	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		15	82	0	0	0	1	0	15	82				
TACC3	10460	broad.mit.edu	37	4	1730043	1730043	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr4:1730043C>A	ENST00000313288.4	+	4	1020	c.914C>A	c.(913-915)aCc>aAc	p.T305N		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	305					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACAGCCCCAACCAACCACCTG	0.637																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(913-915)aCc>aAc		transforming, acidic coiled-coil containing protein 3							29.0	29.0	29.0					4																	1730043		2203	4297	6500	SO:0001583	missense	10460					centrosome		g.chr4:1730043C>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.914C>A	4.37:g.1730043C>A	ENSP00000326550:p.Thr305Asn						p.T305N	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1020	+		Breast(71;0.212)|all_epithelial(65;0.241)	305					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.914C>A	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504312	0.44558	.	.	ENSG00000013810	ENST00000313288	T	0.09723	2.95	4.25	1.46	0.22682	.	1.176470	0.06528	U	0.740867	T	0.10208	0.0250	L	0.44542	1.39	0.09310	N	1	P;P	0.41848	0.763;0.48	B;B	0.41988	0.372;0.067	T	0.31558	-0.9939	10	0.17369	T	0.5	-0.4375	4.5896	0.12301	0.1751:0.6354:0.0:0.1895	.	305;305	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	N	305	ENSP00000326550:T305N	ENSP00000326550:T305N	T	+	2	0	TACC3	1699841	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.642000	0.05427	0.361000	0.24292	0.411000	0.27672	ACC		0.637	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			7	48	1	0	0.0381472	1	0.0386459	7	48				
SPEN	23013	broad.mit.edu	37	1	16260177	16260177	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:16260177C>T	ENST00000375759.3	+	11	7646	c.7442C>T	c.(7441-7443)tCa>tTa	p.S2481L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2481	Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCAAAGCTCTCACCTCCTGTC	0.582																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7441-7443)tCa>tTa		spen family transcriptional repressor							102.0	85.0	91.0					1																	16260177		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260177C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7442C>T	1.37:g.16260177C>T	ENSP00000364912:p.Ser2481Leu						p.S2481L	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7646	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2481			Pro-rich.|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7442C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	1.217	-0.627987	0.03610	.	.	ENSG00000065526	ENST00000375759	T	0.08193	3.12	5.04	5.04	0.67666	.	.	.	.	.	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.38023	-0.9680	9	0.52906	T	0.07	-3.3218	18.3918	0.90486	0.0:1.0:0.0:0.0	.	2481	Q96T58	MINT_HUMAN	L	2481	ENSP00000364912:S2481L	ENSP00000364912:S2481L	S	+	2	0	SPEN	16132764	0.970000	0.33590	0.026000	0.17262	0.075000	0.17131	2.684000	0.46951	2.352000	0.79861	0.561000	0.74099	TCA		0.582	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		25	93	0	0	0	1	0	25	93				
RAB3GAP2	25782	broad.mit.edu	37	1	220364494	220364494	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:220364494T>C	ENST00000358951.2	-	14	1519	c.1403A>G	c.(1402-1404)tAt>tGt	p.Y468C		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	468					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTTGGCGCATAGATCACAAG	0.483																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1402-1404)tAt>tGt		RAB3 GTPase activating protein subunit 2 (non-catalytic)							137.0	134.0	135.0					1																	220364494		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364494T>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1403A>G	1.37:g.220364494T>C	ENSP00000351832:p.Tyr468Cys						p.Y468C	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1519	-			468					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1403A>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541554	0.85917	.	.	ENSG00000118873	ENST00000358951	D	0.89746	-2.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94514	0.7721	10	0.87932	D	0	.	15.8684	0.79084	0.0:0.0:0.0:1.0	.	468	Q9H2M9	RBGPR_HUMAN	C	468	ENSP00000351832:Y468C	ENSP00000351832:Y468C	Y	-	2	0	RAB3GAP2	218431117	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	7.392000	0.79840	2.156000	0.67533	0.460000	0.39030	TAT		0.483	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		15	67	0	0	0	1	0	15	67				
GPR50	9248	broad.mit.edu	37	X	150349760	150349760	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chrX:150349760G>T	ENST00000218316.3	+	2	1774	c.1705G>T	c.(1705-1707)Gct>Tct	p.A569S	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	569	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCCCTGCCGCTGGGCCCAC	0.602																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1705-1707)Gct>Tct		G protein-coupled receptor 50							72.0	78.0	76.0					X																	150349760		2150	4240	6390	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349760G>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1705G>T	X.37:g.150349760G>T	ENSP00000218316:p.Ala569Ser						p.A569S	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1774	+	Acute lymphoblastic leukemia(192;6.56e-05)		569			Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1705G>T	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.544652	0.00934	.	.	ENSG00000102195	ENST00000218316	T	0.71934	-0.61	3.07	-2.83	0.05769	.	.	.	.	.	T	0.34193	0.0889	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28650	-1.0037	9	0.05959	T	0.93	-0.6123	0.7175	0.00934	0.4501:0.1661:0.2196:0.1642	.	569	Q13585	MTR1L_HUMAN	S	569	ENSP00000218316:A569S	ENSP00000218316:A569S	A	+	1	0	GPR50	150100418	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.482000	0.02320	-0.692000	0.05128	-0.810000	0.03169	GCT		0.602	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		28	27	1	0	8.24728e-16	1	9.4691e-16	28	27				
KCNG1	3755	broad.mit.edu	37	20	49620823	49620823	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr20:49620823G>A	ENST00000371571.4	-	3	1580	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	432					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTGCTCCTGGGGACCATGTC	0.637																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1294-1296)cCc>cTc		potassium voltage-gated channel, subfamily G, member 1							94.0	83.0	86.0					20																	49620823		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620823G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1295C>T	20.37:g.49620823G>A	ENSP00000360626:p.Pro432Leu					RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	p.P432L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1580	-			432					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1295C>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175734	0.78564	.	.	ENSG00000026559	ENST00000371571	D	0.98777	-5.13	5.49	4.52	0.55395	Ion transport (1);	0.050255	0.85682	D	0.000000	D	0.99548	0.9838	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97634	1.0144	9	.	.	.	.	15.3804	0.74651	0.0:0.0:0.8594:0.1406	.	432	Q9UIX4	KCNG1_HUMAN	L	432	ENSP00000360626:P432L	.	P	-	2	0	KCNG1	49054230	1.000000	0.71417	0.737000	0.30932	0.955000	0.61496	9.808000	0.99193	1.251000	0.43983	0.462000	0.41574	CCC		0.637	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		21	57	0	0	0	1	0	21	57				
ALDH16A1	126133	broad.mit.edu	37	19	49964134	49964134	+	Silent	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:49964134G>A	ENST00000293350.4	+	5	718	c.555G>A	c.(553-555)agG>agA	p.R185R	ALDH16A1_ENST00000433981.2_Silent_p.R20R|ALDH16A1_ENST00000455361.2_Silent_p.R185R|ALDH16A1_ENST00000540132.1_Silent_p.R22R|CTD-3148I10.9_ENST00000599536.1_5'Flank	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	185						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGATGTGGAGGATTTGCCCTG	0.542																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(553-555)agG>agA		aldehyde dehydrogenase 16 family, member A1							102.0	93.0	96.0					19																	49964134		2203	4300	6503	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49964134G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.555G>A	19.37:g.49964134G>A						ALDH16A1_ENST00000455361.2_Silent_p.R185R|ALDH16A1_ENST00000433981.2_Silent_p.R20R|ALDH16A1_ENST00000540132.1_Silent_p.R22R	p.R185R	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	5	718	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	185					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.555G>A	CCDS12766.1																																																																																				0.542	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		21	58	0	0	0	1	0	21	58				
TACC3	10460	broad.mit.edu	37	4	1730058	1730058	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr4:1730058C>A	ENST00000313288.4	+	4	1035	c.929C>A	c.(928-930)gCt>gAt	p.A310D		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	310					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CACCTGGTGGCTGGCAGGGCC	0.597																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(928-930)gCt>gAt		transforming, acidic coiled-coil containing protein 3							28.0	29.0	29.0					4																	1730058		2203	4297	6500	SO:0001583	missense	10460					centrosome		g.chr4:1730058C>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.929C>A	4.37:g.1730058C>A	ENSP00000326550:p.Ala310Asp						p.A310D	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1035	+		Breast(71;0.212)|all_epithelial(65;0.241)	310					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.929C>A	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398391	0.25205	.	.	ENSG00000013810	ENST00000313288	T	0.14893	2.47	3.6	1.65	0.23941	.	1.966110	0.03521	N	0.221031	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	P;B	0.41131	0.739;0.232	B;B	0.35770	0.21;0.077	T	0.18429	-1.0337	10	0.54805	T	0.06	-0.9537	3.267	0.06869	0.2599:0.5968:0.0:0.1433	.	310;310	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	D	310	ENSP00000326550:A310D	ENSP00000326550:A310D	A	+	2	0	TACC3	1699856	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.036000	0.13819	1.742000	0.51746	0.411000	0.27672	GCT		0.597	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			7	48	1	0	0.27861	1	0.27861	7	48				
FAT4	79633	broad.mit.edu	37	4	126411348	126411348	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr4:126411348C>A	ENST00000394329.3	+	17	13384	c.13371C>A	c.(13369-13371)caC>caA	p.H4457Q	FAT4_ENST00000335110.5_Missense_Mutation_p.H2698Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4457	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGACTCGCACACGGGAAGGA	0.632																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13369-13371)caC>caA		FAT atypical cadherin 4							75.0	68.0	70.0					4																	126411348		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411348C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13371C>A	4.37:g.126411348C>A	ENSP00000377862:p.His4457Gln					FAT4_ENST00000335110.5_Missense_Mutation_p.H2698Q	p.H4457Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13384	+			4457			EGF-like 6.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13371C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	8.603	0.887352	0.17540	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.86030	-2.06;-2.06	5.17	4.32	0.51571	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.219002	0.22500	U	0.059246	T	0.77405	0.4125	N	0.24115	0.695	0.40614	D	0.981708	P;P;P	0.44195	0.828;0.475;0.531	B;B;B	0.41988	0.372;0.063;0.145	T	0.81104	-0.1084	10	0.59425	D	0.04	.	13.0694	0.59053	0.0:0.9211:0.0:0.0789	.	2698;4457;4456	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Q	4457;2698	ENSP00000377862:H4457Q;ENSP00000335169:H2698Q	ENSP00000335169:H2698Q	H	+	3	2	FAT4	126630798	1.000000	0.71417	0.990000	0.47175	0.027000	0.11550	1.149000	0.31626	2.395000	0.81488	0.561000	0.74099	CAC		0.632	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	92	1	0	0.000219431	1	0.00022981	14	92				
TATDN1	83940	broad.mit.edu	37	8	125498293	125498293	+	IGR	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:125498293C>G	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.L135V|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CGTTCTACAGCTAACATTTGG	0.413																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(403-405)Cta>Gta		ring finger protein 139							140.0	125.0	130.0					8																	125498293		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498293C>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498293C>G							p.L135V	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	775	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		135					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.403C>G	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483710	0.44147	.	.	ENSG00000170881	ENST00000303545;ENST00000517684	T	0.27402	1.67	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.53012	0.1770	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.50709	-0.8796	10	0.46703	T	0.11	-6.7871	19.0093	0.92867	0.0:1.0:0.0:0.0	.	135	Q8WU17	RN139_HUMAN	V	135;8	ENSP00000304051:L135V	ENSP00000304051:L135V	L	+	1	2	RNF139	125567474	1.000000	0.71417	0.987000	0.45799	0.334000	0.28698	4.407000	0.59754	2.539000	0.85634	0.650000	0.86243	CTA		0.413	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		8	102	0	0	0	1	0	8	102				
TAS2R31	259290	broad.mit.edu	37	12	11183589	11183589	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:11183589G>A	ENST00000390675.2	-	1	417	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	116					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						AGAAAAATAAGGTTGGAGAAA	0.393																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(346-348)Ctt>Ttt		taste receptor, type 2, member 31							91.0	108.0	103.0					12																	11183589		2061	4264	6325	SO:0001583	missense	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183589G>A	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.346C>T	12.37:g.11183589G>A	ENSP00000375093:p.Leu116Phe					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.L116F	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	417	-			116					P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	c.346C>T	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	7.925	0.739358	0.15642	.	.	ENSG00000256436	ENST00000390675	T	0.37584	1.19	2.45	-1.04	0.10068	.	.	.	.	.	T	0.21761	0.0524	L	0.31526	0.94	0.09310	N	1	B	0.12630	0.006	B	0.17979	0.02	T	0.24870	-1.0148	9	0.27785	T	0.31	.	5.2258	0.15393	0.6128:0.0:0.3872:0.0	.	116	P59538	T2R31_HUMAN	F	116	ENSP00000375093:L116F	ENSP00000375093:L116F	L	-	1	0	TAS2R31	11074856	0.000000	0.05858	0.001000	0.08648	0.341000	0.28922	-2.006000	0.01459	-0.091000	0.12440	0.194000	0.17425	CTT		0.393	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		4	108	0	0	0	1	0	4	108				
KRTAP12-4	386684	broad.mit.edu	37	21	46074226	46074226	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr21:46074226T>A	ENST00000391618.1	-	1	350	c.306A>T	c.(304-306)agA>agT	p.R102S	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	102						keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						AGGTGACAGGTCTATAGACCA	0.617																																						ENST00000391618.1																			0				lung(4)|ovary(1)|prostate(1)	6						c.(304-306)agA>agT		keratin associated protein 12-4							33.0	41.0	38.0					21																	46074226		2079	4201	6280	SO:0001583	missense	386684					keratin filament		g.chr21:46074226T>A	AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"""Keratin associated proteins"""	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.306A>T	21.37:g.46074226T>A	ENSP00000375476:p.Arg102Ser					TSPEAR_ENST00000323084.4_Intron	p.R102S	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN			1	350	-			102					Q08AF5	Missense_Mutation	SNP	ENST00000391618.1	37	c.306A>T	CCDS42963.1	.	.	.	.	.	.	.	.	.	.	t	14.66	2.601884	0.46423	.	.	ENSG00000212933	ENST00000391618	T	0.02323	4.34	3.58	-4.57	0.03421	.	.	.	.	.	T	0.03564	0.0102	L	0.56769	1.78	0.09310	N	1	P	0.50528	0.936	P	0.45276	0.475	T	0.29941	-0.9995	9	0.27785	T	0.31	.	5.7782	0.18292	0.0:0.2165:0.5107:0.2729	.	102	P60329	KR124_HUMAN	S	102	ENSP00000375476:R102S	ENSP00000375476:R102S	R	-	3	2	KRTAP12-4	44898654	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.506000	0.06359	-0.549000	0.06191	-0.644000	0.03951	AGA		0.617	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128036.1			12	52	0	0	0	1	0	12	52				
OBSCN	84033	broad.mit.edu	37	1	228451984	228451984	+	Missense_Mutation	SNP	G	G	T	rs369298350		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:228451984G>T	ENST00000422127.1	+	16	4797	c.4753G>T	c.(4753-4755)Gtg>Ttg	p.V1585L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V241L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1585L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.V1769L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1585	Ig-like 16.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AATGGAGGCCGTGGGCTGCAC	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5305-5307)Gtg>Ttg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	LEU/VAL,LEU/VAL	0,4234		0,0,2117	55.0	61.0	59.0		4753,4753	-9.6	0.0	1		59	1,8451		0,1,4225	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	32,32	0,1,6342	TT,TG,GG		0.0118,0.0,0.0079	possibly-damaging,possibly-damaging	1585/7969,1585/6621	228451984	1,12685	2117	4226	6343	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228451984G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4753G>T	1.37:g.228451984G>T	ENSP00000409493:p.Val1585Leu					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V1585L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1585L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V241L	p.V1769L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			18	5379	+		Prostate(94;0.0405)	757			Fibronectin type-III 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5305G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	7.404	0.633421	0.14322	0.0	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	4.82	-9.64	0.00541	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.685180	0.02136	N	0.056724	T	0.44350	0.1289	N	0.25789	0.76	0.09310	N	0.999999	B;B	0.25007	0.021;0.116	B;B	0.24394	0.053;0.042	T	0.25012	-1.0144	10	0.27082	T	0.32	.	3.3118	0.07020	0.2018:0.2166:0.4408:0.1408	.	1585;1585	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	1585;1585;241	ENSP00000284548:V1585L;ENSP00000409493:V1585L;ENSP00000352613:V241L	ENSP00000284548:V1585L	V	+	1	0	OBSCN	226518607	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.071000	0.14594	-2.145000	0.00801	-0.218000	0.12543	GTG		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	73	1	0	1.66031e-10	1	1.85142e-10	26	73				
PHF3	23469	broad.mit.edu	37	6	64416061	64416061	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:64416061C>A	ENST00000262043.3	+	12	3850	c.3510C>A	c.(3508-3510)ttC>ttA	p.F1170L	PHF3_ENST00000393387.1_Missense_Mutation_p.F1170L			Q92576	PHF3_HUMAN	PHD finger protein 3	1170					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTCTGAATTCTTTGAGGAGG	0.373																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3508-3510)ttC>ttA		PHD finger protein 3							88.0	82.0	84.0					6																	64416061		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64416061C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3510C>A	6.37:g.64416061C>A	ENSP00000262043:p.Phe1170Leu					PHF3_ENST00000393387.1_Missense_Mutation_p.F1170L	p.F1170L			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		12	3850	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1170					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3510C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894794	0.33442	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.39229	2.4;1.09;2.44;2.44	5.79	1.73	0.24493	.	0.435749	0.17083	N	0.187698	T	0.04003	0.0112	N	0.04043	-0.29	0.27470	N	0.952907	B	0.02656	0.0	B	0.04013	0.001	T	0.42766	-0.9432	10	0.02654	T	1	-1.7114	4.8383	0.13476	0.5092:0.3096:0.1071:0.0741	.	1170	Q92576	PHF3_HUMAN	L	984;439;1170;1170	ENSP00000424694:F984L;ENSP00000425338:F439L;ENSP00000262043:F1170L;ENSP00000377048:F1170L	ENSP00000262043:F1170L	F	+	3	2	PHF3	64474020	0.997000	0.39634	1.000000	0.80357	0.955000	0.61496	0.369000	0.20416	0.334000	0.23590	0.655000	0.94253	TTC		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			6	47	1	0	0.00116845	1	0.00119151	6	47				
MINPP1	9562	broad.mit.edu	37	10	89280889	89280889	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr10:89280889T>C	ENST00000371996.4	+	4	1071	c.1030T>C	c.(1030-1032)Ttt>Ctt	p.F344L	MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.F143L	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	344				F -> S (in Ref. 3; CAB43673). {ECO:0000305}.	bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TCAGGATATCTTTCAGCACTT	0.318																																						ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(1030-1032)Ttt>Ctt		multiple inositol-polyphosphate phosphatase 1							76.0	76.0	76.0					10																	89280889		2203	4300	6503	SO:0001583	missense	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89280889T>C	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1030T>C	10.37:g.89280889T>C	ENSP00000361064:p.Phe344Leu					MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.F143L	p.F344L	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	4	1071	+		Colorectal(252;0.122)	344	F -> S (in Ref. 3; CAB43673).				F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.1030T>C	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.314779	0.60524	.	.	ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010	T;T	0.20463	2.07;2.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	L	0.55743	1.74	0.58432	D	0.999995	B	0.12630	0.006	B	0.19666	0.026	T	0.05666	-1.0871	10	0.09590	T	0.72	-8.2922	13.4321	0.61062	0.0:0.0:0.0:1.0	.	344	Q9UNW1	MINP1_HUMAN	L	344;203;143	ENSP00000361064:F344L;ENSP00000437823:F143L	ENSP00000361064:F344L	F	+	1	0	MINPP1	89270869	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.015000	0.76387	2.049000	0.60858	0.482000	0.46254	TTT		0.318	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			4	129	0	0	0	1	0	4	129				
NPAS4	266743	broad.mit.edu	37	11	66188698	66188698	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:66188698C>G	ENST00000311034.2	+	1	224	c.48C>G	c.(46-48)atC>atG	p.I16M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	16	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGACCAGATCAACGCCGAGA	0.677																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(46-48)atC>atG		neuronal PAS domain protein 4							41.0	35.0	37.0					11																	66188698		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66188698C>G	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.48C>G	11.37:g.66188698C>G	ENSP00000311196:p.Ile16Met						p.I16M	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			1	224	+			16			Helix-loop-helix motif.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.48C>G	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241149	0.79912	.	.	ENSG00000174576	ENST00000311034	T	0.48201	0.82	5.19	5.19	0.71726	Helix-loop-helix DNA-binding (1);	0.000000	0.56097	D	0.000032	T	0.58892	0.2154	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53823	-0.8384	10	0.34782	T	0.22	-14.0755	16.2538	0.82501	0.0:1.0:0.0:0.0	.	16	Q8IUM7	NPAS4_HUMAN	M	16	ENSP00000311196:I16M	ENSP00000311196:I16M	I	+	3	3	NPAS4	65945274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.382000	0.66213	2.691000	0.91804	0.563000	0.77884	ATC		0.677	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		9	23	0	0	0	1	0	9	23				
ANGPTL5	253935	broad.mit.edu	37	11	101762128	101762128	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:101762128G>C	ENST00000334289.3	-	9	1644	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	350	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAATTTTCCAGAGAAGTGATG	0.418																																						ENST00000334289.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(1048-1050)tCt>tGt		angiopoietin-like 5							166.0	165.0	165.0					11																	101762128		2203	4299	6502	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101762128G>C	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.1049C>G	11.37:g.101762128G>C	ENSP00000335255:p.Ser350Cys						p.S350C	NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	9	1644	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	350			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.1049C>G	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381294	0.42207	.	.	ENSG00000187151	ENST00000334289	T	0.77489	-1.1	5.25	4.34	0.51931	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.670888	0.15890	N	0.239608	T	0.73745	0.3626	L	0.41573	1.285	0.09310	N	1	P	0.35155	0.487	B	0.43123	0.409	T	0.65890	-0.6058	10	0.52906	T	0.07	.	8.8286	0.35069	0.0746:0.0:0.7748:0.1506	.	350	Q86XS5	ANGL5_HUMAN	C	350	ENSP00000335255:S350C	ENSP00000335255:S350C	S	-	2	0	ANGPTL5	101267338	0.989000	0.36119	0.022000	0.16811	0.921000	0.55340	2.144000	0.42197	1.203000	0.43233	-0.175000	0.13238	TCT		0.418	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		32	94	0	0	0	1	0	32	94				
OR10G9	219870	broad.mit.edu	37	11	123894176	123894176	+	Silent	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:123894176C>T	ENST00000375024.1	+	1	457	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L153V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGTGGCTCTCTGCACTCTGC	0.542																																						ENST00000375024.1																			1	Substitution - Missense(1)	p.L153V(1)	breast(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(457-459)Ctg>Ttg		olfactory receptor, family 10, subfamily G, member 9							143.0	121.0	128.0					11																	123894176		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894176C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.457C>T	11.37:g.123894176C>T							p.L153L	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	457	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	153						Silent	SNP	ENST00000375024.1	37	c.457C>T	CCDS31703.1																																																																																				0.542	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		28	106	0	0	0	1	0	28	106				
REEP4	80346	broad.mit.edu	37	8	21997501	21997501	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:21997501T>G	ENST00000306306.3	-	4	746	c.278A>C	c.(277-279)cAc>cCc	p.H93P	REEP4_ENST00000523293.1_Missense_Mutation_p.H93P|REEP4_ENST00000334530.5_Missense_Mutation_p.H93P	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	93					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CAGGGACGGGTGGACAAACTT	0.587																																						ENST00000306306.3																			0				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7						c.(277-279)cAc>cCc		receptor accessory protein 4							27.0	26.0	26.0					8																	21997501		2201	4295	6496	SO:0001583	missense	80346					integral to membrane		g.chr8:21997501T>G	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.278A>C	8.37:g.21997501T>G	ENSP00000303482:p.His93Pro					REEP4_ENST00000523293.1_Missense_Mutation_p.H93P|REEP4_ENST00000334530.5_Missense_Mutation_p.H93P	p.H93P	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN		Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)	4	746	-			93					D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	ENST00000306306.3	37	c.278A>C	CCDS6024.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568095	0.86439	.	.	ENSG00000168476	ENST00000334530;ENST00000306306;ENST00000523293;ENST00000518664	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	4.06	4.06	0.47325	.	0.000000	0.64402	D	0.000013	D	0.96987	0.9016	H	0.96048	3.76	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.986;0.997;0.998	D	0.97340	0.9956	10	0.72032	D	0.01	-10.5002	11.2682	0.49122	0.0:0.0:0.0:1.0	.	93;93;93	B4DYB6;Q9H6H4-2;Q9H6H4	.;.;REEP4_HUMAN	P	93	ENSP00000333889:H93P;ENSP00000303482:H93P;ENSP00000428709:H93P;ENSP00000428160:H93P	ENSP00000303482:H93P	H	-	2	0	REEP4	22053446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	1.605000	0.50152	0.459000	0.35465	CAC		0.587	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	NM_025232		4	2	0	0	0	1	0	4	2				
PHF12	57649	broad.mit.edu	37	17	27233293	27233293	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:27233293C>T	ENST00000332830.4	-	15	3733	c.2923G>A	c.(2923-2925)Gat>Aat	p.D975N	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGCTGGCATCGCCTTTGGGC	0.597																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2923-2925)Gat>Aat		PHD finger protein 12							53.0	58.0	56.0					17																	27233293		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233293C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2923G>A	17.37:g.27233293C>T	ENSP00000329933:p.Asp975Asn					PHF12_ENST00000577226.1_3'UTR	p.D975N	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		15	3733	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		975						Missense_Mutation	SNP	ENST00000332830.4	37	c.2923G>A	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	c	14.21	2.466595	0.43839	.	.	ENSG00000109118	ENST00000332830	D	0.94793	-3.52	5.28	3.18	0.36537	.	0.124643	0.56097	D	0.000029	D	0.89602	0.6762	L	0.36672	1.1	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	D	0.86165	0.1596	10	0.72032	D	0.01	-17.6425	8.5873	0.33666	0.1517:0.7673:0.0:0.081	.	957;975	B4DFE2;Q96QT6	.;PHF12_HUMAN	N	975	ENSP00000329933:D975N	ENSP00000329933:D975N	D	-	1	0	PHF12	24257419	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.345000	0.65987	1.249000	0.43950	-0.141000	0.14075	GAT		0.597	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		7	41	0	0	0	1	0	7	41				
SHC4	399694	broad.mit.edu	37	15	49160017	49160017	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr15:49160017C>T	ENST00000332408.4	-	6	1372	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	SHC4_ENST00000396535.3_Missense_Mutation_p.R72Q|SHC4_ENST00000537958.1_Missense_Mutation_p.R29Q	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	315	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTCCATACCTCGTTGATTAAC	0.333																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(943-945)cGa>cAa		SHC (Src homology 2 domain containing) family, member 4							121.0	120.0	121.0					15																	49160017		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49160017C>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.944G>A	15.37:g.49160017C>T	ENSP00000329668:p.Arg315Gln					SHC4_ENST00000537958.1_Missense_Mutation_p.R29Q|SHC4_ENST00000396535.3_Missense_Mutation_p.R72Q	p.R315Q	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	6	1372	-		all_lung(180;0.00466)	315			PID.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.944G>A	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363545	0.95877	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.14766	2.48;2.48;2.48	5.37	5.37	0.77165	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000013	T	0.48021	0.1477	M	0.90483	3.12	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.56444	-0.7978	10	0.87932	D	0	-17.7377	19.3137	0.94202	0.0:1.0:0.0:0.0	.	72;315	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	Q	315;72;29	ENSP00000329668:R315Q;ENSP00000379786:R72Q;ENSP00000443300:R29Q	ENSP00000329668:R315Q	R	-	2	0	SHC4	46947309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.483000	0.73617	2.788000	0.95919	0.650000	0.86243	CGA		0.333	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		9	58	0	0	0	1	0	9	58				
HIVEP2	3097	broad.mit.edu	37	6	143095507	143095507	+	Silent	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:143095507C>A	ENST00000367604.1	-	4	1008	c.369G>T	c.(367-369)ccG>ccT	p.P123P	HIVEP2_ENST00000012134.2_Silent_p.P123P|HIVEP2_ENST00000367603.2_Silent_p.P123P			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGAAAAGCCACGGAGGACCTT	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(367-369)ccG>ccT		human immunodeficiency virus type I enhancer binding protein 2							117.0	127.0	123.0					6																	143095507		2065	4201	6266	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143095507C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.369G>T	6.37:g.143095507C>A						HIVEP2_ENST00000012134.2_Silent_p.P123P|HIVEP2_ENST00000367604.1_Silent_p.P123P	p.P123P	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	1111	-			123					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.369G>T	CCDS43510.1																																																																																				0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			29	88	1	0	2.61193e-14	1	2.97683e-14	29	88				
MT-CO3	4514	broad.mit.edu	37	M	9535	9535	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chrM:9535C>T	ENST00000362079.2	+	1	329	c.329C>T	c.(328-330)cCc>cTc	p.P110L	MT-ND4L_ENST00000361335.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	110					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						AGCCCCTACCCCCCAACTAGG	0.493																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(328-330)cCc>cTc		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9535C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.329C>T	M.37:g.9535C>T	ENSP00000354982:p.Pro110Leu						p.110_110insL							1	329	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.329C>T																																																																																					0.493	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		15	78	0	0	0	1	0	15	78				
GLP2R	9340	broad.mit.edu	37	17	9774131	9774131	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:9774131G>T	ENST00000262441.5	+	10	1637	c.1124G>T	c.(1123-1125)tGc>tTc	p.C375F	GLP2R_ENST00000574745.1_Missense_Mutation_p.C195F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	375					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)	CATCAAATGTGCTTCAGAGAT	0.413																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1123-1125)tGc>tTc		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						140.0	150.0	147.0					17																	9774131		2203	4299	6502	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9774131G>T	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.1124G>T	17.37:g.9774131G>T	ENSP00000262441:p.Cys375Phe					GLP2R_ENST00000574745.1_Missense_Mutation_p.C195F	p.C375F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			10	1637	+			375					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1124G>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	9.286	1.049489	0.19827	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.42900	0.96	6.17	5.17	0.71159	GPCR, family 2-like (1);	0.171277	0.28515	N	0.015066	T	0.52948	0.1766	M	0.68317	2.08	0.31528	N	0.661539	P	0.51147	0.942	P	0.57425	0.82	T	0.57585	-0.7786	10	0.34782	T	0.22	.	8.9705	0.35903	0.0777:0.1498:0.7726:0.0	.	375	O95838	GLP2R_HUMAN	F	375	ENSP00000262441:C375F	ENSP00000262441:C375F	C	+	2	0	GLP2R	9714856	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	2.974000	0.49272	2.941000	0.99782	0.655000	0.94253	TGC		0.413	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			45	164	1	0	3.05275e-18	1	3.55771e-18	45	164				
PRSS35	167681	broad.mit.edu	37	6	84233607	84233607	+	Silent	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:84233607G>A	ENST00000369700.3	+	2	624	c.447G>A	c.(445-447)aaG>aaA	p.K149K	PRSS35_ENST00000536636.1_Silent_p.K149K	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	149	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CAGCTGTGAAGCTTTCCACGG	0.463																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(445-447)aaG>aaA		protease, serine, 35							101.0	100.0	100.0					6																	84233607		2203	4300	6503	SO:0001819	synonymous_variant	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233607G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.447G>A	6.37:g.84233607G>A						PRSS35_ENST00000369700.3_Silent_p.K149K	p.K149K	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	792	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	149			Peptidase S1.		A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	c.447G>A	CCDS4999.1																																																																																				0.463	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		19	72	0	0	0	1	0	19	72				
ASCC3	10973	broad.mit.edu	37	6	101073102	101073102	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:101073102T>C	ENST00000369162.2	-	30	5095	c.4751A>G	c.(4750-4752)gAt>gGt	p.D1584G		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1584	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTGCTTTGGATCTTCTTCAGT	0.378																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4750-4752)gAt>gGt		activating signal cointegrator 1 complex subunit 3							128.0	117.0	121.0					6																	101073102		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101073102T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4751A>G	6.37:g.101073102T>C	ENSP00000358159:p.Asp1584Gly						p.D1584G	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	30	5095	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1584			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4751A>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704258	0.68615	.	.	ENSG00000112249	ENST00000369162	D	0.91351	-2.83	5.96	5.96	0.96718	Helicase, C-terminal (1);	0.155531	0.56097	D	0.000024	D	0.84488	0.5483	L	0.49699	1.58	0.80722	D	1	B	0.28552	0.215	B	0.29353	0.101	D	0.83691	0.0177	10	0.46703	T	0.11	.	16.4221	0.83766	0.0:0.0:0.0:1.0	.	1584	Q8N3C0	HELC1_HUMAN	G	1584	ENSP00000358159:D1584G	ENSP00000358159:D1584G	D	-	2	0	ASCC3	101179823	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.040000	0.89188	2.283000	0.76528	0.477000	0.44152	GAT		0.378	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		5	26	0	0	0	1	0	5	26				
B3GNT3	10331	broad.mit.edu	37	19	17922559	17922559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:17922559G>A	ENST00000318683.6	+	3	894	c.747G>A	c.(745-747)tgG>tgA	p.W249*	B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.W249*	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	249					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGGCTTTTTGGAGCAAGTACT	0.592																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(745-747)tgG>tgA		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							66.0	66.0	66.0					19																	17922559		2203	4300	6503	SO:0001587	stop_gained	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922559G>A	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.747G>A	19.37:g.17922559G>A	ENSP00000321874:p.Trp249*					B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.W249*	p.W249*	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			3	894	+			249					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Nonsense_Mutation	SNP	ENST00000318683.6	37	c.747G>A	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635078	0.67130	.	.	ENSG00000179913	ENST00000318683	.	.	.	5.23	4.12	0.48240	.	0.821279	0.11203	N	0.588632	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	12.9509	0.58401	0.0:0.1644:0.8356:0.0	.	.	.	.	X	249	.	ENSP00000321874:W249X	W	+	3	0	B3GNT3	17783559	0.305000	0.24481	1.000000	0.80357	0.229000	0.25112	0.486000	0.22340	2.452000	0.82932	0.561000	0.74099	TGG		0.592	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		4	62	0	0	0	1	0	4	62				
NLRP7	199713	broad.mit.edu	37	19	55450612	55450612	+	Silent	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:55450612G>A	ENST00000590030.1	-	3	1615	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	NLRP7_ENST00000588756.1_Silent_p.L525L|NLRP7_ENST00000592784.1_Silent_p.L525L|NLRP7_ENST00000446217.1_Silent_p.L553L|NLRP7_ENST00000340844.2_Silent_p.L525L|NLRP7_ENST00000328092.5_Silent_p.L525L|NLRP7_ENST00000448121.2_Silent_p.L525L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	525							ATP binding (GO:0005524)	p.L525L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTCGTTAGCGAGGCCGAATA	0.527																																						ENST00000588756.1																			1	Substitution - coding silent(1)	p.L525L(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1573-1575)ctC>ctT		NLR family, pyrin domain containing 7							79.0	80.0	80.0					19																	55450612		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450612G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1575C>T	19.37:g.55450612G>A						NLRP7_ENST00000592784.1_Silent_p.L525L|NLRP7_ENST00000590030.1_Silent_p.L525L|NLRP7_ENST00000340844.2_Silent_p.L525L|NLRP7_ENST00000328092.5_Silent_p.L525L|NLRP7_ENST00000448121.2_Silent_p.L525L|NLRP7_ENST00000446217.1_Silent_p.L553L	p.L525L			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2061	-			525					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1575C>T	CCDS33109.1																																																																																				0.527	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		13	70	0	0	0	1	0	13	70				
MUC2	4583	broad.mit.edu	37	11	1096359	1096359	+	Silent	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:1096359C>A	ENST00000441003.2	+	34	6411	c.6384C>A	c.(6382-6384)gtC>gtA	p.V2128V	MUC2_ENST00000361558.6_Silent_p.V266V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4490					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCACTATGTCACCTTCGACG	0.642																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6382-6384)gtC>gtA		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						61.0	70.0	67.0					11																	1096359		2175	4275	6450	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1096359C>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6384C>A	11.37:g.1096359C>A						MUC2_ENST00000361558.6_Silent_p.V266V	p.V2128V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	34	6411	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4490					Q14878	Silent	SNP	ENST00000441003.2	37	c.6384C>A																																																																																					0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		11	38	1	0	1.58986e-06	1	1.73541e-06	11	38				
SHROOM3	57619	broad.mit.edu	37	4	77691933	77691933	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr4:77691933G>A	ENST00000296043.6	+	10	6457	c.5504G>A	c.(5503-5505)aGg>aAg	p.R1835K	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1835	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GACAAGTATAGGATGTTCATA	0.552																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5503-5505)aGg>aAg		shroom family member 3							156.0	155.0	155.0					4																	77691933		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77691933G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5504G>A	4.37:g.77691933G>A	ENSP00000296043:p.Arg1835Lys					RP11-359D14.3_ENST00000449007.1_RNA	p.R1835K	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		10	6457	+			1835			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5504G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	4.941	0.174912	0.09391	.	.	ENSG00000138771	ENST00000296043	T	0.34667	1.35	5.53	1.92	0.25849	Apx/shroom, ASD2 (2);	0.141968	0.48767	N	0.000178	T	0.13798	0.0334	N	0.05031	-0.125	0.26480	N	0.975125	B	0.09022	0.002	B	0.08055	0.003	T	0.34104	-0.9842	10	0.02654	T	1	-17.761	9.7005	0.40184	0.835:0.0:0.165:0.0	.	1835	Q8TF72	SHRM3_HUMAN	K	1835	ENSP00000296043:R1835K	ENSP00000296043:R1835K	R	+	2	0	SHROOM3	77910957	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.932000	0.48940	0.193000	0.20303	-0.142000	0.14014	AGG		0.552	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		22	81	0	0	0	1	0	22	81				
EPHA8	2046	broad.mit.edu	37	1	22915727	22915727	+	Intron	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:22915727G>A	ENST00000166244.3	+	5	1387				EPHA8_ENST00000374644.4_Missense_Mutation_p.R448H|EPHA8_ENST00000538803.1_Missense_Mutation_p.R448H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTCCCGCAGCGTCCTGGTCCC	0.672																																						ENST00000374644.4																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1342-1344)cGt>cAt		EPH receptor A8							34.0	35.0	35.0					1																	22915727		2202	4300	6502	SO:0001627	intron_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22915727G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1315+28G>A	1.37:g.22915727G>A						EPHA8_ENST00000538803.1_Missense_Mutation_p.R448H|EPHA8_ENST00000166244.3_Intron	p.R448H	NM_001006943.1	NP_001006944.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	1415	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	0			Fibronectin type-III 2.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.1343G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	8.966	0.971877	0.18736	.	.	ENSG00000070886	ENST00000374644;ENST00000538803	T;T	0.01359	4.98;4.98	2.6	-2.91	0.05631	.	.	.	.	.	T	0.00724	0.0024	.	.	.	0.09310	N	1	P	0.44044	0.825	B	0.31614	0.133	T	0.46596	-0.9180	7	.	.	.	.	1.538	0.02549	0.1605:0.1078:0.3334:0.3982	.	448	P29322-2	.	H	448	ENSP00000363775:R448H;ENSP00000440274:R448H	.	R	+	2	0	EPHA8	22788314	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.938000	0.03938	-0.698000	0.05085	-2.724000	0.00131	CGT		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		11	41	0	0	0	1	0	11	41				
PCDH10	57575	broad.mit.edu	37	4	134073649	134073649	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr4:134073649C>T	ENST00000264360.5	+	1	3180	c.2354C>T	c.(2353-2355)tCa>tTa	p.S785L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	785					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCAGCAAGTCAGACATCATG	0.627																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2353-2355)tCa>tTa		protocadherin 10							42.0	41.0	41.0					4																	134073649		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073649C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2354C>T	4.37:g.134073649C>T	ENSP00000264360:p.Ser785Leu						p.S785L	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3180	+			785					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2354C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471421	0.84533	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53857	0.6	5.01	5.01	0.66863	.	0.000000	0.39615	N	0.001319	T	0.64227	0.2579	L	0.36672	1.1	0.80722	D	1	D;B	0.63880	0.993;0.008	D;B	0.72338	0.977;0.008	T	0.66716	-0.5853	10	0.59425	D	0.04	.	17.0997	0.86645	0.0:1.0:0.0:0.0	.	785;785	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	785	ENSP00000264360:S785L	ENSP00000264360:S785L	S	+	2	0	PCDH10	134293099	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.322000	0.78497	0.561000	0.74099	TCA		0.627	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	26	0	0	0	1	0	10	26				
WDR44	54521	broad.mit.edu	37	X	117527030	117527030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chrX:117527030G>T	ENST00000254029.3	+	4	1017	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Nonsense_Mutation_p.E208*|WDR44_ENST00000371822.5_Nonsense_Mutation_p.E183*	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	208						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CGCTGTGGAAGAAGTGGCCCC	0.493																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(622-624)Gaa>Taa		WD repeat domain 44							143.0	125.0	131.0					X																	117527030		2203	4300	6503	SO:0001587	stop_gained	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527030G>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.622G>T	X.37:g.117527030G>T	ENSP00000254029:p.Glu208*					WDR44_ENST00000371825.3_Nonsense_Mutation_p.E208*|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Nonsense_Mutation_p.E183*	p.E208*	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			4	1017	+			208					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Nonsense_Mutation	SNP	ENST00000254029.3	37	c.622G>T	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	7.971487|7.971487	0.98588|0.98588	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.370264|.	0.29692|.	N|.	0.011453|.	.|T	.|0.65913	.|0.2737	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70350	.|-0.4896	.|3	0.32370|.	T|.	0.25|.	-19.0595|-19.0595	14.3647|14.3647	0.66799|0.66799	0.0:0.1436:0.8564:0.0|0.0:0.1436:0.8564:0.0	.|.	.|.	.|.	.|.	X|I	183;208;208|107	.|.	ENSP00000254029:E208X|.	E|R	+|+	1|2	0|0	WDR44|WDR44	117411058|117411058	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.785000|0.785000	0.44390|0.44390	5.174000|5.174000	0.65015|0.65015	2.383000|2.383000	0.81215|0.81215	0.600000|0.600000	0.82982|0.82982	GAA|AGA		0.493	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		4	64	1	0	0.00024832	1	0.000256597	4	64				
VCAN	1462	broad.mit.edu	37	5	82835881	82835881	+	Silent	SNP	G	G	A	rs148008263		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr5:82835881G>A	ENST00000265077.3	+	8	7624	c.7059G>A	c.(7057-7059)acG>acA	p.T2353T	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.T1366T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2353	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTTTCTCCACGGACATCGGAC	0.448																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(7057-7059)acG>acA		versican		G	,,,	1,4405	2.1+/-5.4	0,1,2202	77.0	74.0	75.0		,4098,,7059	1.1	0.0	5	dbSNP_134	75	0,8600		0,0,4300	no	intron,coding-synonymous,intron,coding-synonymous	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	,1366/2410,,2353/3397	82835881	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835881G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7059G>A	5.37:g.82835881G>A						VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.T1366T|VCAN_ENST00000512590.2_Intron	p.T2353T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7624	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2353			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.7059G>A	CCDS4060.1																																																																																				0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		5	41	0	0	0	1	0	5	41				
MT-CO3	4514	broad.mit.edu	37	M	9548	9548	+	Silent	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chrM:9548G>A	ENST00000362079.2	+	1	342	c.342G>A	c.(340-342)ggG>ggA	p.G114G	MT-ND4L_ENST00000361335.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	114					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CAACTAGGAGGGCACTGGCCC	0.493																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(340-342)ggG>ggA		mitochondrially encoded cytochrome c oxidase III																																				SO:0001819	synonymous_variant	4514							g.chrM:9548G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.342G>A	M.37:g.9548G>A							p.114_114insG							1	342	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.342G>A																																																																																					0.493	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		7	74	0	0	0	1	0	7	74				
TSPAN1	10103	broad.mit.edu	37	1	46650727	46650727	+	Silent	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:46650727C>T	ENST00000372003.1	+	7	998	c.534C>T	c.(532-534)aaC>aaT	p.N178N	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	178					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GCAATGACAACGTCACCAACA	0.502																																						ENST00000372003.1																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(532-534)aaC>aaT		tetraspanin 1							125.0	126.0	125.0					1																	46650727		2203	4300	6503	SO:0001819	synonymous_variant	10103					integral to membrane|lysosomal membrane		g.chr1:46650727C>T	BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.534C>T	1.37:g.46650727C>T						TSPAN1_ENST00000498443.1_3'UTR	p.N178N	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN			7	998	+	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)	178					D3DQ14|O60745|Q5VST0	Silent	SNP	ENST00000372003.1	37	c.534C>T	CCDS530.1																																																																																				0.502	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1	NM_005727		17	82	0	0	0	1	0	17	82				
RECQL	5965	broad.mit.edu	37	12	21624400	21624400	+	Silent	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:21624400C>T	ENST00000444129.2	-	13	2097	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	RECQL_ENST00000421138.2_Silent_p.E543E	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	543					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CAATAATCTTCTCCAGATCTT	0.378								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1627-1629)gaG>gaA	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							102.0	93.0	96.0					12																	21624400		2203	4300	6503	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21624400C>T	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1629G>A	12.37:g.21624400C>T						RECQL_ENST00000421138.2_Silent_p.E543E	p.E543E	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			13	2097	-			543					A8K6G2	Silent	SNP	ENST00000444129.2	37	c.1629G>A	CCDS31756.1																																																																																				0.378	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		13	49	0	0	0	1	0	13	49				
PPFIA2	8499	broad.mit.edu	37	12	81778024	81778024	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:81778024C>A	ENST00000549396.1	-	9	923		c.e9-1		PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000545296.2_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGGACAAACGCTGCAGAAATA	0.308																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.e8-1		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							28.0	25.0	26.0					12																	81778024		1801	4073	5874	SO:0001630	splice_region_variant	8499							g.chr12:81778024C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.763-1G>T	12.37:g.81778024C>A						PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000545296.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Splice_Site		NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			8	1058	-								B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Splice_Site	SNP	ENST00000549396.1	37		CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197150	0.79015	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000548790	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPFIA2	80302155	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.487000	0.81328	2.720000	0.93068	0.557000	0.71058	.		0.308	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Intron	4	17	1	0	0.00024832	1	0.000256597	4	17				
FNIP2	57600	broad.mit.edu	37	4	159789958	159789958	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr4:159789958T>G	ENST00000264433.6	+	13	2245	c.2170T>G	c.(2170-2172)Ttt>Gtt	p.F724V	FNIP2_ENST00000379346.3_Missense_Mutation_p.F747V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	724	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GATTGGAAGCTTTGCATCTCC	0.542																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2170-2172)Ttt>Gtt		folliculin interacting protein 2							64.0	68.0	67.0					4																	159789958		1883	4109	5992	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159789958T>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2170T>G	4.37:g.159789958T>G	ENSP00000264433:p.Phe724Val					FNIP2_ENST00000379346.3_Missense_Mutation_p.F747V	p.F724V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2245	+	all_hematologic(180;0.24)		724			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.2170T>G	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304276	0.40795	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.21361	2.01;2.01	5.51	5.51	0.81932	.	0.116963	0.64402	D	0.000015	T	0.11922	0.0290	N	0.08118	0	0.25761	N	0.984944	B	0.06786	0.001	B	0.01281	0.0	T	0.16808	-1.0390	9	.	.	.	.	15.9154	0.79512	0.0:0.0:0.0:1.0	.	724	Q9P278	FNIP2_HUMAN	V	724;747	ENSP00000264433:F724V;ENSP00000368651:F747V	.	F	+	1	0	FNIP2	160009408	1.000000	0.71417	0.970000	0.41538	0.030000	0.12068	5.570000	0.67398	2.216000	0.71823	0.533000	0.62120	TTT		0.542	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		22	59	0	0	0	1	0	22	59				
KCNE2	9992	broad.mit.edu	37	21	35742922	35742922	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr21:35742922G>A	ENST00000290310.3	+	2	285	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	49					aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						CTTCTACTATGTCATCCTGTA	0.458																																						ENST00000290310.2																			0				endometrium(1)|large_intestine(1)	2						c.(145-147)Gtc>Atc		potassium voltage-gated channel, Isk-related family, member 2							160.0	148.0	152.0					21																	35742922		2203	4300	6503	SO:0001583	missense	9992				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr21:35742922G>A	AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"""Potassium channels"""	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.145G>A	21.37:g.35742922G>A	ENSP00000290310:p.Val49Ile						p.V49I	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN			2	285	+			49					A5H1P3|D3DSF8|Q52LJ5	Missense_Mutation	SNP	ENST00000290310.3	37	c.145G>A	CCDS13635.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917186	0.92249	.	.	ENSG00000159197	ENST00000290310	D	0.92149	-2.98	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	D	0.95207	0.8446	L	0.54323	1.7	0.44908	D	0.997922	D	0.76494	0.999	D	0.85130	0.997	D	0.95379	0.8471	10	0.72032	D	0.01	-15.2392	19.0527	0.93052	0.0:0.0:1.0:0.0	.	49	Q9Y6J6	KCNE2_HUMAN	I	49	ENSP00000290310:V49I	ENSP00000290310:V49I	V	+	1	0	KCNE2	34664792	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	8.380000	0.90149	2.588000	0.87417	0.561000	0.74099	GTC		0.458	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2			16	70	0	0	0	1	0	16	70				
MUC6	4588	broad.mit.edu	37	11	1016922	1016922	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:1016922C>G	ENST00000421673.2	-	31	5929	c.5879G>C	c.(5878-5880)aGc>aCc	p.S1960T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1960	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTAGCCTGCTGCTGCTGGC	0.582																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5878-5880)aGc>aCc		mucin 6, oligomeric mucus/gel-forming							648.0	671.0	663.0					11																	1016922		2203	4296	6499	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016922C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5879G>C	11.37:g.1016922C>G	ENSP00000406861:p.Ser1960Thr						p.S1960T	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5929	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1960			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5879G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	7.850	0.723708	0.15439	.	.	ENSG00000184956	ENST00000421673	T	0.28666	1.6	2.77	-1.37	0.09056	.	.	.	.	.	T	0.22437	0.0541	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.30357	-0.9981	9	0.22109	T	0.4	.	7.3494	0.26682	0.0:0.3577:0.5246:0.1177	.	1960	Q6W4X9	MUC6_HUMAN	T	1960	ENSP00000406861:S1960T	ENSP00000406861:S1960T	S	-	2	0	MUC6	1006922	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-2.492000	0.00973	-0.449000	0.07117	0.313000	0.20887	AGC		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		6	954	0	0	0	1	0	6	954				
MGRN1	23295	broad.mit.edu	37	16	4723654	4723654	+	Silent	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr16:4723654G>A	ENST00000399577.5	+	10	1044	c.951G>A	c.(949-951)cgG>cgA	p.R317R	MGRN1_ENST00000586183.1_Silent_p.R317R|MGRN1_ENST00000415496.1_Silent_p.R318R|MGRN1_ENST00000262370.7_Silent_p.R317R|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000588994.1_Silent_p.R317R	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	317					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CCATCTGCCGGCTGCGTGAGT	0.652																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(949-951)cgG>cgA		mahogunin ring finger 1, E3 ubiquitin protein ligase							42.0	49.0	47.0					16																	4723654		2197	4300	6497	SO:0001819	synonymous_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4723654G>A	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.951G>A	16.37:g.4723654G>A						MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000415496.1_Silent_p.R318R|MGRN1_ENST00000586183.1_Silent_p.R317R|MGRN1_ENST00000262370.7_Silent_p.R317R|MGRN1_ENST00000588994.1_Silent_p.R317R	p.R317R	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			10	1044	+			317					A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	c.951G>A	CCDS45402.1																																																																																				0.652	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			16	44	0	0	0	1	0	16	44				
PILRB	29990	broad.mit.edu	37	7	99964984	99964984	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr7:99964984C>T	ENST00000452089.1	+	9	1727	c.668C>T	c.(667-669)cCa>cTa	p.P223L	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Missense_Mutation_p.P223L|PILRB_ENST00000448382.1_3'UTR|PILRB_ENST00000609309.1_Missense_Mutation_p.P223L|PILRB_ENST00000444073.1_Missense_Mutation_p.P223L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	223					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					agcagggcgccaagcagtgac	0.542																																						ENST00000310771.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(667-669)cCa>cTa		paired immunoglobin-like type 2 receptor beta							75.0	79.0	77.0					7																	99964984		2056	4204	6260	SO:0001583	missense	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99964984C>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.668C>T	7.37:g.99964984C>T	ENSP00000391748:p.Pro223Leu					PILRB_ENST00000452089.1_Missense_Mutation_p.P223L|PILRB_ENST00000444874.1_3'UTR|PILRB_ENST00000448382.1_3'UTR|PILRB_ENST00000444073.1_Missense_Mutation_p.P223L	p.P223L			Q9UKJ0	PILRB_HUMAN			18	3164	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		223					Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.668C>T	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	5.896	0.349509	0.11182	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000444073;ENST00000413850	T;T;T	0.24151	1.87;1.87;1.87	0.555	0.555	0.17247	.	0.213952	0.23748	N	0.044944	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.10268	-1.0637	8	.	.	.	.	.	.	.	.	223	Q9UKJ0	PILRB_HUMAN	L	223;223;223;223;328	ENSP00000311153:P223L;ENSP00000391748:P223L;ENSP00000410764:P223L	.	P	+	2	0	PILRB	99802920	0.009000	0.17119	0.003000	0.11579	0.007000	0.05969	0.448000	0.21726	0.545000	0.28902	0.407000	0.27541	CCA		0.542	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		14	58	0	0	0	1	0	14	58				
MT-CO1	4512	broad.mit.edu	37	M	6138	6138	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chrM:6138G>A	ENST00000361624.2	+	1	235	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	79					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCGGAGGCTTTGGCAACTGAC	0.458																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(235-237)Ggc>Agc		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6138G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.235G>A	M.37:g.6138G>A	ENSP00000354499:p.Gly79Ser						p.79_79insS							1	235	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.235G>A																																																																																					0.458	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		40	16	0	0	0	1	0	40	16				
RBPMS	11030	broad.mit.edu	37	8	30402090	30402090	+	Silent	SNP	G	G	A	rs146741990		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:30402090G>A	ENST00000320203.4	+	6	1059	c.477G>A	c.(475-477)gcG>gcA	p.A159A	RBPMS_ENST00000287771.5_Silent_p.A159A|RBPMS_ENST00000339877.4_Silent_p.A159A|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000520161.1_Silent_p.A55A|RBPMS_ENST00000519647.1_Silent_p.A55A|RBPMS_ENST00000397323.4_Silent_p.A159A|RBPMS_ENST00000517860.1_Silent_p.A159A|RBPMS_ENST00000520191.1_Silent_p.A55A	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	159					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CGGAGTTAGCGCCTGCTCTAC	0.557																																						ENST00000320203.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(475-477)gcG>gcA		RNA binding protein with multiple splicing		G	,,,	0,4406		0,0,2203	191.0	172.0	178.0		477,477,477,477	6.0	1.0	8	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RBPMS	NM_001008710.1,NM_001008711.1,NM_001008712.1,NM_006867.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	159/197,159/205,159/220,159/197	30402090	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30402090G>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.477G>A	8.37:g.30402090G>A						RBPMS_ENST00000397323.4_Silent_p.A159A|RBPMS_ENST00000520161.1_Silent_p.A55A|RBPMS_ENST00000519647.1_Silent_p.A55A|RBPMS_ENST00000517860.1_Silent_p.A159A|RBPMS_ENST00000339877.4_Silent_p.A159A|RBPMS_ENST00000287771.5_Silent_p.A159A|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000520191.1_Silent_p.A55A	p.A159A	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	6	1059	+			159					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.477G>A	CCDS6077.1																																																																																				0.557	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			19	60	0	0	0	1	0	19	60				
NODAL	4838	broad.mit.edu	37	10	72195488	72195488	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr10:72195488C>T	ENST00000287139.3	-	2	444	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	AC022532.1_ENST00000420338.2_Silent_p.A145A	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	149					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						ACCATGCTGCCCAAGGAAAAG	0.577																																						ENST00000287139.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						c.(445-447)Ggc>Agc		nodal growth differentiation factor							62.0	55.0	57.0					10																	72195488		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72195488C>T	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.445G>A	10.37:g.72195488C>T	ENSP00000287139:p.Gly149Ser					AC022532.1_ENST00000420338.2_Silent_p.A145A	p.G149S	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN			2	444	-			149					Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.445G>A	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	C	4.990	0.183906	0.09495	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	T;T	0.67698	-0.28;-0.28	5.46	3.62	0.41486	Transforming growth factor-beta, N-terminal (1);	0.440036	0.29286	N	0.012586	T	0.54447	0.1859	L	0.38175	1.15	0.09310	N	0.999999	P	0.35793	0.521	B	0.38378	0.272	T	0.39583	-0.9607	10	0.16896	T	0.51	.	10.8592	0.46817	0.0:0.8466:0.0:0.1534	.	149	Q96S42	NODAL_HUMAN	S	149;94	ENSP00000287139:G149S;ENSP00000394468:G94S	ENSP00000287139:G149S	G	-	1	0	NODAL	71865494	0.806000	0.28996	0.371000	0.25978	0.321000	0.28281	1.660000	0.37397	0.870000	0.35726	0.655000	0.94253	GGC		0.577	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		6	47	0	0	0	1	0	6	47				
UBQLNL	143630	broad.mit.edu	37	11	5537120	5537120	+	Silent	SNP	A	A	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:5537120A>T	ENST00000380184.1	-	1	815	c.552T>A	c.(550-552)ctT>ctA	p.L184L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	184										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGTTGGACAGAAGCCGCTGGA	0.488																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(550-552)ctT>ctA		ubiquilin-like							116.0	115.0	116.0					11																	5537120		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5537120A>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.552T>A	11.37:g.5537120A>T						HBG2_ENST00000380259.2_Intron	p.L184L	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	815	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	184					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.552T>A	CCDS31385.1																																																																																				0.488	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		45	125	0	0	0	1	0	45	125				
RBL1	5933	broad.mit.edu	37	20	35696405	35696405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr20:35696405G>A	ENST00000373664.3	-	3	541	c.475C>T	c.(475-477)Cga>Tga	p.R159*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.R159*	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	159					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCCGGCTTCGTGGTAACTTT	0.299																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(475-477)Cga>Tga		retinoblastoma-like 1 (p107)							76.0	83.0	81.0					20																	35696405		2203	4300	6503	SO:0001587	stop_gained	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35696405G>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.475C>T	20.37:g.35696405G>A	ENSP00000362768:p.Arg159*					RBL1_ENST00000344359.3_Nonsense_Mutation_p.R159*	p.R159*	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			3	541	-		Myeloproliferative disorder(115;0.00878)	159					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Nonsense_Mutation	SNP	ENST00000373664.3	37	c.475C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194322	0.94960	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6803	12.785	0.57500	0.0:0.0:0.7194:0.2806	.	.	.	.	X	159	.	ENSP00000343646:R159X	R	-	1	2	RBL1	35129819	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.693000	0.47027	2.744000	0.94065	0.543000	0.68304	CGA		0.299	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		10	45	0	0	0	1	0	10	45				
TAGAP	117289	broad.mit.edu	37	6	159464620	159464620	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:159464620C>A	ENST00000367066.3	-	4	480		c.e4+1		TAGAP_ENST00000338313.5_Splice_Site|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Splice_Site|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTAAAACTCACCAATGAGCTG	0.363																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.e4+1		T-cell activation RhoGTPase activating protein							184.0	191.0	188.0					6																	159464620		2203	4300	6503	SO:0001630	splice_region_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159464620C>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.148+1G>T	6.37:g.159464620C>A						RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Splice_Site|TAGAP_ENST00000326965.6_Splice_Site		NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	4	480	-		Breast(66;0.000776)|Ovarian(120;0.0303)						Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Splice_Site	SNP	ENST00000367066.3	37		CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894443	0.72639	.	.	ENSG00000164691	ENST00000367066;ENST00000338313	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4995	0.84253	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAGAP	159384608	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.069000	0.64370	2.675000	0.91044	0.655000	0.94253	.		0.363	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	Intron	41	125	1	0	9.58827e-17	1	1.10909e-16	41	125				
CSPG4	1464	broad.mit.edu	37	15	75968110	75968110	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr15:75968110G>C	ENST00000308508.5	-	10	6842	c.6750C>G	c.(6748-6750)aaC>aaG	p.N2250K	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2250					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCCCGTCTTGTTGCGTTTTC	0.607																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(6748-6750)aaC>aaG		chondroitin sulfate proteoglycan 4							110.0	98.0	102.0					15																	75968110		2197	4294	6491	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968110G>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6750C>G	15.37:g.75968110G>C	ENSP00000312506:p.Asn2250Lys						p.N2250K	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			10	6842	-			2250					D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.6750C>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022262	0.35701	.	.	ENSG00000173546	ENST00000308508;ENST00000537176	T	0.18810	2.19	4.85	1.92	0.25849	.	0.077916	0.52532	D	0.000070	T	0.19087	0.0458	L	0.39245	1.2	0.50467	D	0.999877	D	0.62365	0.991	P	0.50192	0.634	T	0.03651	-1.1016	10	0.34782	T	0.22	.	4.6519	0.12599	0.2447:0.0:0.6029:0.1523	.	2250	Q6UVK1	CSPG4_HUMAN	K	2250;282	ENSP00000312506:N2250K	ENSP00000312506:N2250K	N	-	3	2	CSPG4	73755165	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.268000	0.58883	0.589000	0.29677	-0.122000	0.15005	AAC		0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		22	82	0	0	0	1	0	22	82				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			220729							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	86	0	0	0	1	0	5	86				
SCNN1A	6337	broad.mit.edu	37	12	6483990	6483990	+	5'UTR	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:6483990T>C	ENST00000228916.2	-	0	58				SCNN1A_ENST00000396966.2_5'Flank|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E46G|SCNN1A_ENST00000358945.3_5'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E10G|SCNN1A_ENST00000538979.1_Intron|LTBR_ENST00000539925.1_5'Flank	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit						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)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GTCCTGCTCCTCCAGCTTGTT	0.627																																						ENST00000360168.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(136-138)gAg>gGg		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						40.0	42.0	41.0					12																	6483990		2203	4300	6503	SO:0001623	5_prime_UTR_variant	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6483990T>C	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.-41A>G	12.37:g.6483990T>C						SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000358945.3_5'UTR|SCNN1A_ENST00000228916.2_5'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E10G	p.E46G	NM_001159576.1	NP_001153048.1	P37088	SCNNA_HUMAN			1	400	-			0					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.137A>G	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	T	9.001	0.980097	0.18812	.	.	ENSG00000111319	ENST00000360168;ENST00000543768;ENST00000536788	T;T;D	0.86562	-0.85;-0.5;-2.14	2.42	1.22	0.21188	.	4.895910	0.00508	N	0.000168	T	0.76018	0.3929	N	0.08118	0	0.09310	N	0.999998	B;P	0.34934	0.221;0.476	B;B	0.36186	0.077;0.219	T	0.68247	-0.5459	10	0.51188	T	0.08	.	4.2202	0.10554	0.0:0.1795:0.0:0.8205	.	10;46	B4E2Q5;P37088-2	.;.	G	46;10;8	ENSP00000353292:E46G;ENSP00000438739:E10G;ENSP00000443434:E8G	ENSP00000353292:E46G	E	-	2	0	SCNN1A	6354251	0.004000	0.15560	0.001000	0.08648	0.164000	0.22412	-0.015000	0.12634	0.184000	0.20083	0.459000	0.35465	GAG		0.627	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			14	44	0	0	0	1	0	14	44				
PLEC	5339	broad.mit.edu	37	8	144991311	144991311	+	Silent	SNP	C	C	T	rs374458753		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:144991311C>T	ENST00000322810.4	-	32	13258	c.13089G>A	c.(13087-13089)acG>acA	p.T4363T	PLEC_ENST00000436759.2_Silent_p.T4253T|PLEC_ENST00000398774.2_Silent_p.T4194T|PLEC_ENST00000527096.1_Silent_p.T4249T|PLEC_ENST00000354589.3_Silent_p.T4226T|PLEC_ENST00000354958.2_Silent_p.T4204T|PLEC_ENST00000345136.3_Silent_p.T4226T|PLEC_ENST00000357649.2_Silent_p.T4230T|PLEC_ENST00000356346.3_Silent_p.T4212T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4363	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGATGGAGAGCGTGCCGGCGC	0.652																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13087-13089)acG>acA		plectin							48.0	63.0	58.0					8																	144991311		2143	4230	6373	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991311C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13089G>A	8.37:g.144991311C>T						PLEC_ENST00000527096.1_Silent_p.T4249T|PLEC_ENST00000356346.3_Silent_p.T4212T|PLEC_ENST00000398774.2_Silent_p.T4194T|PLEC_ENST00000354958.2_Silent_p.T4204T|PLEC_ENST00000436759.2_Silent_p.T4253T|PLEC_ENST00000357649.2_Silent_p.T4230T|PLEC_ENST00000345136.3_Silent_p.T4226T|PLEC_ENST00000354589.3_Silent_p.T4226T	p.T4363T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13258	-			4363			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.13089G>A	CCDS43772.1																																																																																				0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	102	0	0	0	1	0	5	102				
PSMD5	5711	broad.mit.edu	37	9	123595678	123595678	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr9:123595678G>A	ENST00000210313.3	-	2	304	c.230C>T	c.(229-231)cCg>cTg	p.P77L	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.P77L	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	77					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						CACGTGAACCGGTTCCATAGC	0.453																																						ENST00000210313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						c.(229-231)cCg>cTg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 5							128.0	129.0	129.0					9																	123595678		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123595678G>A	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.230C>T	9.37:g.123595678G>A	ENSP00000210313:p.Pro77Leu					PSMD5_ENST00000373904.5_Missense_Mutation_p.P77L|PSMD5-AS1_ENST00000589026.1_RNA	p.P77L	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN			2	304	-			77					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.230C>T	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900238	0.72754	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.13538	2.58;2.58	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.01966	-1.1238	10	0.13470	T	0.59	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	77;77	B4DZM8;Q16401	.;PSMD5_HUMAN	L	77	ENSP00000210313:P77L;ENSP00000363011:P77L	ENSP00000210313:P77L	P	-	2	0	PSMD5	122635499	1.000000	0.71417	0.996000	0.52242	0.051000	0.14879	8.551000	0.90678	2.885000	0.99019	0.655000	0.94253	CCG		0.453	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		25	64	0	0	0	1	0	25	64				
ADAMTS16	170690	broad.mit.edu	37	5	5239807	5239807	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr5:5239807G>A	ENST00000274181.7	+	16	2430	c.2292G>A	c.(2290-2292)atG>atA	p.M764I		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	764	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTATCACATGGTCACCATTC	0.458																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2290-2292)atG>atA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							162.0	150.0	154.0					5																	5239807		1872	4120	5992	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239807G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2292G>A	5.37:g.5239807G>A	ENSP00000274181:p.Met764Ile						p.M764I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			16	2430	+			764			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2292G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960049	0.34565	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.42513	0.97	5.56	1.02	0.19986	ADAM-TS Spacer 1 (1);	0.450943	0.24126	N	0.041317	T	0.13072	0.0317	N	0.02158	-0.66	0.36367	D	0.86104	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.05852	-1.0860	10	0.27082	T	0.32	.	3.028	0.06097	0.4359:0.0:0.3763:0.1878	.	764;764	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	I	764	ENSP00000274181:M764I	ENSP00000274181:M764I	M	+	3	0	ADAMTS16	5292807	1.000000	0.71417	0.885000	0.34714	0.799000	0.45148	1.252000	0.32874	0.719000	0.32188	-0.136000	0.14681	ATG		0.458	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		34	130	0	0	0	1	0	34	130				
METTL16	79066	broad.mit.edu	37	17	2323740	2323740	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:2323740C>T	ENST00000263092.6	-	10	1340	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	METTL16_ENST00000538844.1_Missense_Mutation_p.A187T|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	405							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TCTTCCAAGGCCTGAATGACG	0.557																																						ENST00000263092.5																			0				kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1213-1215)Gcc>Acc		methyltransferase like 16							90.0	95.0	94.0					17																	2323740		1849	4085	5934	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2323740C>T	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1213G>A	17.37:g.2323740C>T	ENSP00000263092:p.Ala405Thr					METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.A187T	p.A405T	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN			10	1340	-			405					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.1213G>A	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344535	0.41498	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.49720	0.79;0.77	5.95	5.95	0.96441	.	0.229059	0.47852	D	0.000213	T	0.45856	0.1363	L	0.60455	1.87	0.33731	D	0.618194	B	0.25563	0.129	B	0.21546	0.035	T	0.52124	-0.8617	10	0.18276	T	0.48	-14.9051	17.8635	0.88789	0.0:1.0:0.0:0.0	.	405	Q86W50	MET16_HUMAN	T	405;85;187	ENSP00000263092:A405T;ENSP00000443633:A187T	ENSP00000263092:A405T	A	-	1	0	METTL16	2270490	1.000000	0.71417	0.998000	0.56505	0.625000	0.37756	4.916000	0.63362	2.811000	0.96726	0.655000	0.94253	GCC		0.557	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		21	120	0	0	0	1	0	21	120				
AP2A1	160	broad.mit.edu	37	19	50309133	50309133	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:50309133C>G	ENST00000359032.5	+	22	2656	c.2656C>G	c.(2656-2658)Caa>Gaa	p.Q886E	AP2A1_ENST00000354293.5_Missense_Mutation_p.Q864E	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	886					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCCCAGCCCTCAACAGGAGGC	0.652																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(2590-2592)Caa>Gaa		adaptor-related protein complex 2, alpha 1 subunit							59.0	62.0	61.0					19																	50309133		1872	4096	5968	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50309133C>G	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2656C>G	19.37:g.50309133C>G	ENSP00000351926:p.Gln886Glu					AP2A1_ENST00000359032.5_Missense_Mutation_p.Q886E	p.Q864E	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	21	2756	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	886					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.2590C>G	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341742	0.41498	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.16457	2.36;2.34	5.57	2.05	0.26809	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin alpha-adaptin/coatomer adaptor, appendage, C-terminal subdomain (1);Clathrin adaptor, alpha-adaptin, appendage, C-terminal subdomain (1);	0.390460	0.29172	N	0.012935	T	0.12050	0.0293	L	0.48642	1.525	0.35721	D	0.817135	B;B	0.23128	0.08;0.018	B;B	0.17979	0.02;0.011	T	0.13229	-1.0517	10	0.25106	T	0.35	.	4.9076	0.13806	0.1409:0.5075:0.2738:0.0778	.	864;886	O95782-2;O95782	.;AP2A1_HUMAN	E	864;886	ENSP00000346246:Q864E;ENSP00000351926:Q886E	ENSP00000346246:Q864E	Q	+	1	0	AP2A1	55000945	1.000000	0.71417	0.997000	0.53966	0.701000	0.40568	3.959000	0.56744	0.696000	0.31696	0.561000	0.74099	CAA		0.652	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			16	80	0	0	0	1	0	16	80				
MDN1	23195	broad.mit.edu	37	6	90494817	90494817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:90494817G>A	ENST00000369393.3	-	9	1478	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.R455*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	455					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTAGCGGTCGATACCAATTT	0.388																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(1363-1365)Cga>Tga		MDN1, midasin homolog (yeast)							222.0	213.0	216.0					6																	90494817		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90494817G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1363C>T	6.37:g.90494817G>A	ENSP00000358400:p.Arg455*					MDN1_ENST00000428876.1_Nonsense_Mutation_p.R455*	p.R455*			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	9	1478	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	455					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.1363C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	38	7.142101	0.98092	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.56	5.56	0.83823	.	0.068540	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	14.2684	0.66135	0.0:0.0:0.8147:0.1853	.	.	.	.	X	455	.	ENSP00000358400:R455X	R	-	1	2	MDN1	90551538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.805000	0.38883	2.618000	0.88619	0.585000	0.79938	CGA		0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			4	130	0	0	0	1	0	4	130				
CEACAM5	1048	broad.mit.edu	37	19	42218891	42218891	+	Splice_Site	SNP	G	G	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:42218891G>T	ENST00000221992.6	+	3	540	c.426G>T	c.(424-426)ccG>ccT	p.P142P	CEACAM5_ENST00000405816.1_Splice_Site_p.P142P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Splice_Site_p.P142P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	142	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCTGCACAGCGGAGCTGCCCA	0.552																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.e3-1		carcinoembryonic antigen-related cell adhesion molecule 5							119.0	112.0	114.0					19																	42218891		2203	4297	6500	SO:0001630	splice_region_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42218891G>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.425-1G>T	19.37:g.42218891G>T						CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Splice_Site_p.P142_splice|CEACAM5_ENST00000405816.1_Splice_Site_p.P142_splice	p.P142_splice	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	3	540	+			142			Ig-like 1.		H9KVA7	Splice_Site	SNP	ENST00000221992.6	37	c.424_splice	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	2.571	-0.299617	0.05532	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.94	-2.9	0.05648	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1584	0.10272	0.4033:0.1893:0.4074:0.0	.	.	.	.	X	139	.	.	G	+	1	0	CEACAM5	46910731	0.001000	0.12720	0.001000	0.08648	0.135000	0.20990	0.047000	0.14056	-0.427000	0.07350	0.195000	0.17529	GGA		0.552	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	Silent	12	175	1	0	6.40141e-05	1	6.89041e-05	12	175				
VPS45	11311	broad.mit.edu	37	1	150049207	150049207	+	Silent	SNP	A	A	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:150049207A>T	ENST00000369130.3	+	6	1020	c.474A>T	c.(472-474)acA>acT	p.T158T	VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Intron	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	158					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATCTAGAACAACTCAAGGGC	0.383																																						ENST00000369130.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(472-474)acA>acT		vacuolar protein sorting 45 homolog (S. cerevisiae)							89.0	86.0	87.0					1																	150049207		2203	4300	6503	SO:0001819	synonymous_variant	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150049207A>T	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.474A>T	1.37:g.150049207A>T						VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Intron	p.T158T	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1020	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		158					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	ENST00000369130.3	37	c.474A>T	CCDS944.1																																																																																				0.383	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		12	58	0	0	0	1	0	12	58				
LRRTM3	347731	broad.mit.edu	37	10	68686951	68686951	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr10:68686951G>C	ENST00000361320.4	+	2	855	c.277G>C	c.(277-279)Gac>Cac	p.D93H	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	93					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D93H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCTATACCTTGACCATAACCA	0.373																																						ENST00000361320.4																			2	Substitution - Missense(2)	p.D93H(2)	lung(2)	breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(277-279)Gac>Cac		leucine rich repeat transmembrane neuronal 3							103.0	107.0	106.0					10																	68686951		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686951G>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.277G>C	10.37:g.68686951G>C	ENSP00000355187:p.Asp93His					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	p.D93H	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	855	+			93					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.277G>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047242	0.55110	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57273	0.41	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	T	0.53206	0.1782	N	0.04245	-0.25	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.983;1.0	T	0.63888	-0.6535	10	0.45353	T	0.12	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	93;93	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	93	ENSP00000355187:D93H	ENSP00000355187:D93H	D	+	1	0	LRRTM3	68356957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.543000	0.85770	0.655000	0.94253	GAC		0.373	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		28	97	0	0	0	1	0	28	97				
COL14A1	7373	broad.mit.edu	37	8	121228647	121228647	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:121228647G>A	ENST00000297848.3	+	14	1925	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	COL14A1_ENST00000247781.3_Missense_Mutation_p.R457Q|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R552Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGTGCTCGATTAACCTGG	0.378																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1654-1656)cGa>cAa		collagen, type XIV, alpha 1							121.0	111.0	114.0					8																	121228647		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121228647G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1655G>A	8.37:g.121228647G>A	ENSP00000297848:p.Arg552Gln					COL14A1_ENST00000247781.3_Missense_Mutation_p.R457Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R552Q	p.R552Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		14	1925	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		552			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1655G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568039	0.28003	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.29	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.324825	0.28077	N	0.016700	T	0.33904	0.0879	L	0.35644	1.08	0.43913	D	0.996554	P;D	0.53151	0.82;0.958	B;B	0.38655	0.114;0.278	T	0.12811	-1.0533	10	0.27785	T	0.31	.	4.4677	0.11698	0.2157:0.1822:0.6021:0.0	.	552;552	Q05707-2;Q05707	.;COEA1_HUMAN	Q	552;552;457;365	ENSP00000311809:R552Q;ENSP00000297848:R552Q;ENSP00000247781:R457Q;ENSP00000409461:R365Q	ENSP00000247781:R457Q	R	+	2	0	COL14A1	121297828	0.994000	0.37717	0.781000	0.31783	0.322000	0.28314	2.398000	0.44486	1.474000	0.48178	0.655000	0.94253	CGA		0.378	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		9	98	0	0	0	1	0	9	98				
KCNC1	3746	broad.mit.edu	37	11	17793572	17793572	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:17793572C>T	ENST00000379472.3	+	2	961	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R311C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	311					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GGGCTTCCTGCGCGTCGTCCG	0.632																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(931-933)Cgc>Tgc		potassium voltage-gated channel, Shaw-related subfamily, member 1							85.0	75.0	79.0					11																	17793572		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793572C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.931C>T	11.37:g.17793572C>T	ENSP00000368785:p.Arg311Cys					KCNC1_ENST00000265969.6_Missense_Mutation_p.R311C	p.R311C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	961	+			311					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.931C>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657568	0.47467	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.99060	-5.38;-5.38	4.95	3.95	0.45737	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	D	0.97907	1.0306	10	0.87932	D	0	.	15.2123	0.73235	0.1709:0.8291:0.0:0.0	.	311;311	Q3KNS8;P48547	.;KCNC1_HUMAN	C	311	ENSP00000265969:R311C;ENSP00000368785:R311C	ENSP00000265969:R311C	R	+	1	0	KCNC1	17750148	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.919000	0.40015	2.290000	0.77057	0.561000	0.74099	CGC		0.632	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		18	44	0	0	0	1	0	18	44				
ACTL8	81569	broad.mit.edu	37	1	18152993	18152993	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:18152993T>A	ENST00000375406.1	+	3	1296	c.1080T>A	c.(1078-1080)taT>taA	p.Y360*		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	360					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAGAGGAGTATGGTGAGCATA	0.517											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1078-1080)taT>taA		actin-like 8							48.0	52.0	50.0					1																	18152993		2177	4268	6445	SO:0001587	stop_gained	81569					cytoplasm|cytoskeleton		g.chr1:18152993T>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.1080T>A	1.37:g.18152993T>A	ENSP00000364555:p.Tyr360*		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.Y360*	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	1296	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	360					Q13104|Q96M75	Nonsense_Mutation	SNP	ENST00000375406.1	37	c.1080T>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314974	0.81358	.	.	ENSG00000117148	ENST00000375406	.	.	.	5.16	-3.0	0.05480	.	0.000000	0.37809	N	0.001922	.	.	.	.	.	.	0.28537	N	0.912304	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1462	12.9596	0.58451	0.0:0.6257:0.0:0.3743	.	.	.	.	X	360	.	ENSP00000364555:Y360X	Y	+	3	2	ACTL8	18025580	0.219000	0.23619	0.002000	0.10522	0.030000	0.12068	-0.535000	0.06142	-0.784000	0.04528	0.533000	0.62120	TAT		0.517	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		9	35	0	0	0	1	0	9	35				
UNC13C	440279	broad.mit.edu	37	15	54860076	54860076	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr15:54860076G>T	ENST00000260323.11	+	29	6037	c.6037G>T	c.(6037-6039)Gct>Tct	p.A2013S	UNC13C_ENST00000537900.1_Missense_Mutation_p.A2011S|UNC13C_ENST00000545554.1_Missense_Mutation_p.A2013S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2013	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTGAGATATGCTCTCAGTCT	0.368																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(6037-6039)Gct>Tct		unc-13 homolog C (C. elegans)							66.0	63.0	64.0					15																	54860076		1801	4070	5871	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54860076G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6037G>T	15.37:g.54860076G>T	ENSP00000260323:p.Ala2013Ser					UNC13C_ENST00000260323.11_Missense_Mutation_p.A2013S|UNC13C_ENST00000537900.1_Missense_Mutation_p.A2011S	p.A2013S			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	29	6037	+			2013			MHD2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6037G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097925	0.94197	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.75050	-0.9;-0.9;-0.9	5.81	5.81	0.92471	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88555	0.6468	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89042	0.3449	10	0.56958	D	0.05	.	19.0637	0.93101	0.0:0.0:1.0:0.0	.	2013	Q8NB66	UN13C_HUMAN	S	2013;2013;2011	ENSP00000260323:A2013S;ENSP00000438156:A2013S;ENSP00000442569:A2011S	ENSP00000260323:A2013S	A	+	1	0	UNC13C	52647368	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.799000	0.99117	2.749000	0.94314	0.460000	0.39030	GCT		0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	10	1	0	8.12818e-05	1	8.62924e-05	6	10				
NEK5	341676	broad.mit.edu	37	13	52684488	52684488	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr13:52684488C>G	ENST00000355568.4	-	7	594	c.455G>C	c.(454-456)aGa>aCa	p.R152T		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATTCAGGACTCTTGCTATACC	0.308																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(454-456)aGa>aCa		NIMA-related kinase 5							119.0	117.0	117.0					13																	52684488		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52684488C>G	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.455G>C	13.37:g.52684488C>G	ENSP00000347767:p.Arg152Thr						p.R152T	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	7	594	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	152			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.455G>C	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939965	0.73557	.	.	ENSG00000197168	ENST00000355568	T	0.27104	1.69	5.07	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.255089	0.32884	N	0.005535	T	0.38852	0.1056	L	0.35854	1.095	0.48452	D	0.999652	D	0.89917	1.0	D	0.97110	1.0	T	0.06356	-1.0831	10	0.32370	T	0.25	.	13.3139	0.60397	0.0:0.9232:0.0:0.0768	.	152	Q6P3R8	NEK5_HUMAN	T	152	ENSP00000347767:R152T	ENSP00000347767:R152T	R	-	2	0	NEK5	51582489	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.566000	0.60843	1.144000	0.42321	0.467000	0.42956	AGA		0.308	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		6	46	0	0	0	1	0	6	46				
ZNF639	51193	broad.mit.edu	37	3	179052196	179052196	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr3:179052196C>T	ENST00000326361.3	+	7	1889	c.1444C>T	c.(1444-1446)Cat>Tat	p.H482Y	ZNF639_ENST00000496856.1_Missense_Mutation_p.H482Y|ZNF639_ENST00000484866.1_Missense_Mutation_p.H482Y	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	482					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CCTTCCAGTCCATGAGACAAC	0.323																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(1444-1446)Cat>Tat		zinc finger protein 639							48.0	48.0	48.0					3																	179052196		2202	4300	6502	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179052196C>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1444C>T	3.37:g.179052196C>T	ENSP00000325634:p.His482Tyr					ZNF639_ENST00000484866.1_Missense_Mutation_p.H482Y|ZNF639_ENST00000496856.1_Missense_Mutation_p.H482Y	p.H482Y	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1889	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		482					A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.1444C>T	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965492	0.74131	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.03094	4.05;4.05;4.05	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.85373	2.75	0.58432	D	0.999998	D	0.63880	0.993	D	0.70227	0.968	T	0.00104	-1.2058	10	0.87932	D	0	.	20.6647	0.99678	0.0:1.0:0.0:0.0	.	482	Q9UID6	ZN639_HUMAN	Y	482	ENSP00000417740:H482Y;ENSP00000325634:H482Y;ENSP00000418766:H482Y	ENSP00000325634:H482Y	H	+	1	0	ZNF639	180534890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.370000	0.66144	2.890000	0.99128	0.655000	0.94253	CAT		0.323	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		10	55	0	0	0	1	0	10	55				
ACAA2	10449	broad.mit.edu	37	18	47323932	47323932	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr18:47323932A>T	ENST00000285093.10	-	3	691	c.216T>A	c.(214-216)caT>caA	p.H72Q	ACAA2_ENST00000589432.1_Missense_Mutation_p.H17Q|ACAA2_ENST00000587994.1_Missense_Mutation_p.H69Q|RP11-886H22.1_ENST00000590532.2_3'UTR	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	72					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						GCAAACCAACATGCCTTGCCA	0.388																																						ENST00000285093.10																			0				large_intestine(2)|lung(7)|ovary(1)	10						c.(214-216)caT>caA		acetyl-CoA acyltransferase 2							57.0	59.0	58.0					18																	47323932		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47323932A>T	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.216T>A	18.37:g.47323932A>T	ENSP00000285093:p.His72Gln					RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_Missense_Mutation_p.H17Q|ACAA2_ENST00000587994.1_Missense_Mutation_p.H69Q	p.H72Q	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN			3	691	-			72					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.216T>A	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055213	0.36277	.	.	ENSG00000167315	ENST00000285093	D	0.88896	-2.44	5.78	-2.18	0.07037	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	N	0.16567	0.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.79654	-0.1713	10	0.02654	T	1	-23.2864	15.2275	0.73361	0.417:0.0:0.583:0.0	.	72;72	B2RB23;P42765	.;THIM_HUMAN	Q	72	ENSP00000285093:H72Q	ENSP00000285093:H72Q	H	-	3	2	ACAA2	45577930	1.000000	0.71417	0.945000	0.38365	0.343000	0.28985	1.029000	0.30140	-0.645000	0.05458	-0.250000	0.11733	CAT		0.388	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		15	42	0	0	0	1	0	15	42				
UACA	55075	broad.mit.edu	37	15	70959891	70959891	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr15:70959891C>G	ENST00000322954.6	-	16	3317	c.3132G>C	c.(3130-3132)ttG>ttC	p.L1044F	UACA_ENST00000560441.1_Missense_Mutation_p.L1029F|UACA_ENST00000379983.2_Missense_Mutation_p.L1031F|UACA_ENST00000539319.1_Missense_Mutation_p.L935F	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1044					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCTTATCTCTCAAATCTTTCT	0.353																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3130-3132)ttG>ttC		uveal autoantigen with coiled-coil domains and ankyrin repeats							103.0	96.0	98.0					15																	70959891		2198	4298	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959891C>G	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3132G>C	15.37:g.70959891C>G	ENSP00000314556:p.Leu1044Phe					UACA_ENST00000560441.1_Missense_Mutation_p.L1029F|UACA_ENST00000539319.1_Missense_Mutation_p.L935F|UACA_ENST00000379983.2_Missense_Mutation_p.L1031F	p.L1044F	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3317	-			1044					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3132G>C	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183618	0.38609	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.53640	0.63;0.61;1.09	5.82	-3.68	0.04463	.	0.000000	0.49305	D	0.000145	T	0.60104	0.2243	M	0.74881	2.28	0.21020	N	0.999802	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.55885	-0.8070	10	0.72032	D	0.01	-3.971	9.2625	0.37621	0.1122:0.6346:0.1141:0.1391	.	935;1044;1044;1031	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	F	1044;1031;935	ENSP00000314556:L1044F;ENSP00000369319:L1031F;ENSP00000438667:L935F	ENSP00000314556:L1044F	L	-	3	2	UACA	68746945	0.000000	0.05858	0.000000	0.03702	0.820000	0.46376	-1.701000	0.01903	-0.603000	0.05767	-0.367000	0.07326	TTG		0.353	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			29	70	0	0	0	1	0	29	70				
KIAA1257	57501	broad.mit.edu	37	3	128707593	128707593	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr3:128707593A>G	ENST00000265068.5	-	3	598	c.431T>C	c.(430-432)gTa>gCa	p.V144A	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.V144A|KIAA1257_ENST00000515659.1_Missense_Mutation_p.V32A	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	144										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTCCAGGAATACTTTGGCCAC	0.443																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(430-432)gTa>gCa		KIAA1257							81.0	86.0	85.0					3																	128707593		2167	4276	6443	SO:0001583	missense	57501							g.chr3:128707593A>G	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.431T>C	3.37:g.128707593A>G	ENSP00000265068:p.Val144Ala					KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.V32A|KIAA1257_ENST00000511438.1_Missense_Mutation_p.V144A	p.V144A	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			3	598	-			144					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.431T>C	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445004	0.63178	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.67	5.67	0.87782	.	0.520969	0.16118	N	0.228762	T	0.45155	0.1328	N	0.24115	0.695	0.23636	N	0.997235	D;D	0.56035	0.974;0.974	P;P	0.56865	0.808;0.808	T	0.38757	-0.9646	9	0.62326	D	0.03	-9.7758	12.3033	0.54887	1.0:0.0:0.0:0.0	.	144;144	Q9ULG3;D6RH05	K1257_HUMAN;.	A	144;144;32	.	ENSP00000265068:V144A	V	-	2	0	KIAA1257	130190283	0.955000	0.32602	0.996000	0.52242	0.310000	0.27922	5.832000	0.69337	2.163000	0.67991	0.528000	0.53228	GTA		0.443	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		7	44	0	0	0	1	0	7	44				
PCDHB13	56123	broad.mit.edu	37	5	140595705	140595705	+	Silent	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr5:140595705C>T	ENST00000341948.4	+	1	2197	c.2010C>T	c.(2008-2010)taC>taT	p.Y670Y		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGCCCTACCTGCCTCTCC	0.677																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2008-2010)taC>taT									46.0	53.0	51.0					5																	140595705		2120	4150	6270	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595705C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2010C>T	5.37:g.140595705C>T							p.Y670Y	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2197	+			670			Cadherin 6.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.2010C>T	CCDS4255.1																																																																																				0.677	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		40	68	0	0	0	1	0	40	68				
USH2A	7399	broad.mit.edu	37	1	216260136	216260136	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:216260136T>C	ENST00000307340.3	-	24	5298	c.4912A>G	c.(4912-4914)Act>Gct	p.T1638A	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T1638A|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1638	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CCAATAACAGTACTACCATTC	0.418										HNSCC(13;0.011)																												ENST00000366943.2																			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.(4912-4914)Act>Gct		Usher syndrome 2A (autosomal recessive, mild)							63.0	57.0	59.0					1																	216260136		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.chr1:216260136T>C	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.4912A>G	1.37:g.216260136T>C	ENSP00000305941:p.Thr1638Ala	HNSCC(13;0.011)				RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1638A|RP11-22M7.2_ENST00000446411.1_RNA	p.T1638A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	24	5298	-			1638			Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4912A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527654	0.64860	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.80123	-1.34;-1.34	5.06	1.01	0.19927	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.148834	0.30686	N	0.009095	T	0.75583	0.3869	M	0.66297	2.02	0.09310	N	0.999999	B	0.32526	0.374	B	0.34536	0.185	T	0.65590	-0.6131	10	0.44086	T	0.13	.	8.9748	0.35928	0.4507:0.0:0.0:0.5493	.	1638	O75445	USH2A_HUMAN	A	1638	ENSP00000305941:T1638A;ENSP00000355910:T1638A	ENSP00000305941:T1638A	T	-	1	0	USH2A	214326759	0.187000	0.23238	0.001000	0.08648	0.751000	0.42716	0.740000	0.26188	0.216000	0.20781	0.459000	0.35465	ACT		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	43	0	0	0	1	0	22	43				
NRAP	4892	broad.mit.edu	37	10	115365936	115365936	+	Splice_Site	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr10:115365936C>T	ENST00000359988.3	-	33	4052		c.e33+1		NRAP_ENST00000360478.3_Splice_Site|NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000369358.4_Splice_Site	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AAAGGGCTTACGTCACTCAGG	0.473																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.e33+1		nebulin-related anchoring protein							163.0	154.0	157.0					10																	115365936		2203	4300	6503	SO:0001630	splice_region_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115365936C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3807+1G>A	10.37:g.115365936C>T						NRAP_ENST00000360478.3_Splice_Site|NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000369360.3_Splice_Site				Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	33	4076	-		Colorectal(252;0.0233)|Breast(234;0.188)							Splice_Site	SNP	ENST00000359988.3	37		CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875167	0.72180	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.896	0.88888	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRAP	115355926	1.000000	0.71417	0.974000	0.42286	0.658000	0.38924	6.657000	0.74402	2.664000	0.90586	0.655000	0.94253	.		0.473	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	Intron	5	64	0	0	0	1	0	5	64				
UBR4	23352	broad.mit.edu	37	1	19421412	19421412	+	Silent	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr1:19421412C>T	ENST00000375254.3	-	94	13761	c.13734G>A	c.(13732-13734)ctG>ctA	p.L4578L	UBR4_ENST00000375226.2_Silent_p.L4554L|UBR4_ENST00000375224.1_Silent_p.L285L|UBR4_ENST00000375217.2_Silent_p.L4571L|UBR4_ENST00000543981.1_Silent_p.L242L|UBR4_ENST00000429347.2_Intron|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375267.2_Silent_p.L4578L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4578					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTCCTCACTCAGGGGCTCAG	0.557																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(13732-13734)ctG>ctA		ubiquitin protein ligase E3 component n-recognin 4							85.0	77.0	79.0					1																	19421412		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19421412C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13734G>A	1.37:g.19421412C>T						UBR4_ENST00000375226.2_Silent_p.L4554L|UBR4_ENST00000375254.3_Silent_p.L4578L|UBR4_ENST00000375217.2_Silent_p.L4571L|UBR4_ENST00000543981.1_Silent_p.L242L|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000429347.2_Intron|UBR4_ENST00000375224.1_Silent_p.L285L	p.L4578L			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	94	13737	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4578					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.13734G>A	CCDS189.1																																																																																				0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		4	62	0	0	0	1	0	4	62				
FAM167A	83648	broad.mit.edu	37	8	11301803	11301803	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:11301803C>G	ENST00000528897.1	-	2	737	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	FAM167A_ENST00000534308.1_Missense_Mutation_p.E40Q|FAM167A_ENST00000531564.1_5'Flank|FAM167A_ENST00000284486.4_Missense_Mutation_p.E40Q			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	40										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CTGCGGGTCTCCAGCCTCAGT	0.677																																						ENST00000284486.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						c.(118-120)Gag>Cag		family with sequence similarity 167, member A							60.0	69.0	66.0					8																	11301803		2203	4300	6503	SO:0001583	missense	83648							g.chr8:11301803C>G		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.118G>C	8.37:g.11301803C>G	ENSP00000436655:p.Glu40Gln					FAM167A_ENST00000528897.1_Missense_Mutation_p.E40Q|FAM167A_ENST00000534308.1_Missense_Mutation_p.E40Q	p.E40Q	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN			2	656	-			40					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	37	c.118G>C	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861504	0.32884	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.34	3.46	0.39613	.	0.061055	0.64402	D	0.000006	T	0.04907	0.0132	N	0.16368	0.405	0.48901	D	0.99972	B	0.32653	0.379	B	0.28709	0.093	T	0.21793	-1.0235	10	0.06236	T	0.91	-33.3392	16.2926	0.82758	0.0:0.7343:0.2657:0.0	.	40	Q96KS9	F167A_HUMAN	Q	40	ENSP00000284486:E40Q;ENSP00000432232:E40Q;ENSP00000436655:E40Q;ENSP00000431951:E40Q	ENSP00000284486:E40Q	E	-	1	0	FAM167A	11339213	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.352000	0.59404	1.473000	0.48159	-0.175000	0.13238	GAG		0.677	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			21	59	0	0	0	1	0	21	59				
PTPN6	5777	broad.mit.edu	37	12	7064379	7064379	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:7064379C>G	ENST00000318974.9	+	5	826	c.582C>G	c.(580-582)ttC>ttG	p.F194L	PTPN6_ENST00000447931.2_Missense_Mutation_p.F155L|PTPN6_ENST00000399448.1_Missense_Mutation_p.F196L|PTPN6_ENST00000456013.1_Missense_Mutation_p.F194L	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	194	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TGGAGCATTTCAAGAAGACGG	0.617																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(580-582)ttC>ttG		protein tyrosine phosphatase, non-receptor type 6							121.0	128.0	126.0					12																	7064379		1997	4164	6161	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7064379C>G		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.582C>G	12.37:g.7064379C>G	ENSP00000326010:p.Phe194Leu					PTPN6_ENST00000399448.1_Missense_Mutation_p.F196L|PTPN6_ENST00000447931.2_Missense_Mutation_p.F155L|PTPN6_ENST00000318974.9_Missense_Mutation_p.F194L	p.F194L	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			5	824	+			194			SH2 2.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.582C>G	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346167	0.82022	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.33	2.39	0.29439	SH2 motif (4);	0.063409	0.64402	D	0.000005	D	0.86285	0.5896	L	0.41356	1.27	0.52501	D	0.999951	P;P;P;P;P	0.52170	0.951;0.901;0.654;0.903;0.844	P;B;B;P;P	0.49528	0.614;0.259;0.259;0.496;0.496	D	0.84395	0.0557	10	0.72032	D	0.01	.	9.7142	0.40265	0.0:0.8199:0.0:0.1801	.	182;155;194;194;196	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	L	196;155;194;194	ENSP00000382376:F196L;ENSP00000415979:F155L;ENSP00000326010:F194L;ENSP00000391592:F194L	ENSP00000326010:F194L	F	+	3	2	PTPN6	6934640	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	2.408000	0.44574	0.349000	0.23975	0.491000	0.48974	TTC		0.617	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		30	114	0	0	0	1	0	30	114				
DNAH10	196385	broad.mit.edu	37	12	124268630	124268630	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:124268630C>A	ENST00000409039.3	+	8	978	c.953C>A	c.(952-954)gCt>gAt	p.A318D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	318	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGCTTGTGGCTAATCTGCAG	0.468																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(952-954)gCt>gAt		dynein, axonemal, heavy chain 10							161.0	137.0	145.0					12																	124268630		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124268630C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.953C>A	12.37:g.124268630C>A	ENSP00000386770:p.Ala318Asp						p.A318D	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	8	978	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		318			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.953C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	1.366	-0.587471	0.03799	.	.	ENSG00000197653	ENST00000409039	T	0.56941	0.43	5.86	4.97	0.65823	Dynein heavy chain, domain-1 (1);	0.602884	0.16688	N	0.203664	T	0.40767	0.1130	L	0.47716	1.5	0.22127	N	0.999341	P	0.35527	0.507	B	0.33960	0.173	T	0.32798	-0.9893	10	0.36615	T	0.2	.	5.3952	0.16265	0.2385:0.5688:0.1215:0.0712	.	318	Q8IVF4	DYH10_HUMAN	D	318	ENSP00000386770:A318D	ENSP00000386770:A318D	A	+	2	0	DNAH10	122834583	0.961000	0.32948	0.978000	0.43139	0.017000	0.09413	1.088000	0.30877	2.781000	0.95711	0.650000	0.86243	GCT		0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			15	66	1	0	0.000219431	1	0.00022981	15	66				
ABCG4	64137	broad.mit.edu	37	11	119029033	119029033	+	Silent	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:119029033C>T	ENST00000449422.2	+	10	1346	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000307417.3_Silent_p.L386L|ABCG4_ENST00000531739.1_Silent_p.L386L	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	386	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L386L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTCCATCCTCAGGGACACGG	0.582																																						ENST00000307417.3																			1	Substitution - coding silent(1)	p.L386L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1156-1158)ctC>ctT		ATP-binding cassette, sub-family G (WHITE), member 4							198.0	179.0	185.0					11																	119029033		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119029033C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1158C>T	11.37:g.119029033C>T						ABCG4_ENST00000531739.1_Silent_p.L386L|ABCG4_ENST00000449422.2_Silent_p.L386L	p.L386L	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	1522	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	386			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1158C>T	CCDS8415.1																																																																																				0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		72	160	0	0	0	1	0	72	160				
PDE11A	50940	broad.mit.edu	37	2	178565870	178565870	+	Silent	SNP	G	G	C	rs149627351	byFrequency	TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr2:178565870G>C	ENST00000286063.6	-	14	2540	c.2223C>G	c.(2221-2223)gcC>gcG	p.A741A	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Silent_p.A491A|PDE11A_ENST00000409504.1_Silent_p.A383A|AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000389683.3_Silent_p.A297A|PDE11A_ENST00000449286.2_Silent_p.A383A|AC012499.1_ENST00000450227.1_RNA	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	741	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GGATCATCACGGCGTGGTTGA	0.512									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(2221-2223)gcC>gcG		phosphodiesterase 11A							142.0	119.0	127.0					2																	178565870		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178565870G>C	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2223C>G	2.37:g.178565870G>C						PDE11A_ENST00000409504.1_Silent_p.A383A|PDE11A_ENST00000358450.4_Silent_p.A491A|PDE11A_ENST00000389683.3_Silent_p.A297A|PDE11A_ENST00000449286.2_Silent_p.A383A|AC012499.1_ENST00000412133.1_RNA|AC012499.1_ENST00000450227.1_RNA|PDE11A_ENST00000497003.1_5'UTR	p.A741A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		14	2540	-			741			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.2223C>G	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	6.976	0.550157	0.13374	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	T	0.43433	0.1247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55749	-0.8092	4	.	.	.	.	7.7137	0.28692	0.3984:0.0:0.3609:0.2408	.	.	.	.	R	349	.	.	P	-	2	0	PDE11A	178274116	0.000000	0.05858	0.156000	0.22583	0.844000	0.47949	-1.957000	0.01521	-2.743000	0.00378	-1.049000	0.02347	CCG		0.512	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			9	11	0	0	0	1	0	9	11				
EPPK1	83481	broad.mit.edu	37	8	144941937	144941937	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr8:144941937C>T	ENST00000525985.1	-	2	5556	c.5485G>A	c.(5485-5487)Gaa>Aaa	p.E1829K				P58107	EPIPL_HUMAN	epiplakin 1	1829						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGATGATTTCCAGCAATTTC	0.537																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5485-5487)Gaa>Aaa		epiplakin 1							239.0	235.0	237.0					8																	144941937		2038	4195	6233	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941937C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5485G>A	8.37:g.144941937C>T	ENSP00000436337:p.Glu1829Lys						p.E1829K			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5556	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1829					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5485G>A		.	.	.	.	.	.	.	.	.	.	C	10.88	1.476514	0.26511	.	.	ENSG00000227184	ENST00000525985	T	0.66099	-0.19	5.1	1.99	0.26369	.	.	.	.	.	T	0.35189	0.0923	N	0.11131	0.1	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.19582	-1.0301	9	0.15952	T	0.53	.	3.9189	0.09234	0.0:0.4871:0.1756:0.3373	.	1829	E9PPU0	.	K	1829	ENSP00000436337:E1829K	ENSP00000436337:E1829K	E	-	1	0	EPPK1	145013925	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.059000	0.11731	0.199000	0.20427	0.585000	0.79938	GAA		0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	228	0	0	0	1	0	11	228				
GIT1	28964	broad.mit.edu	37	17	27904726	27904726	+	Silent	SNP	C	C	A			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:27904726C>A	ENST00000225394.3	-	10	1166	c.918G>T	c.(916-918)gtG>gtT	p.V306V	GIT1_ENST00000581348.1_Silent_p.V315V|GIT1_ENST00000579937.1_Silent_p.V306V|GIT1_ENST00000394869.3_Silent_p.V315V|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	306	ARHGEF6-binding. {ECO:0000250}.|PTK2/FAK1-binding. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGCGCTCTGTCACCAGAGTGC	0.642																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(916-918)gtG>gtT		G protein-coupled receptor kinase interacting ArfGAP 1							104.0	89.0	94.0					17																	27904726		2203	4300	6503	SO:0001819	synonymous_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27904726C>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.918G>T	17.37:g.27904726C>A						GIT1_ENST00000581348.1_Silent_p.V315V|GIT1_ENST00000394869.3_Silent_p.V315V|GIT1_ENST00000579937.1_Silent_p.V306V|RP11-68I3.2_ENST00000581474.1_RNA	p.V306V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	10	1166	-			306			ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.918G>T	CCDS11250.1																																																																																				0.642	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		26	91	1	0	1.30897e-18	1	1.53705e-18	26	91				
MUC6	4588	broad.mit.edu	37	11	1017429	1017429	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr11:1017429C>G	ENST00000421673.2	-	31	5422	c.5372G>C	c.(5371-5373)aGc>aCc	p.S1791T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1791	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTAGCCTGCTGCTGGTGGC	0.592																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5371-5373)aGc>aCc		mucin 6, oligomeric mucus/gel-forming							518.0	511.0	513.0					11																	1017429		2203	4296	6499	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017429C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5372G>C	11.37:g.1017429C>G	ENSP00000406861:p.Ser1791Thr						p.S1791T	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5422	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1791			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5372G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.877	-0.730150	0.03135	.	.	ENSG00000184956	ENST00000421673	T	0.15487	2.42	2.56	-5.12	0.02893	.	.	.	.	.	T	0.18045	0.0433	L	0.34521	1.04	0.09310	N	1	D	0.63880	0.993	D	0.64877	0.93	T	0.02519	-1.1147	9	0.05721	T	0.95	.	8.3423	0.32252	0.0:0.1826:0.5359:0.2815	.	1791	Q6W4X9	MUC6_HUMAN	T	1791	ENSP00000406861:S1791T	ENSP00000406861:S1791T	S	-	2	0	MUC6	1007429	.	.	0.000000	0.03702	0.007000	0.05969	.	.	-2.134000	0.00812	-0.657000	0.03884	AGC		0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		7	952	0	0	0	1	0	7	952				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	38	0	0	0	1	0	3	38				
LINC00971	440970	broad.mit.edu	37	3	84740860	84740861	+	lincRNA	INS	-	-	AT			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr3:84740860_84740861insAT	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		GGTGACCTACAATAGGCAGCAC	0.446																																						ENST00000484892.1																			0																																																			440970							g.chr3:84740860_84740861insAT			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84740861_84740862dupAT								NR_033860.1						0	2354	-									RNA	INS	ENST00000484892.1	37																																																																																						0.446	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			8	22						8	22	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		3	6						3	6	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101892133	101892135	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr7:101892133_101892135delCAG	ENST00000292535.7	+	24	4367_4369	c.4329_4331delCAG	c.(4327-4332)aacagc>aac	p.S1448del	CUX1_ENST00000549414.2_In_Frame_Del_p.S1426del|CUX1_ENST00000360264.3_In_Frame_Del_p.S1459del|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_In_Frame_Del_p.S1346del|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_In_Frame_Del_p.S1392del|CUX1_ENST00000556210.1_In_Frame_Del_p.S1290del|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1448					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCCCAGCAACAGCAGCAGCAGC	0.823																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(4360-4365)aac>aa		cut-like homeobox 1			,,,,,,	29,1415		8,13,701					,,,,,,	1.6	1.0			2	105,3503		14,77,1713	no	coding,intron,intron,intron,intron,intron,coding	CUX1	NM_181552.3,NM_181500.2,NM_001913.3,NM_001202546.1,NM_001202545.1,NM_001202544.1,NM_001202543.1	,,,,,,	22,90,2414	A1A1,A1R,RR		2.9102,2.0083,2.6524	,,,,,,	,,,,,,		134,4918				SO:0001651	inframe_deletion	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101892133_101892135delCAG	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.4329_4331delCAG	7.37:g.101892142_101892144delCAG	ENSP00000292535:p.Ser1448del					CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_In_Frame_Del_p.NS1443del|CUX1_ENST00000556210.1_In_Frame_Del_p.NS1285del|CUX1_ENST00000550008.2_In_Frame_Del_p.NS1387del|CUX1_ENST00000549414.2_In_Frame_Del_p.NS1421del|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_In_Frame_Del_p.NS1341del	p.NS1454del	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			24	4382_4384	+			1443					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	In_Frame_Del	DEL	ENST00000292535.7	37	c.4362_4364delCAG	CCDS5721.1																																																																																				0.823	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		2	4						2	4	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2123926	2123926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr9:2123926delC	ENST00000382203.1	+	27	4179	c.3970delC	c.(3970-3972)cagfs	p.Q1324fs	SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.Q1324fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.Q1324fs|SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.Q1324fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1324					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CACGGAGAAGCAGTGGCTAAG	0.547																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3970-3972)agfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							26.0	27.0	27.0					9																	2123926		2193	4293	6486	SO:0001589	frameshift_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2123926delC	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3970delC	9.37:g.2123926delC	ENSP00000371638:p.Gln1324fs					SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.Q1324fs|SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.Q1324fs|SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.Q1324fs	p.Q1324fs			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	27	4179	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1324					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Frame_Shift_Del	DEL	ENST00000382203.1	37	c.3970delC	CCDS34977.1																																																																																				0.547	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		2	4						2	4	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66464331	66464332	+	lincRNA	INS	-	-	A	rs112210625		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr9:66464331_66464332insA	ENST00000424345.1	+	0	224																											GCACAATAGACAAAATATTCTC	0.332																																						ENST00000424345.1																			0																																																			103352539							g.chr9:66464331_66464332insA																													9.37:g.66464335_66464335dupA														0	224	+									RNA	INS	ENST00000424345.1	37																																																																																						0.332	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			5	2						5	2	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49420547	49420565	+	Frame_Shift_Del	DEL	CCGTGGACCAAAGGGCACA	CCGTGGACCAAAGGGCACA	-			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr12:49420547_49420565delCCGTGGACCAAAGGGCACA	ENST00000301067.7	-	48	15183_15201	c.15184_15202delTGTGCCCTTTGGTCCACGG	c.(15184-15204)tgtgccctttggtccacggagfs	p.CALWSTE5062fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5062					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGC	0.621																																						ENST00000301067.7																			0											c.(15184-15204)agfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49420547_49420565delCCGTGGACCAAAGGGCACA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15184_15202delTGTGCCCTTTGGTCCACGG	12.37:g.49420547_49420565delCCGTGGACCAAAGGGCACA	ENSP00000301067:p.Cys5062fs						p.CALWSTE5062fs	NM_003482.3	NP_003473.3					48	15183_15201	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.15184_15202delTGTGCCCTTTGGTCCACGG	CCDS44873.1																																																																																				0.621	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	49						9	49	---	---	---	---
UBE2Q2P2	100134869	broad.mit.edu	37	15	83081482	83081483	+	RNA	INS	-	-	G	rs201511010		TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr15:83081482_83081483insG	ENST00000558477.1	+	0	510					NR_004847.2																						AAATGttttttttttttttttt	0.327																																						ENST00000558477.1																			0																																																			100134869							g.chr15:83081482_83081483insG																													15.37:g.83081482_83081483insG								NR_004847.2						0	510	+									RNA	INS	ENST00000558477.1	37																																																																																						0.327	UBE2Q2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419279.1			2	4						2	4	---	---	---	---
THAP11	57215	broad.mit.edu	37	16	67876538	67876538	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr16:67876538delA	ENST00000303596.1	+	1	326	c.81delA	c.(79-81)ccafs	p.P27fs	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ACACGTTTCCAAAGGACGCTG	0.652																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(79-81)ccfs		THAP domain containing 11																																				SO:0001589	frameshift_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876538delA	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.81delA	16.37:g.67876538delA	ENSP00000304689:p.Pro27fs					CENPT_ENST00000562787.1_Intron	p.P27fs	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	326	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	27					A4UCT5|A8K002|O94795	Frame_Shift_Del	DEL	ENST00000303596.1	37	c.81delA	CCDS10847.1																																																																																				0.652	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		2	4						2	4	---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40345560	40345562	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:40345560_40345562delGCA	ENST00000301671.8	-	2	479_481	c.38_40delTGC	c.(37-42)ctgcca>cca	p.L13del	GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000414034.3_In_Frame_Del_p.L13del|GHDC_ENST00000428494.2_In_Frame_Del_p.L13del|GHDC_ENST00000436923.2_In_Frame_Del_p.L13del|GHDC_ENST00000593209.1_In_Frame_Del_p.L13del|GHDC_ENST00000587427.1_In_Frame_Del_p.L13del			Q8N2G8	GHDC_HUMAN	GH3 domain containing	13						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCCAATGTTGgcagcagcagcag	0.631																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(37-42)cca>c		GH3 domain containing			,,	153,2,2875		20,0,113,1,0,1381					,,	-3.0	0.0			4	312,7,5755		37,0,238,1,5,2756	no	codingComplex,codingComplex,codingComplex	GHDC	NM_032484.4,NM_001142623.1,NM_001142622.1	,,	57,0,351,2,5,4137	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2519,5.1155,5.2065	,,	,,		465,9,8630				SO:0001651	inframe_deletion	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40345560_40345562delGCA	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.38_40delTGC	17.37:g.40345569_40345571delGCA	ENSP00000301671:p.Leu13del					GHDC_ENST00000436923.2_In_Frame_Del_p.LP13del|GHDC_ENST00000428494.2_In_Frame_Del_p.LP13del|GHDC_ENST00000587427.1_In_Frame_Del_p.LP13del|GHDC_ENST00000414034.3_In_Frame_Del_p.LP13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000593209.1_In_Frame_Del_p.LP13del	p.LP13del			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	479_481	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	13					B4DQS4|E9PDB5|Q9BXM6	In_Frame_Del	DEL	ENST00000301671.8	37	c.38_40delTGC	CCDS11422.1																																																																																				0.631	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		2	4						2	4	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46136269	46136276	+	Frame_Shift_Del	DEL	GACTCTGA	GACTCTGA	-			TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr17:46136269_46136276delGACTCTGA	ENST00000362042.3	+	6	2201_2208	c.1585_1592delGACTCTGA	c.(1585-1593)gactctgagfs	p.DSE529fs	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Frame_Shift_Del_p.DSE499fs|NFE2L1_ENST00000582155.1_Frame_Shift_Del_p.DSE341fs|NFE2L1_ENST00000583378.1_Frame_Shift_Del_p.DSE330fs|NFE2L1_ENST00000361665.3_Frame_Shift_Del_p.DSE518fs|NFE2L1_ENST00000536222.1_Frame_Shift_Del_p.DSE373fs|NFE2L1_ENST00000357480.5_Frame_Shift_Del_p.DSE499fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	529					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTACAGCTCTGACTCTGAGACCCTGGAT	0.553																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1585-1593)gfs		nuclear factor, erythroid 2-like 1																																				SO:0001589	frameshift_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46136269_46136276delGACTCTGA	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1585_1592delGACTCTGA	17.37:g.46136269_46136276delGACTCTGA	ENSP00000354855:p.Asp529fs					NFE2L1_ENST00000582155.1_Frame_Shift_Del_p.DSE341fs|NFE2L1_ENST00000536222.1_Frame_Shift_Del_p.DSE373fs|NFE2L1_ENST00000585291.1_Frame_Shift_Del_p.DSE499fs|NFE2L1_ENST00000583378.1_Frame_Shift_Del_p.DSE330fs|NFE2L1_ENST00000361665.3_Frame_Shift_Del_p.DSE518fs|NFE2L1_ENST00000357480.5_Frame_Shift_Del_p.DSE499fs	p.DSE529fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			6	2201_2208	+			529					D3DTU3|D3DTU5|Q12877|Q96FN6	Frame_Shift_Del	DEL	ENST00000362042.3	37	c.1585_1592delGACTCTGA	CCDS11524.1																																																																																				0.553	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		7	49						7	49	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	lincRNA	DEL	T	T	-	rs559860539|rs34190287|rs66639120	byFrequency	TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													|||unknown(HR)	1522	0.303914	0.3994	0.2983	5008	,	,		15302	0.2619		0.2346	False		,,,				2504	0.2935					ENST00000597550.1																			0																																																			0							g.chr19:53703995delT																													19.37:g.53703995delT														0	232	+									RNA	DEL	ENST00000597550.1	37																																																																																						0.473	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			5	1						5	1	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11061392	11061394	+	RNA	DEL	AAG	AAG	-	rs60312601|rs145948632|rs556319196|rs2951021	byFrequency	TCGA-QK-A8ZB-01A-11D-A391-08	TCGA-QK-A8ZB-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a72d565e-2838-42f8-a155-14ff51a727d7	adb6404c-5964-4af7-a7c7-3c0404e4281c	g.chr21:11061392_11061394delAAG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAACACAATAAGAACAACAAAA	0.251														80	0.0159744	0.0265	0.0058	5008	,	,		74108	0.005		0.0149	False		,,,				2504	0.0215					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11061392_11061394delAAG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11061392_11061394delAAG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.251	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
