#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
MPHOSPH9	10198	broad.mit.edu	37	12	123687267	123687267	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:123687267G>A	ENST00000606320.1	-	10	1891	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S532L|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S410L|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S410L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	562						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S410L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GACTGAGGCCGAAGCAACCAT	0.438																																						ENST00000606320.1																			1	Substitution - Missense(1)	p.S410L(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1684-1686)tCg>tTg		M-phase phosphoprotein 9							124.0	113.0	117.0					12																	123687267		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687267G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1685C>T	12.37:g.123687267G>A	ENSP00000475489:p.Ser562Leu					MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S410L|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S532L|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S410L	p.S562L			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	10	1891	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		410					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.1685C>T		.	.	.	.	.	.	.	.	.	.	G	14.86	2.661958	0.47572	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.32515	1.45;1.47	5.37	5.37	0.77165	.	1.279530	0.05202	N	0.505217	T	0.32615	0.0835	L	0.29908	0.895	0.09310	N	1	P	0.35700	0.516	B	0.36719	0.231	T	0.46652	-0.9176	10	0.42905	T	0.14	-0.0117	17.2928	0.87162	0.0:0.0:1.0:0.0	.	410	Q99550	MPP9_HUMAN	L	410	ENSP00000303597:S410L;ENSP00000445859:S410L	ENSP00000303597:S410L	S	-	2	0	MPHOSPH9	122253220	0.110000	0.22057	0.027000	0.17364	0.873000	0.50193	2.780000	0.47742	2.516000	0.84829	0.557000	0.71058	TCG		0.438	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			4	79	0	0	0	1	0	4	79				
NOTCH4	4855	broad.mit.edu	37	6	32169899	32169899	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:32169899C>T	ENST00000375023.3	-	21	3847	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1237					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AACAGACACTCTTCAGAGTCA	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3709-3711)Gag>Aag		notch 4							110.0	114.0	112.0					6																	32169899		1509	2708	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169899C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3709G>A	6.37:g.32169899C>T	ENSP00000364163:p.Glu1237Lys						p.E1237K	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			21	3847	-			1237					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3709G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612148	0.87258	.	.	ENSG00000204301	ENST00000375023	T	0.64438	-0.1	4.77	4.77	0.60923	Notch domain (5);	0.000000	0.45867	D	0.000330	T	0.56292	0.1975	L	0.28649	0.875	0.80722	D	1	P	0.49307	0.922	P	0.58577	0.841	T	0.55471	-0.8136	10	0.35671	T	0.21	.	15.3209	0.74120	0.0:1.0:0.0:0.0	.	1237	Q99466	NOTC4_HUMAN	K	1237	ENSP00000364163:E1237K	ENSP00000364163:E1237K	E	-	1	0	NOTCH4	32277877	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	7.579000	0.82511	2.481000	0.83766	0.561000	0.74099	GAG		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			17	103	0	0	0	1	0	17	103				
NALCN	259232	broad.mit.edu	37	13	101721054	101721054	+	Silent	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:101721054C>A	ENST00000251127.6	-	38	4404	c.4323G>T	c.(4321-4323)ctG>ctT	p.L1441L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1441					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTACAAGCAGATTTAGCA	0.333																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(4321-4323)ctG>ctT		sodium leak channel, non-selective							78.0	71.0	73.0					13																	101721054		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101721054C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4323G>T	13.37:g.101721054C>A							p.L1441L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			38	4404	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1441					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.4323G>T	CCDS9498.1																																																																																				0.333	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		6	29	1	0	0.00116845	1	0.00118588	6	29				
LPCAT4	254531	broad.mit.edu	37	15	34656470	34656470	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:34656470C>T	ENST00000314891.6	-	4	693	c.516G>A	c.(514-516)cgG>cgA	p.R172R	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	172					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCGGGTCATGCCGGGATACCA	0.582																																						ENST00000314891.6																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(514-516)cgG>cgA		lysophosphatidylcholine acyltransferase 4							104.0	107.0	106.0					15																	34656470		2201	4298	6499	SO:0001819	synonymous_variant	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34656470C>T	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.516G>A	15.37:g.34656470C>T							p.R172R	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN			4	693	-			172					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Silent	SNP	ENST00000314891.6	37	c.516G>A	CCDS32191.1																																																																																				0.582	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		4	184	0	0	0	1	0	4	184				
ADPGK	83440	broad.mit.edu	37	15	73047994	73047994	+	Splice_Site	SNP	A	A	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:73047994A>T	ENST00000311669.8	-	6	935	c.842T>A	c.(841-843)gTt>gAt	p.V281D	ADPGK_ENST00000567733.1_5'UTR|ADPGK_ENST00000456471.2_Splice_Site_p.V7D	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	281	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GGAGGTTACAACCTGCAAAGA	0.463																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.e6-1		ADP-dependent glucokinase							101.0	96.0	97.0					15																	73047994		1912	4140	6052	SO:0001630	splice_region_variant	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73047994A>T	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.841-1T>A	15.37:g.73047994A>T						ADPGK_ENST00000567733.1_5'UTR|ADPGK_ENST00000456471.2_Splice_Site_p.V7_splice	p.V281_splice	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			6	935	-			281			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Splice_Site	SNP	ENST00000311669.8	37	c.840_splice	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421646	0.83559	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471;ENST00000331065	T;T	0.38722	1.12;1.12	5.77	4.65	0.58169	.	0.046816	0.85682	D	0.000000	T	0.35828	0.0945	L	0.39898	1.24	0.80722	D	1	P;P;P;P	0.52061	0.915;0.95;0.896;0.846	P;P;P;B	0.49387	0.609;0.609;0.474;0.387	T	0.21075	-1.0256	10	0.35671	T	0.21	-24.3525	3.3313	0.07085	0.6695:0.0:0.3305:0.0	.	223;281;281;7	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	D	281;200;7;159	ENSP00000312250:V281D;ENSP00000397694:V7D	ENSP00000312250:V281D	V	-	2	0	ADPGK	70835047	1.000000	0.71417	0.979000	0.43373	0.967000	0.64934	6.377000	0.73145	2.210000	0.71456	0.459000	0.35465	GTT		0.463	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284	Missense_Mutation	7	64	0	0	0	1	0	7	64				
AHNAK2	113146	broad.mit.edu	37	14	105413904	105413904	+	Silent	SNP	C	C	T	rs183423977	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:105413904C>T	ENST00000333244.5	-	7	8003	c.7884G>A	c.(7882-7884)gcG>gcA	p.A2628A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2628						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCAGCCGCGCACCATCCA	0.592													.|||	2	0.000399361	0.0015	0.0	5008	,	,		18777	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7882-7884)gcG>gcA		AHNAK nucleoprotein 2							167.0	181.0	176.0					14																	105413904		1920	4115	6035	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413904C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7884G>A	14.37:g.105413904C>T						AHNAK2_ENST00000557457.1_Intron	p.A2628A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8003	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2628					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7884G>A	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	447	0	0	0	1	0	5	447				
PER2	8864	broad.mit.edu	37	2	239162045	239162045	+	Silent	SNP	G	G	A	rs376874446		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:239162045G>A	ENST00000254657.3	-	19	2898	c.2619C>T	c.(2617-2619)caC>caT	p.H873H	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	873	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGAAGCTGGCGTGGGGAGGTG	0.662																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2617-2619)caC>caT		period circadian clock 2		G		0,4406		0,0,2203	26.0	28.0	27.0		2619	-6.6	0.0	2		27	1,8595		0,1,4297	no	coding-synonymous	PER2	NM_022817.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		873/1256	239162045	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239162045G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2619C>T	2.37:g.239162045G>A						AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.H873H	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	2898	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	873			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.2619C>T	CCDS2528.1																																																																																				0.662	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		15	50	0	0	0	1	0	15	50				
HIST3H2BB	128312	broad.mit.edu	37	1	228646048	228646048	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:228646048G>A	ENST00000369160.2	+	1	241	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R73L(1)		skin(1)	1		Prostate(94;0.183)				ATCTTCGAGCGCATCGCCAGC	0.622																																						ENST00000369160.2																			1	Substitution - Missense(1)	p.R73L(1)	lung(1)	skin(1)	1						c.(217-219)cGc>cAc		histone cluster 3, H2bb							86.0	81.0	83.0					1																	228646048		2203	4300	6503	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646048G>A	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.218G>A	1.37:g.228646048G>A	ENSP00000375736:p.Arg73His						p.R73H	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	241	+		Prostate(94;0.183)	73					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.218G>A	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	18.08	3.544449	0.65198	.	.	ENSG00000196890	ENST00000369160	T	0.69561	-0.41	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.141869	0.32134	N	0.006534	T	0.67524	0.2902	M	0.79258	2.445	0.50632	D	0.999887	B	0.17038	0.02	B	0.19391	0.025	T	0.69202	-0.5207	10	0.49607	T	0.09	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	73	Q8N257	H2B3B_HUMAN	H	73	ENSP00000375736:R73H	ENSP00000375736:R73H	R	+	2	0	HIST3H2BB	226712671	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.967000	0.93402	2.491000	0.84063	0.586000	0.80456	CGC		0.622	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		4	135	0	0	0	1	0	4	135				
RPLP0	6175	broad.mit.edu	37	12	120636928	120636928	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:120636928G>A	ENST00000551150.1	-	3	626	c.311C>T	c.(310-312)gCc>gTc	p.A104V	RPLP0_ENST00000552292.1_5'Flank|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000313104.5_Missense_Mutation_p.A104V|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000228306.4_Missense_Mutation_p.A104V|RPLP0_ENST00000546989.1_Missense_Mutation_p.A104V|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.A104V			P05388	RLA0_HUMAN	ribosomal protein, large, P0	104					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACCTTATTGGCCAGCAACAT	0.478																																						ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(310-312)gCc>gTc		ribosomal protein, large, P0							96.0	93.0	94.0					12																	120636928		2203	4300	6503	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636928G>A	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.311C>T	12.37:g.120636928G>A	ENSP00000449328:p.Ala104Val					RPLP0_ENST00000546989.1_Missense_Mutation_p.A104V|RPLP0_ENST00000392514.4_Missense_Mutation_p.A104V|RPLP0_ENST00000313104.5_Missense_Mutation_p.A104V|RPLP0_ENST00000228306.4_Missense_Mutation_p.A104V|RPLP0_ENST00000550296.1_5'UTR	p.A104V			P05388	RLA0_HUMAN			3	626	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		104					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.311C>T	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.924306	0.73213	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856;ENST00000547191;ENST00000550423;ENST00000551914	T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.92;0.88;0.88;0.88;0.88;0.91	5.34	5.34	0.76211	.	0.128959	0.50627	U	0.000104	T	0.65080	0.2657	M	0.88906	2.99	0.54753	D	0.999988	P;B	0.37688	0.605;0.221	P;B	0.48770	0.589;0.209	T	0.69157	-0.5219	10	0.52906	T	0.07	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	104;104	Q3B7A4;P05388	.;RLA0_HUMAN	V	104;104;104;104;104;104;84;104;90;90;104	ENSP00000376299:A104V;ENSP00000449328:A104V;ENSP00000366471:A104V;ENSP00000449205:A104V;ENSP00000339027:A104V;ENSP00000447311:A104V;ENSP00000449854:A84V;ENSP00000448046:A104V;ENSP00000450121:A90V;ENSP00000449765:A90V;ENSP00000448223:A104V	ENSP00000339027:A104V	A	-	2	0	RPLP0	119121311	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.522000	0.73783	2.508000	0.84585	0.655000	0.94253	GCC		0.478	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		10	38	0	0	0	1	0	10	38				
MAP2	4133	broad.mit.edu	37	2	210594683	210594683	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:210594683C>T	ENST00000360351.4	+	14	5771	c.5265C>T	c.(5263-5265)gtC>gtT	p.V1755V	MAP2_ENST00000447185.1_Silent_p.V1751V|MAP2_ENST00000392194.1_Silent_p.V399V|MAP2_ENST00000199940.6_Silent_p.V487V|MAP2_ENST00000361559.4_Silent_p.V399V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1755					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GTGGTAATGTCAAGGTAAGAA	0.358																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(5263-5265)gtC>gtT		microtubule-associated protein 2	Estramustine(DB01196)						91.0	87.0	88.0					2																	210594683		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210594683C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5265C>T	2.37:g.210594683C>T						MAP2_ENST00000392194.1_Silent_p.V399V|MAP2_ENST00000361559.4_Silent_p.V399V|MAP2_ENST00000447185.1_Silent_p.V1751V|MAP2_ENST00000199940.6_Silent_p.V487V	p.V1755V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	14	5771	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1755					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.5265C>T	CCDS2384.1																																																																																				0.358	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		11	59	0	0	0	1	0	11	59				
CCDC24	149473	broad.mit.edu	37	1	44457953	44457953	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:44457953G>C	ENST00000372318.3	+	3	367	c.196G>C	c.(196-198)Gac>Cac	p.D66H	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000479055.1_Intron|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	66										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCCATCTCTGACCCCTCTTC	0.617																																						ENST00000372318.3																			0				endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9						c.(196-198)Gac>Cac		coiled-coil domain containing 24							78.0	90.0	86.0					1																	44457953		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44457953G>C		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.196G>C	1.37:g.44457953G>C	ENSP00000361392:p.Asp66His					SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	p.D66H	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN			3	367	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	66					Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.196G>C	CCDS507.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602518	0.66445	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.12	3.21	0.36854	.	0.469312	0.19394	N	0.115326	T	0.65831	0.2729	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.64219	-0.6459	9	0.46703	T	0.11	-15.3176	7.7132	0.28690	0.1707:0.0:0.8293:0.0	.	22;66	Q05BG8;Q8N4L8	.;CCD24_HUMAN	H	66	.	ENSP00000361392:D66H	D	+	1	0	CCDC24	44230540	0.000000	0.05858	0.987000	0.45799	0.943000	0.58893	0.314000	0.19432	2.371000	0.80710	0.313000	0.20887	GAC		0.617	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		18	135	0	0	0	1	0	18	135				
TBXA2R	6915	broad.mit.edu	37	19	3600021	3600021	+	Silent	SNP	G	G	A	rs201736798		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:3600021G>A	ENST00000375190.4	-	2	1005	c.612C>T	c.(610-612)ggC>ggT	p.G204G	TBXA2R_ENST00000411851.3_Silent_p.G204G|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000587717.1_5'UTR	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	204					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGAGAGGCCGCCCAGCATGG	0.701																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(610-612)ggC>ggT		thromboxane A2 receptor	Ridogrel(DB01207)						21.0	33.0	29.0					19																	3600021		2137	4243	6380	SO:0001819	synonymous_variant	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600021G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.612C>T	19.37:g.3600021G>A						TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000411851.3_Silent_p.G204G	p.G204G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1005	-		Hepatocellular(1079;0.137)	204					O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	c.612C>T	CCDS42467.1																																																																																				0.701	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			8	48	0	0	0	1	0	8	48				
SOGA1	140710	broad.mit.edu	37	20	35467698	35467698	+	Silent	SNP	G	G	A	rs371953097	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr20:35467698G>A	ENST00000357779.3	-	2	446	c.120C>T	c.(118-120)gcC>gcT	p.A40A	SOGA1_ENST00000279034.6_Silent_p.A40A|SOGA1_ENST00000237536.4_Silent_p.A278A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	40					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGCGGCGCTCGGCTTTGCGCA	0.657													G|||	4	0.000798722	0.0	0.0	5008	,	,		16729	0.0		0.0	False		,,,				2504	0.0041					ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(832-834)gcC>gcT		suppressor of glucose, autophagy associated 1		G	,	0,4064		0,0,2032	48.0	52.0	51.0		834,120	-9.7	0.1	20		51	1,8371		0,1,4185	no	coding-synonymous,coding-synonymous	KIAA0889	NM_080627.2,NM_199181.2	,	0,1,6217	AA,AG,GG		0.0119,0.0,0.0080	,	278/1662,40/1017	35467698	1,12435	2032	4186	6218	SO:0001819	synonymous_variant	140710							g.chr20:35467698G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.120C>T	20.37:g.35467698G>A						SOGA1_ENST00000357779.3_Silent_p.A40A|SOGA1_ENST00000279034.5_Silent_p.A40A	p.A278A	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			2	1175	-			40					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.834C>T																																																																																					0.657	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		4	122	0	0	0	1	0	4	122				
NOTCH4	4855	broad.mit.edu	37	6	32169900	32169900	+	Silent	SNP	T	T	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:32169900T>C	ENST00000375023.3	-	21	3846	c.3708A>G	c.(3706-3708)gaA>gaG	p.E1236E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1236					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGACACTCTTCAGAGTCAC	0.627																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3706-3708)gaA>gaG		notch 4							110.0	114.0	112.0					6																	32169900		1509	2708	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169900T>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3708A>G	6.37:g.32169900T>C							p.E1236E	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			21	3846	-			1236					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.3708A>G	CCDS34420.1																																																																																				0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			17	104	0	0	0	1	0	17	104				
LGALS9C	654346	broad.mit.edu	37	17	18392258	18392258	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:18392258C>T	ENST00000328114.6	+	5	529	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.P62S|LGALS9C_ENST00000583322.1_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	150							carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TTAACAGAATCCCCGCGCAGT	0.592																																						ENST00000328114.6																			0				NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						c.(448-450)Ccc>Tcc		lectin, galactoside-binding, soluble, 9C							80.0	64.0	70.0					17																	18392258		2176	4054	6230	SO:0001583	missense	654346						sugar binding	g.chr17:18392258C>T		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.448C>T	17.37:g.18392258C>T	ENSP00000329932:p.Pro150Ser					LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.P62S|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000583322.1_Intron	p.P150S	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN			5	529	+			150					B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.448C>T	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	c	0.210	-1.037221	0.02013	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.11712	3.58;2.75	2.91	-5.14	0.02875	Concanavalin A-like lectin/glucanase (1);	2.286060	0.02478	N	0.088189	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34502	-0.9826	10	0.11485	T	0.65	.	5.289	0.15717	0.3243:0.5012:0.0:0.1745	.	150	Q6DKI2	LEG9C_HUMAN	S	62;150	ENSP00000390286:P62S;ENSP00000329932:P150S	ENSP00000329932:P150S	P	+	1	0	LGALS9C	18332983	0.000000	0.05858	0.009000	0.14445	0.039000	0.13416	0.050000	0.14120	-1.203000	0.02652	0.195000	0.17529	CCC		0.592	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		8	56	0	0	0	1	0	8	56				
CDC23	8697	broad.mit.edu	37	5	137542373	137542373	+	Splice_Site	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:137542373C>T	ENST00000394886.2	-	3	265	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	CDC23_ENST00000394884.3_Splice_Site_p.E79K|CDC23_ENST00000505120.1_Intron	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGGCATCTTCCTAAAAAAGA	0.388																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.e3-1		cell division cycle 23							71.0	69.0	69.0					5																	137542373		2203	4300	6503	SO:0001630	splice_region_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137542373C>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.235-1G>A	5.37:g.137542373C>T						CDC23_ENST00000394884.3_Splice_Site_p.E79_splice|CDC23_ENST00000505120.1_Intron	p.E79_splice	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		3	265	-			79					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Splice_Site	SNP	ENST00000394886.2	37	c.234_splice	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815921	0.70912	.	.	ENSG00000094880	ENST00000394886;ENST00000394884	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	Cdc23 (1);	0.049770	0.85682	D	0.000000	T	0.60235	0.2253	M	0.64404	1.975	0.80722	D	1	D;P	0.76494	0.999;0.741	D;B	0.73380	0.98;0.405	T	0.50816	-0.8783	10	0.07325	T	0.83	-17.6392	20.3812	0.98933	0.0:1.0:0.0:0.0	.	79;79	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	K	79	ENSP00000378350:E79K;ENSP00000378348:E79K	ENSP00000378348:E79K	E	-	1	0	CDC23	137570272	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.722000	0.84778	2.821000	0.97095	0.650000	0.86243	GAA		0.388	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		Missense_Mutation	7	60	0	0	0	1	0	7	60				
PTCHD4	442213	broad.mit.edu	37	6	47847088	47847088	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:47847088C>T	ENST00000339488.4	-	3	1525	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	498						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTTGGCGAATCACTGGCTAGT	0.453																																						ENST00000339488.4																			0											c.(1492-1494)Gat>Aat		patched domain containing 4							72.0	65.0	67.0					6																	47847088		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847088C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1492G>A	6.37:g.47847088C>T	ENSP00000341914:p.Asp498Asn						p.D498N	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1525	-			498					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1492G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	8.591	0.884608	0.17467	.	.	ENSG00000244694	ENST00000339488	D	0.87491	-2.26	5.48	5.48	0.80851	.	0.100547	0.64402	D	0.000003	T	0.72203	0.3431	N	0.20807	0.61	0.80722	D	1	B	0.18310	0.027	B	0.30646	0.118	T	0.69401	-0.5155	10	0.35671	T	0.21	.	13.6105	0.62076	0.0:0.9258:0.0:0.0742	.	498	Q6ZW05	CF138_HUMAN	N	498	ENSP00000341914:D498N	ENSP00000341914:D498N	D	-	1	0	C6orf138	47955047	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.507000	0.60434	2.592000	0.87571	0.650000	0.86243	GAT		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		10	31	0	0	0	1	0	10	31				
TMC4	147798	broad.mit.edu	37	19	54666452	54666452	+	Missense_Mutation	SNP	G	G	C	rs535700076		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:54666452G>C	ENST00000376591.4	-	10	1605	c.1474C>G	c.(1474-1476)Ctg>Gtg	p.L492V	TMC4_ENST00000416963.1_Missense_Mutation_p.L74V|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.L486V|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	492					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGTCAGCAGATCAAAGAGC	0.572																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(1474-1476)Ctg>Gtg		transmembrane channel-like 4							49.0	53.0	52.0					19																	54666452		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54666452G>C	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1474C>G	19.37:g.54666452G>C	ENSP00000365776:p.Leu492Val					TMC4_ENST00000301187.4_Missense_Mutation_p.L486V|TMC4_ENST00000416963.1_Missense_Mutation_p.L74V	p.L492V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			10	1605	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		492					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1474C>G	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946713	0.53186	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.64085	-0.08;-0.08;-0.08	4.71	3.67	0.42095	.	0.214881	0.40385	N	0.001117	T	0.71643	0.3364	M	0.64170	1.965	0.40719	D	0.982648	D;P;D	0.71674	0.998;0.733;0.996	D;P;D	0.74348	0.983;0.623;0.937	T	0.72724	-0.4207	10	0.59425	D	0.04	-14.882	7.0979	0.25319	0.2761:0.0:0.7239:0.0	.	492;486;74	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	V	486;74;492	ENSP00000301187:L486V;ENSP00000405023:L74V;ENSP00000365776:L492V	ENSP00000301187:L486V	L	-	1	2	TMC4	59358264	1.000000	0.71417	0.998000	0.56505	0.460000	0.32559	1.870000	0.39529	1.285000	0.44548	0.591000	0.81541	CTG		0.572	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			13	45	0	0	0	1	0	13	45				
GLT8D2	83468	broad.mit.edu	37	12	104397074	104397074	+	Silent	SNP	G	G	A	rs200622302		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:104397074G>A	ENST00000360814.4	-	5	528	c.123C>T	c.(121-123)tcC>tcT	p.S41S	GLT8D2_ENST00000546436.1_Silent_p.S41S|GLT8D2_ENST00000548660.1_Silent_p.S41S	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	41						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CAGGAGTCTCGGATTCATCAT	0.458																																						ENST00000360814.4																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(121-123)tcC>tcT		glycosyltransferase 8 domain containing 2							148.0	128.0	135.0					12																	104397074		2203	4300	6503	SO:0001819	synonymous_variant	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104397074G>A	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.123C>T	12.37:g.104397074G>A						GLT8D2_ENST00000546436.1_Silent_p.S41S|GLT8D2_ENST00000548660.1_Silent_p.S41S	p.S41S	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN			5	528	-			41					Q96KA2	Silent	SNP	ENST00000360814.4	37	c.123C>T	CCDS9096.1																																																																																				0.458	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		4	96	0	0	0	1	0	4	96				
ZNF611	81856	broad.mit.edu	37	19	53209567	53209567	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:53209567C>T	ENST00000319783.1	-	7	1057	c.741G>A	c.(739-741)agG>agA	p.R247R	ZNF611_ENST00000540744.1_Silent_p.R247R|ZNF611_ENST00000453741.2_Silent_p.R178R|ZNF611_ENST00000543227.1_Silent_p.R247R|ZNF611_ENST00000595798.1_Silent_p.R178R|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000602162.1_Silent_p.R178R	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	247					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(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTGGTGTTTCCTTAAGAGTG	0.373																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(739-741)agG>agA		zinc finger protein 611							133.0	141.0	138.0					19																	53209567		2203	4298	6501	SO:0001819	synonymous_variant	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209567C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.741G>A	19.37:g.53209567C>T						ZNF611_ENST00000595798.1_Silent_p.R178R|ZNF611_ENST00000319783.1_Silent_p.R247R|ZNF611_ENST00000602162.1_Silent_p.R178R|ZNF611_ENST00000540744.1_Silent_p.R247R|ZNF611_ENST00000453741.2_Silent_p.R178R	p.R247R	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1015	-			247					B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	37	c.741G>A	CCDS12855.1																																																																																				0.373	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		31	149	0	0	0	1	0	31	149				
FAT1	2195	broad.mit.edu	37	4	187530345	187530345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:187530345G>A	ENST00000441802.2	-	16	10407	c.10198C>T	c.(10198-10200)Cga>Tga	p.R3400*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3400	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGTTTCTCGGTCGAGAAGT	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10198-10200)Cga>Tga		FAT atypical cadherin 1							118.0	114.0	115.0					4																	187530345		2001	4181	6182	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530345G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10198C>T	4.37:g.187530345G>A	ENSP00000406229:p.Arg3400*	HNSCC(5;0.00058)					p.R3400*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			16	10407	-			3400			Cadherin 31.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10198C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	50	17.189412	0.99881	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0427	0.64687	0.0:0.0:0.7752:0.2248	.	.	.	.	X	3400;3402	.	ENSP00000260147:R3402X	R	-	1	2	FAT1	187767339	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	2.531000	0.45650	2.352000	0.79861	0.563000	0.77884	CGA		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	21	0	0	0	1	0	11	21				
RNF213	57674	broad.mit.edu	37	17	78332134	78332134	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:78332134G>A	ENST00000582970.1	+	37	11052	c.10909G>A	c.(10909-10911)Gcg>Acg	p.A3637T	RNF213_ENST00000508628.2_Missense_Mutation_p.A3686T|RNF213_ENST00000336301.6_Missense_Mutation_p.A1710T|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3637					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCCTCTGCTGGCGAGCATGAT	0.562																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10909-10911)Gcg>Acg		ring finger protein 213							85.0	73.0	77.0					17																	78332134		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78332134G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10909G>A	17.37:g.78332134G>A	ENSP00000464087:p.Ala3637Thr					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A1710T|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.A3686T	p.A3637T	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		37	11052	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.10909G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028022	0.35797	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.39406	1.08	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.83953	2.67	0.41127	D	0.985854	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73550	-0.3947	10	0.87932	D	0	.	17.3431	0.87303	0.0:0.0:1.0:0.0	.	3686;1710	C9JCP4;Q63HN8	.;RN213_HUMAN	T	3637;3686;1710	ENSP00000338218:A1710T	ENSP00000338218:A1710T	A	+	1	0	RNF213	75946729	1.000000	0.71417	0.998000	0.56505	0.021000	0.10359	7.921000	0.87530	2.612000	0.88384	0.637000	0.83480	GCG		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	60	0	0	0	1	0	12	60				
RRP12	23223	broad.mit.edu	37	10	99120333	99120333	+	Missense_Mutation	SNP	C	C	T	rs116818150		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:99120333C>T	ENST00000370992.4	-	31	3721	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	RRP12_ENST00000414986.1_Missense_Mutation_p.E1143K|RRP12_ENST00000315563.6_Missense_Mutation_p.E1104K|RRP12_ENST00000536831.1_Missense_Mutation_p.E922K|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1204						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCAGCTCCTCCTCCTCAGCC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19274	0.0		0.0	False		,,,				2504	0.0					ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3610-3612)Gag>Aag		ribosomal RNA processing 12 homolog (S. cerevisiae)		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	179.0	153.0	162.0		3427,3610	5.4	0.4	10	dbSNP_132	162	0,8600		0,0,4300	no	missense,missense	RRP12	NM_001145114.1,NM_015179.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	1143/1237,1204/1298	99120333	1,13005	2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99120333C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3610G>A	10.37:g.99120333C>T	ENSP00000360031:p.Glu1204Lys					RRP12_ENST00000414986.1_Missense_Mutation_p.E1143K|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.E1104K|RRP12_ENST00000536831.1_Missense_Mutation_p.E922K	p.E1204K	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	31	3721	-		Colorectal(252;0.162)	1204					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3610G>A	CCDS7457.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.86	3.714062	0.68730	2.27E-4	0.0	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.30714	1.52;1.55;1.55;1.53	5.44	5.44	0.79542	.	0.269591	0.41194	D	0.000930	T	0.33235	0.0856	L	0.41710	1.295	0.34839	D	0.740514	P;B;P;B	0.48503	0.701;0.006;0.911;0.011	B;B;P;B	0.49999	0.309;0.016;0.628;0.013	T	0.17561	-1.0365	10	0.09590	T	0.72	-12.5374	15.9672	0.79984	0.0:1.0:0.0:0.0	.	1143;1104;922;1204	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	K	1204;1104;1143;922	ENSP00000360031:E1204K;ENSP00000324315:E1104K;ENSP00000414863:E1143K;ENSP00000446184:E922K	ENSP00000324315:E1104K	E	-	1	0	RRP12	99110323	0.960000	0.32886	0.438000	0.26821	0.530000	0.34684	4.032000	0.57274	2.532000	0.85374	0.462000	0.41574	GAG		0.557	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		10	108	0	0	0	1	0	10	108				
THBS3	7059	broad.mit.edu	37	1	155167915	155167915	+	Missense_Mutation	SNP	G	G	T	rs149484793	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:155167915G>T	ENST00000368378.3	-	18	2191	c.2171C>A	c.(2170-2172)aCg>aAg	p.T724K	THBS3_ENST00000541990.1_Missense_Mutation_p.T253K|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.T604K|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.T121K|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	724					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T724M(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGAAAATCCGTAAGCGTTAC	0.547																																						ENST00000368378.3																			1	Substitution - Missense(1)	p.T724M(1)	prostate(1)	breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2170-2172)aCg>aAg		thrombospondin 3							161.0	133.0	142.0					1																	155167915		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155167915G>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2171C>A	1.37:g.155167915G>T	ENSP00000357362:p.Thr724Lys					THBS3_ENST00000457183.2_Missense_Mutation_p.T604K|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.T121K|THBS3_ENST00000541990.1_Missense_Mutation_p.T253K|THBS3_ENST00000487250.1_5'UTR	p.T724K	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		18	2191	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		724					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2171C>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739066	0.89573	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	D	0.97158	0.9071	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.97724	1.0198	10	0.87932	D	0	-7.0642	15.9977	0.80265	0.0:0.0:1.0:0.0	.	604;724;724;724	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	K	724;121;604;253	ENSP00000357362:T724K;ENSP00000444792:T121K;ENSP00000392207:T604K;ENSP00000437353:T253K	ENSP00000357362:T724K	T	-	2	0	THBS3	153434539	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.657000	0.98554	2.639000	0.89480	0.563000	0.77884	ACG		0.547	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		20	74	1	0	5.03518e-11	1	5.30841e-11	20	74				
LY6G5C	80741	broad.mit.edu	37	6	31646965	31646965	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:31646965C>T	ENST00000383237.4	-	2	205	c.202G>A	c.(202-204)Gag>Aag	p.E68K	LY6G5C_ENST00000375860.2_Missense_Mutation_p.E66K|LY6G5C_ENST00000375858.3_Missense_Mutation_p.E65K|LY6G5C_ENST00000474395.1_5'UTR			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	68	UPAR/Ly6.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						TCCTTGGTCTCCAAGAGGCAT	0.522																																						ENST00000375858.3																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						c.(193-195)Gag>Aag		lymphocyte antigen 6 complex, locus G5C							236.0	213.0	221.0					6																	31646965		1511	2709	4220	SO:0001583	missense	80741					extracellular region		g.chr6:31646965C>T		CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.202G>A	6.37:g.31646965C>T	ENSP00000372724:p.Glu68Lys					LY6G5C_ENST00000383237.4_Missense_Mutation_p.E68K|LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_Missense_Mutation_p.E66K	p.E65K	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN			2	201	-			68			UPAR/Ly6.		A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	Missense_Mutation	SNP	ENST00000383237.4	37	c.193G>A	CCDS34401.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.352287|4.352287	0.82132|0.82132	.|.	.|.	ENSG00000204428|ENSG00000204428	ENST00000375860;ENST00000375858;ENST00000383237|ENST00000375863	D;D;D|.	0.85861|.	-2.04;-2.04;-2.04|.	3.46|3.46	3.46|3.46	0.39613|0.39613	.|.	0.000000|.	0.33235|.	N|.	0.005139|.	T|.	0.38825|.	0.1055|.	L|L	0.34521|0.34521	1.04|1.04	0.39107|0.39107	D|D	0.961405|0.961405	D|.	0.64830|.	0.994|.	P|.	0.54965|.	0.765|.	T|.	0.24476|.	-1.0159|.	10|.	0.87932|.	D|.	0|.	-2.1746|-2.1746	10.6226|10.6226	0.45489|0.45489	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	68|.	Q5SRR4|.	LY65C_HUMAN|.	K|X	66;65;68|142	ENSP00000365020:E66K;ENSP00000365018:E65K;ENSP00000372724:E68K|.	ENSP00000365018:E65K|.	E|W	-|-	1|3	0|0	LY6G5C|LY6G5C	31754944|31754944	0.999000|0.999000	0.42202|0.42202	0.992000|0.992000	0.48379|0.48379	0.971000|0.971000	0.66376|0.66376	3.021000|3.021000	0.49651|0.49651	1.943000|1.943000	0.56356|0.56356	0.462000|0.462000	0.41574|0.41574	GAG|TGG		0.522	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076473.4			8	225	0	0	0	1	0	8	225				
NLRP14	338323	broad.mit.edu	37	11	7064664	7064664	+	Silent	SNP	C	C	T	rs186808803	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:7064664C>T	ENST00000299481.4	+	4	1753	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	469	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.D469D(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTCAGAAGGACGCAGAGTATG	0.408													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21424	0.0		0.0	False		,,,				2504	0.0					ENST00000299481.4																			1	Substitution - coding silent(1)	p.D469D(1)	pancreas(1)	breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1405-1407)gaC>gaT		NLR family, pyrin domain containing 14							103.0	106.0	105.0					11																	7064664		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064664C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1407C>T	11.37:g.7064664C>T							p.D469D	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1753	+			469			NACHT.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.1407C>T	CCDS7776.1																																																																																				0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		8	108	0	0	0	1	0	8	108				
SLC13A1	6561	broad.mit.edu	37	7	122774542	122774542	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:122774542A>G	ENST00000194130.2	-	8	893	c.854T>C	c.(853-855)tTt>tCt	p.F285S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	285					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGAAAACGTAAACCATGATCC	0.433																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(853-855)tTt>tCt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						186.0	148.0	161.0					7																	122774542		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122774542A>G		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.854T>C	7.37:g.122774542A>G	ENSP00000194130:p.Phe285Ser					SLC13A1_ENST00000539873.1_3'UTR	p.F285S	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			8	893	-			285					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.854T>C	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465667	0.63513	.	.	ENSG00000081800	ENST00000194130	T	0.03635	3.86	5.59	5.59	0.84812	.	0.051375	0.85682	D	0.000000	T	0.25791	0.0628	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.13045	-1.0524	10	0.87932	D	0	-22.7014	14.0113	0.64498	1.0:0.0:0.0:0.0	.	285;285	A4D0X1;Q9BZW2	.;S13A1_HUMAN	S	285	ENSP00000194130:F285S	ENSP00000194130:F285S	F	-	2	0	SLC13A1	122561778	1.000000	0.71417	0.935000	0.37517	0.391000	0.30476	7.039000	0.76544	2.257000	0.74773	0.460000	0.39030	TTT		0.433	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		5	39	0	0	0	1	0	5	39				
KALRN	8997	broad.mit.edu	37	3	124380773	124380773	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:124380773G>C	ENST00000291478.5	+	12	1412	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	KALRN_ENST00000459915.1_Missense_Mutation_p.E206Q|KALRN_ENST00000428018.2_Missense_Mutation_p.E385Q|KALRN_ENST00000393496.1_Missense_Mutation_p.E455Q|KALRN_ENST00000360013.3_Missense_Mutation_p.E2114Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2113					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGGGCTTTGAGGTGAGTCT	0.502																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6340-6342)Gag>Cag		kalirin, RhoGEF kinase							163.0	143.0	150.0					3																	124380773		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124380773G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1249G>C	3.37:g.124380773G>C	ENSP00000291478:p.Glu417Gln					KALRN_ENST00000393496.1_Missense_Mutation_p.E455Q|KALRN_ENST00000291478.4_Missense_Mutation_p.E417Q|KALRN_ENST00000428018.2_Missense_Mutation_p.E385Q|KALRN_ENST00000459915.1_Missense_Mutation_p.E206Q	p.E2114Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			45	6467	+			2113					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6340G>C	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.62|17.62	3.434982|3.434982	0.62955|0.62955	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915|ENST00000354186	T;T;T;T;T|.	0.64991|.	-0.13;-0.13;-0.13;-0.13;-0.13|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Dbl homology (DH) domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72898|0.72898	0.3518|0.3518	L|L	0.59967|0.59967	1.855|1.855	0.50467|0.50467	D|D	0.999872|0.999872	B;D;D;P|.	0.89917|.	0.423;0.997;1.0;0.764|.	B;D;D;B|.	0.79108|.	0.09;0.971;0.992;0.186|.	T|T	0.69636|0.69636	-0.5092|-0.5092	10|5	0.51188|.	T|.	0.08|.	.|.	19.12|19.12	0.93358|0.93358	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	206;417;455;2113|.	E7EUZ8;C9JQ37;O60229-5;O60229|.	.;.;.;KALRN_HUMAN|.	Q|F	2114;455;417;385;206|2082	ENSP00000353109:E2114Q;ENSP00000377134:E455Q;ENSP00000291478:E417Q;ENSP00000402419:E385Q;ENSP00000420318:E206Q|.	ENSP00000291478:E417Q|.	E|L	+|+	1|3	0|2	KALRN|KALRN	125863463|125863463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.634000|0.634000	0.38068|0.38068	9.657000|9.657000	0.98554|0.98554	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAG|TTG		0.502	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		22	103	0	0	0	1	0	22	103				
TCOF1	6949	broad.mit.edu	37	5	149775923	149775923	+	Nonsense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:149775923C>G	ENST00000504761.2	+	24	3860	c.3860C>G	c.(3859-3861)tCa>tGa	p.S1287*	TCOF1_ENST00000439160.2_Nonsense_Mutation_p.S1250*|TCOF1_ENST00000451292.1_Nonsense_Mutation_p.S1324*|TCOF1_ENST00000513346.1_Nonsense_Mutation_p.S1287*|TCOF1_ENST00000377797.3_Nonsense_Mutation_p.S1288*|TCOF1_ENST00000323668.7_Nonsense_Mutation_p.S1210*|TCOF1_ENST00000445265.2_Nonsense_Mutation_p.S1211*			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1287					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAAGCCTCAACCCTGGCG	0.607																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3970-3972)tCa>tGa		Treacher Collins-Franceschetti syndrome 1							48.0	53.0	52.0					5																	149775923		2203	4300	6503	SO:0001587	stop_gained	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149775923C>G		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3860C>G	5.37:g.149775923C>G	ENSP00000421655:p.Ser1287*					TCOF1_ENST00000445265.2_Nonsense_Mutation_p.S1211*|TCOF1_ENST00000513346.1_Nonsense_Mutation_p.S1287*|TCOF1_ENST00000504761.2_Nonsense_Mutation_p.S1287*|TCOF1_ENST00000323668.7_Nonsense_Mutation_p.S1210*|TCOF1_ENST00000377797.3_Nonsense_Mutation_p.S1288*|TCOF1_ENST00000439160.2_Nonsense_Mutation_p.S1250*	p.S1324*			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	4079	+		all_hematologic(541;0.224)	1287					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Nonsense_Mutation	SNP	ENST00000504761.2	37	c.3971C>G	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484637	0.96323	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	.	.	.	4.8	2.85	0.33270	.	0.228596	0.22637	N	0.057519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-5.3209	5.7048	0.17903	0.0:0.694:0.2005:0.1055	.	.	.	.	X	1324;1288;1211;1210;1250;1249;1287;1287	.	ENSP00000325223:S1210X	S	+	2	0	TCOF1	149756116	0.049000	0.20398	0.087000	0.20705	0.054000	0.15201	0.972000	0.29409	1.339000	0.45563	0.561000	0.74099	TCA		0.607	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		21	94	0	0	0	1	0	21	94				
KCNQ4	9132	broad.mit.edu	37	1	41303411	41303411	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:41303411C>T	ENST00000347132.5	+	13	1902	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	607	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.A607V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CCCTCCGACGCGGAGGTGGTG	0.627																																						ENST00000347132.5																			1	Substitution - Missense(1)	p.A607V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(1819-1821)gCg>gTg		potassium voltage-gated channel, KQT-like subfamily, member 4							55.0	49.0	51.0					1																	41303411		2202	4300	6502	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41303411C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1820C>T	1.37:g.41303411C>T	ENSP00000262916:p.Ala607Val					KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V|KCNQ4_ENST00000506017.1_3'UTR	p.A607V	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		13	1902	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	607			A-domain (Tetramerization).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1820C>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381716	0.24944	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99619	-6.28;-6.28	4.85	1.95	0.26073	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.852454	0.10672	N	0.647448	D	0.97826	0.9286	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.20550	0.012;0.046	B;B	0.15052	0.009;0.012	D	0.96273	0.9200	10	0.28530	T	0.3	-0.5687	6.8325	0.23917	0.0:0.6161:0.0:0.3839	.	553;607	P56696-2;P56696	.;KCNQ4_HUMAN	V	607;553	ENSP00000262916:A607V;ENSP00000423756:A553V	ENSP00000262916:A607V	A	+	2	0	KCNQ4	41075998	0.000000	0.05858	0.090000	0.20809	0.815000	0.46073	0.306000	0.19279	0.131000	0.18576	0.407000	0.27541	GCG		0.627	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		8	18	0	0	0	1	0	8	18				
ADRA2C	152	broad.mit.edu	37	4	3768924	3768924	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:3768924C>T	ENST00000330055.5	+	1	800	c.591C>T	c.(589-591)gcC>gcT	p.A197A	ADRA2C_ENST00000509482.1_Silent_p.A197A	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	197					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGACGGCGCCGCCTACCCGC	0.677																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(589-591)gcC>gcT		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						18.0	19.0	19.0					4																	3768924		2189	4293	6482	SO:0001819	synonymous_variant	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768924C>T	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.591C>T	4.37:g.3768924C>T						ADRA2C_ENST00000509482.1_Silent_p.A197A	p.A197A	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	800	+			197					P35369|Q9HB49	Silent	SNP	ENST00000330055.5	37	c.591C>T	CCDS47004.1																																																																																				0.677	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	21	0	0	0	1	0	3	21				
CACNA2D1	781	broad.mit.edu	37	7	81593596	81593596	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:81593596G>C	ENST00000356253.5	-	33	2945	c.2690C>G	c.(2689-2691)tCt>tGt	p.S897C	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S885C|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S97C			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	897					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATAATCATAAGATTTGTTAAA	0.388																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2653-2655)tCt>tGt		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						92.0	91.0	91.0					7																	81593596		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81593596G>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2690C>G	7.37:g.81593596G>C	ENSP00000348589:p.Ser897Cys					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S897C|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S97C	p.S885C	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			33	2992	-			897					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2654C>G		.	.	.	.	.	.	.	.	.	.	G	22.4	4.278916	0.80692	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.76839	-1.05;-1.05;-1.05	5.5	5.5	0.81552	.	0.053759	0.85682	D	0.000000	D	0.87748	0.6255	M	0.70275	2.135	0.51767	D	0.999938	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.967	D	0.87022	0.2129	10	0.49607	T	0.09	-17.3148	19.7466	0.96253	0.0:0.0:1.0:0.0	.	97;885	B7Z658;P54289-2	.;.	C	885;904;897;97	ENSP00000349320:S885C;ENSP00000348589:S897C;ENSP00000443124:S97C	ENSP00000284088:S904C	S	-	2	0	CACNA2D1	81431532	1.000000	0.71417	0.964000	0.40570	0.886000	0.51366	8.907000	0.92634	2.740000	0.93945	0.650000	0.86243	TCT		0.388	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				13	64	0	0	0	1	0	13	64				
TMEM121	80757	broad.mit.edu	37	14	105995411	105995411	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:105995411C>T	ENST00000392519.2	+	2	404	c.240C>T	c.(238-240)ttC>ttT	p.F80F	TMEM121_ENST00000431372.1_Silent_p.F80F	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	80						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		TCCTGTGGTTCCTTTACATCT	0.662																																						ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(238-240)ttC>ttT		transmembrane protein 121							87.0	86.0	86.0					14																	105995411		2203	4299	6502	SO:0001819	synonymous_variant	80757					integral to membrane		g.chr14:105995411C>T		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.240C>T	14.37:g.105995411C>T						TMEM121_ENST00000431372.1_Silent_p.F80F	p.F80F	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	404	+		Melanoma(154;0.226)	80						Silent	SNP	ENST00000392519.2	37	c.240C>T	CCDS10006.1																																																																																				0.662	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		5	29	0	0	0	1	0	5	29				
TTN	7273	broad.mit.edu	37	2	179476184	179476184	+	Silent	SNP	A	A	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:179476184A>G	ENST00000591111.1	-	219	46073	c.45849T>C	c.(45847-45849)taT>taC	p.Y15283Y	TTN_ENST00000342175.6_Silent_p.Y8051Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.Y7984Y|TTN_ENST00000589042.1_Silent_p.Y16924Y|TTN_ENST00000460472.2_Silent_p.Y7859Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.Y14356Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15283	Fibronectin type-III 11. {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)			CTCTCAGGACATATTCTTTGT	0.438																																						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.(50770-50772)taT>taC		titin							101.0	99.0	100.0					2																	179476184		2020	4191	6211	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476184A>G	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.45849T>C	2.37:g.179476184A>G						TTN_ENST00000460472.2_Silent_p.Y7859Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.Y15283Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.Y7984Y|TTN_ENST00000342175.6_Silent_p.Y8051Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.Y14356Y	p.Y16924Y	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)		269	50996	-			15283			Fibronectin type-III 22.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.50772T>C																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	49	0	0	0	1	0	17	49				
HDAC4	9759	broad.mit.edu	37	2	239976475	239976475	+	Missense_Mutation	SNP	G	G	A	rs201219118		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:239976475G>A	ENST00000345617.3	-	25	3834	c.3043C>T	c.(3043-3045)Cgt>Tgt	p.R1015C	HDAC4_ENST00000543185.1_Missense_Mutation_p.R599C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1015	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCCATGGAACGGACAGCGTTT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		5697	0.0		0.001	False		,,,				2504	0.0					ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(3043-3045)Cgt>Tgt		histone deacetylase 4		G	CYS/ARG	0,4406		0,0,2203	144.0	133.0	137.0		3043	4.3	0.9	2		137	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HDAC4	NM_006037.3	180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	1015/1085	239976475	4,13002	2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239976475G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.3043C>T	2.37:g.239976475G>A	ENSP00000264606:p.Arg1015Cys					HDAC4_ENST00000543185.1_Missense_Mutation_p.R599C	p.R1015C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	25	3834	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	1015			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.3043C>T	CCDS2529.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.39	1.923294	0.33908	0.0	4.65E-4	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.43688	0.94;0.94	4.34	4.34	0.51931	Histone deacetylase domain (1);Arb2 domain (1);	0.340840	0.30210	N	0.010152	T	0.39963	0.1098	L	0.47190	1.495	0.43103	D	0.994792	B;B	0.23806	0.025;0.091	B;B	0.26969	0.011;0.075	T	0.38023	-0.9680	10	0.51188	T	0.08	.	15.9211	0.79575	0.0:0.0:1.0:0.0	.	983;1015	Q53SM2;P56524	.;HDAC4_HUMAN	C	1015;903;599	ENSP00000264606:R1015C;ENSP00000440481:R599C	ENSP00000264606:R1015C	R	-	1	0	HDAC4	239641412	1.000000	0.71417	0.920000	0.36463	0.511000	0.34104	5.130000	0.64745	2.336000	0.79503	0.655000	0.94253	CGT		0.507	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		26	102	0	0	0	1	0	26	102				
ORC3	23595	broad.mit.edu	37	6	88367727	88367727	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:88367727G>A	ENST00000392844.3	+	16	1730	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	ORC3_ENST00000257789.4_Missense_Mutation_p.C562Y|ORC3_ENST00000417380.2_3'UTR|ORC3_ENST00000546266.1_Missense_Mutation_p.C418Y	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	561					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTCATTGACTGTCTAGTGAGG	0.338																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(1681-1683)tGt>tAt		origin recognition complex, subunit 3							69.0	68.0	68.0					6																	88367727		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88367727G>A	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1682G>A	6.37:g.88367727G>A	ENSP00000376586:p.Cys561Tyr					ORC3_ENST00000257789.4_Missense_Mutation_p.C562Y|ORC3_ENST00000417380.2_3'UTR|ORC3_ENST00000546266.1_Missense_Mutation_p.C418Y	p.C561Y	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			16	1730	+			561					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.1682G>A	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784966	0.31593	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.10960	3.18;3.16;2.82	5.12	-1.73	0.08081	.	0.596299	0.19210	N	0.119955	T	0.01800	0.0057	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.25563	0.019;0.079;0.129	B;B;B	0.33750	0.007;0.055;0.169	T	0.43556	-0.9384	10	0.66056	D	0.02	-1.9145	6.9672	0.24629	0.2258:0.3437:0.4304:0.0	.	499;561;562	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	Y	561;562;418	ENSP00000376586:C561Y;ENSP00000257789:C562Y;ENSP00000444695:C418Y	ENSP00000257789:C562Y	C	+	2	0	ORC3	88424446	0.837000	0.29446	0.720000	0.30636	0.954000	0.61252	1.031000	0.30165	-0.020000	0.14032	-0.262000	0.10625	TGT		0.338	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			16	36	0	0	0	1	0	16	36				
ZMIZ1	57178	broad.mit.edu	37	10	81050825	81050825	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:81050825C>T	ENST00000334512.5	+	10	1222	c.650C>T	c.(649-651)gCg>gTg	p.A217V	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	217					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCACAGTTTGCGGGGCAGCAG	0.637																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(649-651)gCg>gTg		zinc finger, MIZ-type containing 1							88.0	78.0	81.0					10																	81050825		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050825C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.650C>T	10.37:g.81050825C>T	ENSP00000334474:p.Ala217Val					ZMIZ1_ENST00000478357.1_3'UTR	p.A217V	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1222	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		217					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.650C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226463	0.58668	.	.	ENSG00000108175	ENST00000334512;ENST00000360331	T	0.30714	1.52	5.67	5.67	0.87782	.	0.000000	0.41294	D	0.000916	T	0.22589	0.0545	L	0.29908	0.895	0.80722	D	1	P;B	0.47106	0.89;0.037	B;B	0.33890	0.172;0.007	T	0.02625	-1.1132	10	0.30854	T	0.27	-2.5181	19.7667	0.96346	0.0:1.0:0.0:0.0	.	127;217	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	V	217;147	ENSP00000334474:A217V	ENSP00000334474:A217V	A	+	2	0	ZMIZ1	80720831	1.000000	0.71417	0.994000	0.49952	0.804000	0.45430	4.621000	0.61233	2.681000	0.91329	0.655000	0.94253	GCG		0.637	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		4	142	0	0	0	1	0	4	142				
BRD9	65980	broad.mit.edu	37	5	878569	878569	+	Missense_Mutation	SNP	G	G	A	rs141776263		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:878569G>A	ENST00000467963.1	-	11	1338	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	BRD9_ENST00000388890.4_Missense_Mutation_p.S275L|BRD9_ENST00000323510.4_Missense_Mutation_p.S295L|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Missense_Mutation_p.S338L	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	391					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ATTCTGCATCGAAAGCGCAGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		29812	0.0		0.001	False		,,,				2504	0.0					ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(883-885)tCg>tTg		bromodomain containing 9		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	110.0	93.0	99.0		1013,1172	4.6	0.0	5	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BRD9	NM_001009877.2,NM_023924.4	145,145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	338/545,391/598	878569	2,13004	2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:878569G>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1172C>T	5.37:g.878569G>A	ENSP00000419765:p.Ser391Leu					BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.S275L|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Missense_Mutation_p.S338L|BRD9_ENST00000467963.1_Missense_Mutation_p.S391L	p.S295L			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		8	883	-			391					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.884C>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	g	14.67	2.604387	0.46423	2.27E-4	1.16E-4	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.42	4.56	0.56223	.	0.109289	0.64402	D	0.000006	T	0.57417	0.2052	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.65815	0.995;0.974;0.989;0.982;0.982	P;P;P;P;P	0.54499	0.754;0.593;0.488;0.503;0.503	T	0.62572	-0.6826	10	0.87932	D	0	.	14.058	0.64781	0.0735:0.0:0.9265:0.0	.	338;391;69;295;275	B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.;.	L	295;275;69;338;391	ENSP00000323557:S295L;ENSP00000373542:S275L;ENSP00000419845:S338L;ENSP00000419765:S391L	ENSP00000323557:S295L	S	-	2	0	BRD9	931569	0.999000	0.42202	0.017000	0.16124	0.042000	0.13812	3.587000	0.53957	1.300000	0.44818	-0.119000	0.15052	TCG		0.567	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		22	181	0	0	0	1	0	22	181				
FAT1	2195	broad.mit.edu	37	4	187540437	187540437	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:187540437G>A	ENST00000441802.2	-	10	7512	c.7303C>T	c.(7303-7305)Cat>Tat	p.H2435Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2435	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAATGTTTATGATCATTGCCA	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7303-7305)Cat>Tat		FAT atypical cadherin 1							106.0	111.0	109.0					4																	187540437		2035	4188	6223	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540437G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7303C>T	4.37:g.187540437G>A	ENSP00000406229:p.His2435Tyr	HNSCC(5;0.00058)					p.H2435Y	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7512	-			2435			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7303C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354410	0.24512	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01725	4.67	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.388428	0.30686	N	0.009099	T	0.02727	0.0082	L	0.31371	0.925	0.34708	D	0.727472	B	0.30526	0.283	B	0.37888	0.26	T	0.50154	-0.8861	10	0.56958	D	0.05	.	14.9292	0.70903	0.0:0.1426:0.8574:0.0	.	2435	Q14517	FAT1_HUMAN	Y	2435;2437	ENSP00000406229:H2435Y	ENSP00000260147:H2437Y	H	-	1	0	FAT1	187777431	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	4.653000	0.61462	2.890000	0.99128	0.650000	0.86243	CAT		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		27	65	0	0	0	1	0	27	65				
FOXK1	221937	broad.mit.edu	37	7	4798948	4798948	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:4798948C>T	ENST00000328914.4	+	7	1418	c.1418C>T	c.(1417-1419)cCc>cTc	p.P473L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P310L	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCAGGCTCCCCCGTCAGCGCC	0.736																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1417-1419)cCc>cTc		forkhead box K1							14.0	17.0	16.0					7																	4798948		2186	4281	6467	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4798948C>T	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1418C>T	7.37:g.4798948C>T	ENSP00000328720:p.Pro473Leu					FOXK1_ENST00000446823.1_Missense_Mutation_p.P310L	p.P473L	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	7	1418	+		Ovarian(82;0.0175)	473						Missense_Mutation	SNP	ENST00000328914.4	37	c.1418C>T	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796446	0.70567	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.97279	-4.12;-4.32	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98093	0.9371	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.929	D	0.98897	1.0775	10	0.72032	D	0.01	.	18.6004	0.91247	0.0:1.0:0.0:0.0	.	473;310	P85037;P85037-2	FOXK1_HUMAN;.	L	310;229;473;356	ENSP00000394442:P310L;ENSP00000328720:P473L	ENSP00000328720:P473L	P	+	2	0	FOXK1	4765474	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	7.439000	0.80444	2.713000	0.92767	0.655000	0.94253	CCC		0.736	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			6	31	0	0	0	1	0	6	31				
MTSS1L	92154	broad.mit.edu	37	16	70698221	70698221	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:70698221G>A	ENST00000338779.6	-	15	1877	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	535					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GAGGCTGGGCGCTTGGTCTGG	0.716																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1603-1605)Cgc>Tgc		metastasis suppressor 1-like							29.0	30.0	30.0					16																	70698221		2196	4298	6494	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698221G>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1603C>T	16.37:g.70698221G>A	ENSP00000341171:p.Arg535Cys					FLJ00418_ENST00000597002.1_5'UTR	p.R535C	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			15	1877	-			535					A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.1603C>T	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592863	0.66219	.	.	ENSG00000132613	ENST00000338779	T	0.73469	-0.75	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	M	0.77820	2.39	0.52099	D	0.999942	D	0.89917	1.0	D	0.97110	1.0	D	0.88102	0.2820	10	0.62326	D	0.03	-21.0869	16.2017	0.82087	0.0:0.0:1.0:0.0	.	535	Q765P7	MTSSL_HUMAN	C	535	ENSP00000341171:R535C	ENSP00000341171:R535C	R	-	1	0	MTSS1L	69255722	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.125000	0.64715	1.879000	0.54435	0.462000	0.41574	CGC		0.716	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		13	33	0	0	0	1	0	13	33				
FLG2	388698	broad.mit.edu	37	1	152324225	152324225	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:152324225C>T	ENST00000388718.5	-	3	6109	c.6037G>A	c.(6037-6039)Gga>Aga	p.G2013R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2013					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGACTGTCCATGACCAGAG	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6037-6039)Gga>Aga		filaggrin family member 2							393.0	362.0	372.0					1																	152324225		2201	4300	6501	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324225C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6037G>A	1.37:g.152324225C>T	ENSP00000373370:p.Gly2013Arg					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G2013R	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6109	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2013					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6037G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734059	0.30684	.	.	ENSG00000143520	ENST00000388718	T	0.53206	0.63	4.63	0.0772	0.14407	.	.	.	.	.	T	0.17238	0.0414	M	0.72894	2.215	0.09310	N	1	B	0.31611	0.331	B	0.25884	0.064	T	0.16512	-1.0400	9	0.19590	T	0.45	-0.5287	3.6348	0.08145	0.0:0.4363:0.1892:0.3746	.	2013	Q5D862	FILA2_HUMAN	R	2013	ENSP00000373370:G2013R	ENSP00000373370:G2013R	G	-	1	0	FLG2	150590849	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.392000	0.20801	0.152000	0.19188	0.478000	0.44815	GGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		111	353	0	0	0	1	0	111	353				
CFAP43	80217	broad.mit.edu	37	10	105905260	105905260	+	Silent	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:105905260G>C	ENST00000357060.3	-	31	4033	c.3918C>G	c.(3916-3918)ctC>ctG	p.L1306L	WDR96_ENST00000428666.1_Silent_p.L1278L	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGTTTGTAGAGTATATCCA	0.368																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3916-3918)ctC>ctG		WD repeat domain 96							63.0	63.0	63.0					10																	105905260		2203	4299	6502	SO:0001819	synonymous_variant	80217							g.chr10:105905260G>C																												ENST00000357060.3:c.3918C>G	10.37:g.105905260G>C						WDR96_ENST00000428666.1_Silent_p.L1278L	p.L1306L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			31	4033	-			1306						Silent	SNP	ENST00000357060.3	37	c.3918C>G	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.209722	0.01555	.	.	ENSG00000197748	ENST00000457071;ENST00000434629	.	.	.	5.57	1.66	0.24008	.	.	.	.	.	T	0.44829	0.1312	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22695	-1.0209	4	.	.	.	.	2.698	0.05140	0.2005:0.2368:0.4435:0.1193	.	.	.	.	C	155;638	.	.	S	-	2	0	WDR96	105895250	1.000000	0.71417	0.993000	0.49108	0.085000	0.17905	0.673000	0.25203	0.055000	0.16094	-1.886000	0.00541	TCT		0.368	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	15	0	0	0	1	0	11	15				
HMGB2	3148	broad.mit.edu	37	4	174254706	174254706	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:174254706G>C	ENST00000296503.5	-	2	968	c.95C>G	c.(94-96)cCg>cGg	p.P32R	HMGB2_ENST00000446922.2_Missense_Mutation_p.P32R|HMGB2_ENST00000438704.2_Missense_Mutation_p.P32R			P26583	HMGB2_HUMAN	high mobility group box 2	32					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGAAGAGTCCGGGTGTTTCTT	0.562																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(94-96)cCg>cGg		high mobility group box 2							98.0	97.0	97.0					4																	174254706		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254706G>C		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.95C>G	4.37:g.174254706G>C	ENSP00000296503:p.Pro32Arg					HMGB2_ENST00000446922.2_Missense_Mutation_p.P32R|HMGB2_ENST00000438704.2_Missense_Mutation_p.P32R	p.P32R			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	2	968	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	32					B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.95C>G	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618653	0.66787	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.45	4.6	0.57074	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.180812	0.38436	N	0.001684	T	0.34164	0.0888	M	0.92507	3.315	0.80722	D	1	B	0.09022	0.002	B	0.20184	0.028	T	0.38564	-0.9655	10	0.87932	D	0	.	15.7669	0.78135	0.0:0.1369:0.8631:0.0	.	32	P26583	HMGB2_HUMAN	R	32	ENSP00000296503:P32R;ENSP00000393448:P32R;ENSP00000404912:P32R;ENSP00000423001:P32R	ENSP00000296503:P32R	P	-	2	0	HMGB2	174491281	1.000000	0.71417	0.072000	0.20136	0.114000	0.19823	9.505000	0.97989	1.272000	0.44329	0.563000	0.77884	CCG		0.562	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		18	68	0	0	0	1	0	18	68				
LRP2	4036	broad.mit.edu	37	2	170063464	170063464	+	Missense_Mutation	SNP	C	C	T	rs143262722	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:170063464C>T	ENST00000263816.3	-	39	7051	c.6766G>A	c.(6766-6768)Gat>Aat	p.D2256N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2256					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GCAATTATATCTAAAGAATCA	0.438																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6766-6768)Gat>Aat		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						140.0	140.0	140.0					2																	170063464		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063464C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6766G>A	2.37:g.170063464C>T	ENSP00000263816:p.Asp2256Asn						p.D2256N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7051	-			2256					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6766G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854039	0.91355	.	.	ENSG00000081479	ENST00000263816	D	0.91068	-2.78	5.89	5.02	0.67125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94763	0.7938	10	0.56958	D	0.05	.	15.1523	0.72709	0.0:0.9324:0.0:0.0676	.	2256	P98164	LRP2_HUMAN	N	2256	ENSP00000263816:D2256N	ENSP00000263816:D2256N	D	-	1	0	LRP2	169771710	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	7.818000	0.86416	1.495000	0.48549	0.655000	0.94253	GAT		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		29	123	0	0	0	1	0	29	123				
HTT	3064	broad.mit.edu	37	4	3105592	3105592	+	Silent	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:3105592C>G	ENST00000355072.5	+	4	655	c.510C>G	c.(508-510)ctC>ctG	p.L170L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	170					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCTCGAGCTCTATAAGGAAA	0.323																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(508-510)ctC>ctG		huntingtin							161.0	144.0	150.0					4																	3105592		1807	4071	5878	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3105592C>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.510C>G	4.37:g.3105592C>G							p.L170L	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	4	655	+		all_epithelial(65;0.18)	170					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.510C>G	CCDS43206.1																																																																																				0.323	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		17	94	0	0	0	1	0	17	94				
HIST1H4H	8365	broad.mit.edu	37	6	26285504	26285504	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:26285504T>C	ENST00000377727.1	-	1	233	c.224A>G	c.(223-225)gAg>gGg	p.E75G	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.E75G	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	75					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						TTTGGCGTGCTCTGTGTAAGT	0.547										HNSCC(76;0.23)																												ENST00000289352.1																			0				lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						c.(223-225)gAg>gGg		histone cluster 1, H4h							180.0	146.0	157.0					6																	26285504		2203	4300	6503	SO:0001583	missense	8365				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26285504T>C	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"""Histones / Replication-dependent"""	4788	protein-coding gene	gene with protein product		602828	"""H4 histone family, member H"", ""histone 1, H4h"""	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.224A>G	6.37:g.26285504T>C	ENSP00000366956:p.Glu75Gly	HNSCC(76;0.23)				HIST1H4H_ENST00000377727.1_Missense_Mutation_p.E75G	p.E75G			P62805	H4_HUMAN			1	258	-			75					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377727.1	37	c.224A>G	CCDS4604.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456820	0.63401	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	T;T	0.70164	-0.46;-0.46	4.4	4.4	0.53042	.	0.000000	0.51477	U	0.000084	T	0.68495	0.3007	.	.	.	0.40613	D	0.98169	.	.	.	.	.	.	T	0.74166	-0.3753	7	0.72032	D	0.01	.	11.8938	0.52646	0.0:0.0:0.0:1.0	.	.	.	.	G	75	ENSP00000289352:E75G;ENSP00000366956:E75G	ENSP00000289352:E75G	E	-	2	0	HIST1H4H	26393483	1.000000	0.71417	0.995000	0.50966	0.008000	0.06430	7.920000	0.87521	1.770000	0.52166	0.402000	0.26972	GAG		0.547	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		18	66	0	0	0	1	0	18	66				
PNMA2	10687	broad.mit.edu	37	8	26366192	26366192	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:26366192G>A	ENST00000522362.2	-	3	974	c.80C>T	c.(79-81)cCg>cTg	p.P27L	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	27					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aaagtccgccggtatccccgt	0.512																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(79-81)cCg>cTg		paraneoplastic Ma antigen 2							152.0	140.0	144.0					8																	26366192		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26366192G>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.80C>T	8.37:g.26366192G>A	ENSP00000429344:p.Pro27Leu						p.P27L	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	974	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	27					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.80C>T	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735369	0.30774	.	.	ENSG00000240694	ENST00000522362	T	0.19669	2.13	3.77	3.77	0.43336	.	.	.	.	.	T	0.27832	0.0685	M	0.77616	2.38	0.20307	N	0.999911	D	0.63880	0.993	B	0.42245	0.381	T	0.30387	-0.9980	9	0.87932	D	0	-8.2453	11.3945	0.49834	0.0:0.0:1.0:0.0	.	27	Q9UL42	PNMA2_HUMAN	L	27	ENSP00000429344:P27L	ENSP00000429344:P27L	P	-	2	0	PNMA2	26422109	0.920000	0.31207	0.088000	0.20740	0.079000	0.17450	2.291000	0.43540	2.389000	0.81357	0.563000	0.77884	CCG		0.512	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		33	101	0	0	0	1	0	33	101				
HEATR6	63897	broad.mit.edu	37	17	58150579	58150579	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:58150579G>C	ENST00000184956.6	-	4	546	c.530C>G	c.(529-531)tCt>tGt	p.S177C	HEATR6_ENST00000585976.1_Missense_Mutation_p.S177C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	177							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCAGGATCAGACTGAGCCAA	0.433																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(529-531)tCt>tGt		HEAT repeat containing 6							118.0	109.0	112.0					17																	58150579		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58150579G>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.530C>G	17.37:g.58150579G>C	ENSP00000184956:p.Ser177Cys					HEATR6_ENST00000585976.1_Missense_Mutation_p.S177C	p.S177C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		4	546	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		177					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.530C>G	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308219	0.60305	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.46063	0.88	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.227351	0.45126	D	0.000398	T	0.47021	0.1423	L	0.54323	1.7	0.31479	N	0.66743	P;P	0.51791	0.876;0.948	B;P	0.46362	0.241;0.514	T	0.56312	-0.8000	10	0.48119	T	0.1	-3.514	18.0686	0.89398	0.0:0.0:1.0:0.0	.	24;177	E7ESB9;Q6AI08	.;HEAT6_HUMAN	C	177;24	ENSP00000184956:S177C	ENSP00000184956:S177C	S	-	2	0	HEATR6	55505361	0.987000	0.35691	0.997000	0.53966	0.795000	0.44927	7.058000	0.76676	2.591000	0.87537	0.478000	0.44815	TCT		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		16	56	0	0	0	1	0	16	56				
FKTN	2218	broad.mit.edu	37	9	108370142	108370142	+	Silent	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:108370142C>G	ENST00000223528.2	+	6	814	c.690C>G	c.(688-690)ctC>ctG	p.L230L	FKTN_ENST00000357998.5_Silent_p.L230L|FKTN_ENST00000602661.1_Silent_p.L230L|FKTN_ENST00000540160.1_Silent_p.L230L|FKTN_ENST00000448551.2_Silent_p.L230L	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	230					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TGGAAGTTCTCATTCCAAAGG	0.413																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(688-690)ctC>ctG		fukutin							125.0	122.0	123.0					9																	108370142		2203	4300	6503	SO:0001819	synonymous_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108370142C>G		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.690C>G	9.37:g.108370142C>G						FKTN_ENST00000357998.5_Silent_p.L230L|FKTN_ENST00000448551.2_Silent_p.L230L|FKTN_ENST00000540160.1_Silent_p.L230L|FKTN_ENST00000602661.1_Silent_p.L230L	p.L230L	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			6	814	+			230					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	c.690C>G	CCDS6766.1																																																																																				0.413	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		11	63	0	0	0	1	0	11	63				
MAP2K5	5607	broad.mit.edu	37	15	68040920	68040920	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:68040920T>A	ENST00000178640.5	+	19	1742	c.1115T>A	c.(1114-1116)cTg>cAg	p.L372Q	MAP2K5_ENST00000395476.2_Missense_Mutation_p.L362Q|MAP2K5_ENST00000340972.4_Missense_Mutation_p.L182Q|MAP2K5_ENST00000354498.5_Missense_Mutation_p.L336Q	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						CTCCAGCTTCTGCAGTGCATT	0.383																																						ENST00000178640.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						c.(1114-1116)cTg>cAg		mitogen-activated protein kinase kinase 5							132.0	112.0	119.0					15																	68040920		2200	4298	6498	SO:0001583	missense	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:68040920T>A	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.1115T>A	15.37:g.68040920T>A	ENSP00000178640:p.Leu372Gln					MAP2K5_ENST00000340972.4_Missense_Mutation_p.L182Q|MAP2K5_ENST00000354498.5_Missense_Mutation_p.L336Q|MAP2K5_ENST00000395476.2_Missense_Mutation_p.L362Q	p.L372Q	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN			19	1742	+			372			Protein kinase.		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	c.1115T>A	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162735	0.57368	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.67700	2.07	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.996	P;P;D	0.75484	0.891;0.774;0.986	T	0.01879	-1.1255	10	0.87932	D	0	-16.1338	16.5885	0.84745	0.0:0.0:0.0:1.0	.	182;362;372	A6NK28;Q13163-2;Q13163	.;.;MP2K5_HUMAN	Q	362;362;372;336;182	ENSP00000378859:L362Q;ENSP00000178640:L372Q;ENSP00000346493:L336Q;ENSP00000342101:L182Q	ENSP00000178640:L372Q	L	+	2	0	MAP2K5	65827974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	CTG		0.383	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		14	42	0	0	0	1	0	14	42				
MYO1F	4542	broad.mit.edu	37	19	8601169	8601169	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:8601169C>T	ENST00000338257.8	-	19	2277	c.2010G>A	c.(2008-2010)ggG>ggA	p.G670G		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	670	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTTGGTGCTCCCCATCTGGT	0.612																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2008-2010)ggG>ggA		myosin IF							79.0	80.0	80.0					19																	8601169		2008	4202	6210	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601169C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2010G>A	19.37:g.8601169C>T							p.G670G	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			19	2277	-			670			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.2010G>A	CCDS42494.1																																																																																				0.612	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			18	89	0	0	0	1	0	18	89				
KRT23	25984	broad.mit.edu	37	17	39086251	39086251	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:39086251C>G	ENST00000209718.3	-	4	1001	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	KRT23_ENST00000436344.3_Missense_Mutation_p.E56Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	193	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ACCTCCTGTTCTAGGTCTGTT	0.458																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(577-579)Gaa>Caa		keratin 23 (histone deacetylase inducible)							280.0	209.0	233.0					17																	39086251		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39086251C>G	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.577G>C	17.37:g.39086251C>G	ENSP00000209718:p.Glu193Gln					KRT23_ENST00000436344.3_Missense_Mutation_p.E56Q|AC004231.2_ENST00000418393.1_RNA	p.E193Q	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			4	1001	-		Breast(137;0.000301)|Ovarian(249;0.15)	193			Coil 1B.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.577G>C	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227724	0.58668	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.92397	-3.03;-3.03	5.74	5.74	0.90152	Filament (1);	0.000000	0.56097	D	0.000037	D	0.96537	0.8870	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96587	0.9435	10	0.87932	D	0	.	19.9303	0.97116	0.0:1.0:0.0:0.0	.	193	Q9C075	K1C23_HUMAN	Q	193;56	ENSP00000209718:E193Q;ENSP00000414056:E56Q	ENSP00000209718:E193Q	E	-	1	0	KRT23	36339777	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.815000	0.86186	2.714000	0.92807	0.460000	0.39030	GAA		0.458	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			20	92	0	0	0	1	0	20	92				
TLN1	7094	broad.mit.edu	37	9	35733425	35733425	+	5'Flank	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:35733425G>A	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Silent_p.E126E	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGATGAGGAGAAGAGTCTAT	0.483																																						ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(376-378)gaG>gaA		cAMP responsive element binding protein 3							102.0	93.0	96.0					9																	35733425		2203	4300	6503	SO:0001631	upstream_gene_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35733425G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733425G>A	Exception_encountered					CREB3_ENST00000486056.1_3'UTR	p.E126E	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	4	816	+	all_epithelial(49;0.167)		150					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.378G>A	CCDS35009.1																																																																																				0.483	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		113	328	0	0	0	1	0	113	328				
CHST12	55501	broad.mit.edu	37	7	2472402	2472402	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:2472402C>T	ENST00000258711.6	+	2	263	c.128C>T	c.(127-129)cCg>cTg	p.P43L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	43					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TTCTCTAGGCCGCACACGGGG	0.642																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(127-129)cCg>cTg		carbohydrate (chondroitin 4) sulfotransferase 12							52.0	56.0	55.0					7																	2472402		2203	4300	6503	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472402C>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.128C>T	7.37:g.2472402C>T	ENSP00000258711:p.Pro43Leu						p.P43L	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	263	+		Ovarian(82;0.0253)	43					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.128C>T	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591061	0.28357	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.64438	-0.1;0.7	4.94	4.94	0.65067	.	1.297700	0.05580	N	0.572796	T	0.69531	0.3121	M	0.73962	2.25	0.80722	D	1	D	0.58620	0.983	B	0.41174	0.349	T	0.71758	-0.4496	10	0.87932	D	0	-1.3789	18.2181	0.89893	0.0:1.0:0.0:0.0	.	43	Q9NRB3	CHSTC_HUMAN	L	43	ENSP00000258711:P43L;ENSP00000411207:P43L	ENSP00000258711:P43L	P	+	2	0	CHST12	2438928	0.982000	0.34865	0.736000	0.30914	0.446000	0.32137	2.567000	0.45956	2.300000	0.77407	0.555000	0.69702	CCG		0.642	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		4	170	0	0	0	1	0	4	170				
MEGF8	1954	broad.mit.edu	37	19	42839327	42839327	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:42839327C>T	ENST00000251268.6	+	4	699	c.699C>T	c.(697-699)ggC>ggT	p.G233G	MEGF8_ENST00000334370.4_Silent_p.G233G	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	233					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCAGCTGGCGCCTTCCTGT	0.657																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(697-699)ggC>ggT		multiple EGF-like-domains 8							28.0	35.0	33.0					19																	42839327		2022	4170	6192	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42839327C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.699C>T	19.37:g.42839327C>T						MEGF8_ENST00000251268.6_Silent_p.G233G	p.G233G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			4	1334	+		Prostate(69;0.00682)	233					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.699C>T																																																																																					0.657	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		3	32	0	0	0	1	0	3	32				
TRPA1	8989	broad.mit.edu	37	8	72946534	72946534	+	Silent	SNP	G	G	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:72946534G>T	ENST00000262209.4	-	22	2841	c.2634C>A	c.(2632-2634)atC>atA	p.I878I	TRPA1_ENST00000519720.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	878					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAAGAAGGAAGATAAATACAA	0.308																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2632-2634)atC>atA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						78.0	80.0	80.0					8																	72946534		2203	4297	6500	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72946534G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2634C>A	8.37:g.72946534G>T						RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.I878I	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		22	2841	-			878					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2634C>A	CCDS34908.1																																																																																				0.308	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		15	55	1	0	1.5739e-10	1	1.64654e-10	15	55				
CEMIP	57214	broad.mit.edu	37	15	81188376	81188376	+	Silent	SNP	C	C	T	rs369462089		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:81188376C>T	ENST00000394685.3	+	12	1805	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	KIAA1199_ENST00000356249.5_Silent_p.C462C|KIAA1199_ENST00000220244.3_Silent_p.C462C|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		462	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCAGATCCTGCGCCCCCAACC	0.463																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1384-1386)tgC>tgT		KIAA1199		C		0,4406		0,0,2203	115.0	106.0	109.0		1386	-7.2	0.0	15		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1199	NM_018689.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		462/1362	81188376	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57214							g.chr15:81188376C>T																												ENST00000394685.3:c.1386C>T	15.37:g.81188376C>T						KIAA1199_ENST00000356249.5_Silent_p.C462C|KIAA1199_ENST00000220244.3_Silent_p.C462C	p.C462C			Q8WUJ3	K1199_HUMAN			12	1805	+			462					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	c.1386C>T	CCDS10315.1																																																																																				0.463	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			4	92	0	0	0	1	0	4	92				
ZNF214	7761	broad.mit.edu	37	11	7021988	7021988	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:7021988C>A	ENST00000278314.4	-	3	1241	c.926G>T	c.(925-927)gGt>gTt	p.G309V	ZNF214_ENST00000536068.1_Missense_Mutation_p.G309V|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAAGCTCTTACCACATGCATT	0.408																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(925-927)gGt>gTt		zinc finger protein 214							122.0	124.0	124.0					11																	7021988		2200	4295	6495	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021988C>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.926G>T	11.37:g.7021988C>A	ENSP00000278314:p.Gly309Val					ZNF214_ENST00000536068.1_Missense_Mutation_p.G309V	p.G309V	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1241	-			309					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.926G>T	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877984	0.33162	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.59906	0.23;0.23	3.46	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.303035	0.24035	N	0.042143	T	0.79125	0.4393	H	0.95043	3.615	0.48288	D	0.999622	D	0.76494	0.999	D	0.66084	0.941	T	0.82170	-0.0590	10	0.87932	D	0	.	9.3247	0.37986	0.0:0.8905:0.0:0.1094	.	309	Q9UL59	ZN214_HUMAN	V	309	ENSP00000278314:G309V;ENSP00000445373:G309V	ENSP00000278314:G309V	G	-	2	0	ZNF214	6978564	0.946000	0.32159	0.997000	0.53966	0.598000	0.36846	0.787000	0.26858	1.033000	0.39918	-0.126000	0.14955	GGT		0.408	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			17	102	1	0	1.02788e-11	1	1.09213e-11	17	102				
SV2A	9900	broad.mit.edu	37	1	149882448	149882448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:149882448C>T	ENST00000369146.3	-	4	1375	c.885G>A	c.(883-885)tgG>tgA	p.W295*	SV2A_ENST00000369145.1_Nonsense_Mutation_p.W295*	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	295					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACATGCAGAGCCAGCTCAAAT	0.547																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(883-885)tgG>tgA		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						64.0	61.0	62.0					1																	149882448		2203	4300	6503	SO:0001587	stop_gained	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149882448C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.885G>A	1.37:g.149882448C>T	ENSP00000358142:p.Trp295*					SV2A_ENST00000369145.1_Nonsense_Mutation_p.W295*	p.W295*	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		4	1375	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		295					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Nonsense_Mutation	SNP	ENST00000369146.3	37	c.885G>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	41	8.597206	0.98879	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2331	15.8174	0.78615	0.0:1.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000358141:W295X	W	-	3	0	SV2A	148149072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.591000	0.87537	0.585000	0.79938	TGG		0.547	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			13	49	0	0	0	1	0	13	49				
LHX9	56956	broad.mit.edu	37	1	197889125	197889125	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:197889125G>A	ENST00000367387.4	+	2	623	c.198G>A	c.(196-198)gaG>gaA	p.E66E	LHX9_ENST00000337020.2_Silent_p.E66E|LHX9_ENST00000367390.3_Silent_p.E57E|LHX9_ENST00000367391.1_Silent_p.E57E|LHX9_ENST00000561173.1_Silent_p.E72E	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	66					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TCAGCCCGGAGAAGCCCGCCC	0.657																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(169-171)gaG>gaA		LIM homeobox 9							68.0	80.0	76.0					1																	197889125		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197889125G>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.198G>A	1.37:g.197889125G>A						LHX9_ENST00000367391.1_Silent_p.E57E|LHX9_ENST00000561173.1_Silent_p.E72E|LHX9_ENST00000367387.4_Silent_p.E66E|LHX9_ENST00000337020.2_Silent_p.E66E	p.E57E	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			3	198	+			66					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.171G>A	CCDS1393.1																																																																																				0.657	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		48	174	0	0	0	1	0	48	174				
HOXD12	3238	broad.mit.edu	37	2	176964708	176964708	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:176964708C>T	ENST00000406506.2	+	1	251	c.179C>T	c.(178-180)cCc>cTc	p.P60L	HOXD12_ENST00000404162.2_Missense_Mutation_p.P60L			P35452	HXD12_HUMAN	homeobox D12	60					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCCTGCGCCCCCGCGCAGCCT	0.746																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(178-180)cCc>cTc		homeobox D12							7.0	9.0	8.0					2																	176964708		1546	3495	5041	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964708C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.179C>T	2.37:g.176964708C>T	ENSP00000385586:p.Pro60Leu					HOXD12_ENST00000404162.2_Missense_Mutation_p.P60L	p.P60L			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	251	+			60					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.179C>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519327	0.64634	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.33216	1.42;1.42	3.69	3.69	0.42338	.	0.158139	0.40640	N	0.001042	T	0.48714	0.1515	M	0.62723	1.935	0.58432	D	0.999992	D;P	0.89917	1.0;0.954	D;P	0.91635	0.999;0.622	T	0.42155	-0.9468	10	0.45353	T	0.12	.	10.8196	0.46597	0.189:0.811:0.0:0.0	.	60;60	B5MCD3;P35452	.;HXD12_HUMAN	L	60	ENSP00000385586:P60L;ENSP00000385132:P60L	ENSP00000385132:P60L	P	+	2	0	HOXD12	176672954	0.903000	0.30736	0.992000	0.48379	0.976000	0.68499	1.667000	0.37471	2.359000	0.80004	0.655000	0.94253	CCC		0.746	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		10	42	0	0	0	1	0	10	42				
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:31877577C>T	ENST00000396191.1	-	10	1444	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000396184.3_Missense_Mutation_p.R330Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TACCAAGGTTCGAAACTCCCT	0.388																																						ENST00000396184.3																			6	Substitution - Missense(6)	p.R330Q(4)|p.R390Q(2)	lung(6)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(988-990)cGa>cAa		phosphodiesterase 1C, calmodulin-dependent 70kDa							177.0	181.0	180.0					7																	31877577		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31877577C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.989G>A	7.37:g.31877577C>T	ENSP00000379494:p.Arg330Gln					PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R330Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q	p.R330Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		11	1193	-			330			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.989G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250320	0.95305	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.75	5.75	0.90469	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92231	0.7536	H	0.94222	3.51	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.61722	0.869;0.893;0.795	D	0.93834	0.7130	10	0.87932	D	0	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	330;390;330	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	Q	390;330;330;330;330	ENSP00000379496:R390Q;ENSP00000379494:R330Q;ENSP00000318105:R330Q;ENSP00000379487:R330Q;ENSP00000379485:R330Q	ENSP00000318105:R330Q	R	-	2	0	PDE1C	31844102	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.779000	0.85648	2.716000	0.92895	0.655000	0.94253	CGA		0.388	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			10	141	0	0	0	1	0	10	141				
FASTKD2	22868	broad.mit.edu	37	2	207634815	207634815	+	Splice_Site	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:207634815G>A	ENST00000236980.6	+	3	1126	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	FASTKD2_ENST00000403094.3_Splice_Site_p.E260K|FASTKD2_ENST00000402774.3_Splice_Site_p.E260K	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	260					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		ATTTCAATAGGAACGTATCAA	0.363																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.e3-1		FAST kinase domains 2							163.0	149.0	154.0					2																	207634815		2203	4300	6503	SO:0001630	splice_region_variant	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207634815G>A	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.778-1G>A	2.37:g.207634815G>A						FASTKD2_ENST00000402774.3_Splice_Site_p.E260_splice|FASTKD2_ENST00000403094.3_Splice_Site_p.E260_splice	p.E260_splice	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	3	1126	+			260					Q9NVX6|Q9Y2H7	Splice_Site	SNP	ENST00000236980.6	37	c.777_splice	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776454	0.90195	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.16457	2.34;2.34;2.34	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.64042	0.898;0.921	T	0.22452	-1.0216	9	.	.	.	-18.8393	18.3198	0.90234	0.0:0.0:1.0:0.0	.	260;260	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	K	260	ENSP00000236980:E260K;ENSP00000385990:E260K;ENSP00000384929:E260K	.	E	+	1	0	FASTKD2	207343060	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	6.941000	0.75922	2.623000	0.88846	0.591000	0.81541	GAA		0.363	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	Missense_Mutation	7	48	0	0	0	1	0	7	48				
GABRE	2564	broad.mit.edu	37	X	151131017	151131017	+	Silent	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:151131017C>G	ENST00000370328.3	-	4	494	c.441G>C	c.(439-441)gtG>gtC	p.V147V	GABRE_ENST00000370325.1_Silent_p.V147V|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	147					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATAGCTGGCTCACCACATTGC	0.493																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(439-441)gtG>gtC		gamma-aminobutyric acid (GABA) A receptor, epsilon							169.0	136.0	147.0					X																	151131017		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151131017C>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.441G>C	X.37:g.151131017C>G						GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.V147V	p.V147V			P78334	GBRE_HUMAN			4	494	-	Acute lymphoblastic leukemia(192;6.56e-05)		147					E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.441G>C	CCDS14703.1																																																																																				0.493	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		27	131	0	0	0	1	0	27	131				
CHST5	23563	broad.mit.edu	37	16	75563437	75563437	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:75563437C>T	ENST00000336257.3	-	3	2240	c.846G>A	c.(844-846)ccG>ccA	p.P282P	CHST5_ENST00000541075.1_Silent_p.P288P|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	282					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGAAGGGTGGCGGCTTGAGTG	0.711																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(844-846)ccG>ccA		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							33.0	40.0	37.0					16																	75563437		2189	4291	6480	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563437C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.846G>A	16.37:g.75563437C>T						CHST5_ENST00000541075.1_Silent_p.P288P|RP11-77K12.7_ENST00000460606.1_3'UTR	p.P282P	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2240	-			282					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.846G>A	CCDS10919.1																																																																																				0.711	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		4	141	0	0	0	1	0	4	141				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	28	0	0	0	1	0	7	28				
RGL2	5863	broad.mit.edu	37	6	33260843	33260843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:33260843G>A	ENST00000497454.1	-	16	2452	c.1957C>T	c.(1957-1959)Cga>Tga	p.R653*	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	653	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ATCTGGACTCGGATGATACGG	0.592																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(1957-1959)Cga>Tga		ral guanine nucleotide dissociation stimulator-like 2							217.0	247.0	237.0					6																	33260843		2203	4300	6503	SO:0001587	stop_gained	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33260843G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1957C>T	6.37:g.33260843G>A	ENSP00000420211:p.Arg653*					PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	p.R653*	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			16	2452	-			653			Ras-associating.		B4DG72|Q5STK0|Q9Y3F3	Nonsense_Mutation	SNP	ENST00000497454.1	37	c.1957C>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	G	41	9.111983	0.99069	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	.	.	.	4.6	3.72	0.42706	.	0.072806	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9301	0.41517	0.0:0.0:0.7975:0.2025	.	.	.	.	X	653;517	.	ENSP00000400083:R517X	R	-	1	2	RGL2	33368821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.779000	0.47734	1.136000	0.42199	0.643000	0.83706	CGA		0.592	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			6	601	0	0	0	1	0	6	601				
SCN3A	6328	broad.mit.edu	37	2	166019313	166019313	+	Silent	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:166019313C>G	ENST00000360093.3	-	8	1211	c.720G>C	c.(718-720)ctG>ctC	p.L240L	SCN3A_ENST00000283254.7_Silent_p.L240L|SCN3A_ENST00000409101.3_Silent_p.L240L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	240					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCGACTGGATCAGGGCCCCCA	0.458																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(718-720)ctG>ctC		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						116.0	116.0	116.0					2																	166019313		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019313C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.720G>C	2.37:g.166019313C>G						SCN3A_ENST00000409101.3_Silent_p.L240L|SCN3A_ENST00000283254.7_Silent_p.L240L	p.L240L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			8	1211	-			240					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.720G>C																																																																																					0.458	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		30	93	0	0	0	1	0	30	93				
UGT1A1	54658	broad.mit.edu	37	2	234669575	234669575	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:234669575C>T	ENST00000608383.1	+	1	642	c.642C>T	c.(640-642)ctC>ctT	p.L214L	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Silent_p.L214L|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.L214L|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	214					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AGAACATGCTCATTGCCTTTT	0.522																																						ENST00000360418.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(640-642)ctC>ctT			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						184.0	177.0	179.0					2																	234669575		2203	4300	6503	SO:0001819	synonymous_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669575C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.642C>T	2.37:g.234669575C>T						UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Silent_p.L214L	p.L214L			P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	642	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	214					A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37	c.642C>T	CCDS2510.1																																																																																				0.522	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				31	163	0	0	0	1	0	31	163				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	125	0	0	0	1	0	5	125				
OR4K5	79317	broad.mit.edu	37	14	20389326	20389326	+	Silent	SNP	T	T	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:20389326T>G	ENST00000315915.4	+	1	586	c.561T>G	c.(559-561)ctT>ctG	p.L187L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCAAACTTGCCTGCCTGG	0.403																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(559-561)ctT>ctG		olfactory receptor, family 4, subfamily K, member 5							248.0	262.0	257.0					14																	20389326		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389326T>G	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.561T>G	14.37:g.20389326T>G							p.L187L	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	586	+	all_cancers(95;0.00108)		187					Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.561T>G	CCDS32024.1																																																																																				0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		17	350	0	0	0	1	0	17	350				
AKAP9	10142	broad.mit.edu	37	7	91624076	91624076	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:91624076A>T	ENST00000359028.2	+	7	979	c.754A>T	c.(754-756)Att>Ttt	p.I252F	AKAP9_ENST00000356239.3_Missense_Mutation_p.I240F|AKAP9_ENST00000394564.1_Missense_Mutation_p.I240F|AKAP9_ENST00000358100.2_Missense_Mutation_p.I252F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	252	Gln-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAATTACAGATTCAATTTCA	0.274			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(754-756)Att>Ttt		A kinase (PRKA) anchor protein 9							59.0	62.0	61.0					7																	91624076		2203	4295	6498	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91624076A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.754A>T	7.37:g.91624076A>T	ENSP00000351922:p.Ile252Phe					AKAP9_ENST00000394564.1_Missense_Mutation_p.I240F|AKAP9_ENST00000356239.3_Missense_Mutation_p.I240F|AKAP9_ENST00000358100.2_Missense_Mutation_p.I252F	p.I252F			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	979	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		252			Gln-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.754A>T		.	.	.	.	.	.	.	.	.	.	A	15.18	2.758229	0.49468	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.94	3.69	0.42338	.	0.000000	0.36555	N	0.002537	T	0.48943	0.1528	L	0.27053	0.805	0.51767	D	0.999935	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.988;0.976;0.967	T	0.52449	-0.8574	10	0.72032	D	0.01	.	11.6188	0.51104	0.8515:0.1485:0.0:0.0	.	240;240;252;240	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	F	240;252;252;252;252;240;191	ENSP00000348573:I240F;ENSP00000351922:I252F;ENSP00000350813:I252F;ENSP00000378065:I240F;ENSP00000391704:I191F	ENSP00000348573:I240F	I	+	1	0	AKAP9	91462012	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.642000	0.54367	1.977000	0.57605	0.533000	0.62120	ATT		0.274	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		9	42	0	0	0	1	0	9	42				
ARHGEF39	84904	broad.mit.edu	37	9	35664477	35664477	+	Silent	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:35664477G>C	ENST00000378387.3	-	3	363	c.246C>G	c.(244-246)ccC>ccG	p.P82P	ARHGEF39_ENST00000343259.3_Silent_p.P82P|ARHGEF39_ENST00000378395.2_Silent_p.P46P|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	82	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										CTTCCAGGTAGGGAAGCAGCT	0.532																																						ENST00000378387.3																			0											c.(244-246)ccC>ccG		Rho guanine nucleotide exchange factor (GEF) 39							56.0	58.0	57.0					9																	35664477		2203	4300	6503	SO:0001819	synonymous_variant	84904							g.chr9:35664477G>C	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.246C>G	9.37:g.35664477G>C						ARHGEF39_ENST00000343259.3_Silent_p.P82P|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.P46P	p.P82P	NM_032818.2	NP_116207.2					3	363	-								Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	ENST00000378387.3	37	c.246C>G	CCDS6584.2																																																																																				0.532	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		26	1082	0	0	0	1	0	26	1082				
TRPM6	140803	broad.mit.edu	37	9	77431589	77431589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:77431589C>T	ENST00000360774.1	-	11	1541	c.1304G>A	c.(1303-1305)tGg>tAg	p.W435*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W430*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W430*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.W435*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.W435*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W435*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.W435*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	435					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTATACCTTCCAGTGTTGTTC	0.378																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1303-1305)tGg>tAg		transient receptor potential cation channel, subfamily M, member 6							101.0	97.0	99.0					9																	77431589		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77431589C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1304G>A	9.37:g.77431589C>T	ENSP00000354006:p.Trp435*					TRPM6_ENST00000376871.3_Nonsense_Mutation_p.W435*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W430*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.W435*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.W435*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W435*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W430*	p.W435*			Q9BX84	TRPM6_HUMAN			11	1541	-			435					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.1304G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	39	7.570521	0.98365	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4572	0.94897	0.0:1.0:0.0:0.0	.	.	.	.	X	435;435;435;435;430;430;435;98;98	.	ENSP00000309693:W98X	W	-	2	0	TRPM6	76621409	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.774000	0.68906	2.619000	0.88677	0.555000	0.69702	TGG		0.378	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		19	47	0	0	0	1	0	19	47				
FLG	2312	broad.mit.edu	37	1	152285206	152285206	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:152285206C>G	ENST00000368799.1	-	3	2191	c.2156G>C	c.(2155-2157)aGc>aCc	p.S719T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	719	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGAGCTGTCTGCTGA	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2155-2157)aGc>aCc		filaggrin							381.0	391.0	388.0					1																	152285206		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285206C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2156G>C	1.37:g.152285206C>G	ENSP00000357789:p.Ser719Thr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S719T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2191	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		719			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2156G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.412	0.261169	0.10239	.	.	ENSG00000143631	ENST00000368799	T	0.05996	3.36	3.99	2.09	0.27110	.	.	.	.	.	T	0.02571	0.0078	M	0.69823	2.125	0.09310	N	1	B	0.17667	0.023	B	0.18263	0.021	T	0.45963	-0.9225	9	0.14252	T	0.57	.	10.2949	0.43618	0.0:0.6096:0.3904:0.0	.	719	P20930	FILA_HUMAN	T	719	ENSP00000357789:S719T	ENSP00000357789:S719T	S	-	2	0	FLG	150551830	0.000000	0.05858	0.029000	0.17559	0.001000	0.01503	-1.164000	0.03135	0.348000	0.23949	-0.345000	0.07892	AGC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	808	0	0	0	1	0	7	808				
PDPR	55066	broad.mit.edu	37	16	70187310	70187310	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:70187310A>G	ENST00000288050.4	+	18	3026	c.2069A>G	c.(2068-2070)tAc>tGc	p.Y690C	PDPR_ENST00000542659.1_Missense_Mutation_p.Y35C|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.Y590C|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.Y48C|PDPR_ENST00000568530.1_Missense_Mutation_p.Y690C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	690					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGCATGTATACAATGAAGTG	0.468																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2068-2070)tAc>tGc		pyruvate dehydrogenase phosphatase regulatory subunit							110.0	110.0	110.0					16																	70187310		1974	4174	6148	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187310A>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2069A>G	16.37:g.70187310A>G	ENSP00000288050:p.Tyr690Cys					PDPR_ENST00000567046.1_Missense_Mutation_p.Y48C|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.Y590C|PDPR_ENST00000542659.1_Missense_Mutation_p.Y35C|PDPR_ENST00000568530.1_Missense_Mutation_p.Y690C	p.Y690C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3026	+			690					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2069A>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571299	0.86542	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	T;T;T	0.75477	-0.94;-0.94;-0.94	5.74	5.74	0.90152	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88973	0.6583	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91290	0.5058	10	0.87932	D	0	.	15.511	0.75782	1.0:0.0:0.0:0.0	.	690	Q8NCN5	PDPR_HUMAN	C	690;590;35	ENSP00000288050:Y690C;ENSP00000381190:Y590C;ENSP00000441690:Y35C	ENSP00000288050:Y690C	Y	+	2	0	PDPR	68744811	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	9.255000	0.95524	2.317000	0.78254	0.459000	0.35465	TAC		0.468	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		6	40	0	0	0	1	0	6	40				
MANBA	4126	broad.mit.edu	37	4	103647819	103647819	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:103647819C>A	ENST00000226578.4	-	2	298	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	MANBA_ENST00000505239.1_Missense_Mutation_p.D67Y	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	67					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAGTTAAGGTCATTAAATCTG	0.279																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(199-201)Gac>Tac		mannosidase, beta A, lysosomal							90.0	95.0	94.0					4																	103647819		2203	4296	6499	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103647819C>A		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.199G>T	4.37:g.103647819C>A	ENSP00000226578:p.Asp67Tyr					MANBA_ENST00000505239.1_Missense_Mutation_p.D67Y	p.D67Y	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	2	298	-		Hepatocellular(203;0.217)	67					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.199G>T	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097288	0.76870	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.73047	-0.71;0.53	5.51	4.62	0.57501	Galactose-binding domain-like (1);	0.047145	0.85682	D	0.000000	D	0.86636	0.5980	M	0.90870	3.155	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.89234	0.3579	10	0.87932	D	0	-23.4154	13.5304	0.61619	0.0:0.9207:0.0:0.0793	.	67;67	E9PFW2;O00462	.;MANBA_HUMAN	Y	67	ENSP00000226578:D67Y;ENSP00000427322:D67Y	ENSP00000226578:D67Y	D	-	1	0	MANBA	103866863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.936000	0.63506	1.221000	0.43506	0.655000	0.94253	GAC		0.279	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			11	59	1	0	5.50884e-06	1	5.67577e-06	11	59				
MACF1	23499	broad.mit.edu	37	1	39838217	39838217	+	Silent	SNP	T	T	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:39838217T>C	ENST00000372915.3	+	51	13264	c.13177T>C	c.(13177-13179)Tta>Cta	p.L4393L	MACF1_ENST00000317713.7_Silent_p.L2326L|MACF1_ENST00000545844.1_Silent_p.L2326L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Silent_p.L2326L|MACF1_ENST00000567887.1_Silent_p.L4425L|MACF1_ENST00000289893.4_Silent_p.L2828L|MACF1_ENST00000539005.1_Silent_p.L2326L|MACF1_ENST00000564288.1_Silent_p.L4388L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4393					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGTACTTCTTTAGAAAATCT	0.383																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13162-13164)Tta>Cta		microtubule-actin crosslinking factor 1							71.0	72.0	72.0					1																	39838217		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39838217T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13177T>C	1.37:g.39838217T>C						MACF1_ENST00000545844.1_Silent_p.L2326L|MACF1_ENST00000567887.1_Silent_p.L4425L|MACF1_ENST00000372915.3_Silent_p.L4393L|MACF1_ENST00000361689.2_Silent_p.L2326L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.L2326L|MACF1_ENST00000289893.4_Silent_p.L2828L|MACF1_ENST00000317713.7_Silent_p.L2326L	p.L4388L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		52	13939	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4393	C -> Y (in Ref. 1; BAA83821).				B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.13162T>C		.	.	.	.	.	.	.	.	.	.	T	9.947	1.219155	0.22373	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	T	0.59905	0.2228	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59910	-0.7365	4	.	.	.	.	8.3326	0.32195	0.0:0.1498:0.0:0.8502	.	.	.	.	S	1459	.	.	F	+	2	0	MACF1	39610804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.986000	0.40677	2.258000	0.74832	0.529000	0.55759	TTT		0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	41	0	0	0	1	0	15	41				
UBN2	254048	broad.mit.edu	37	7	138968054	138968054	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:138968054G>A	ENST00000473989.3	+	15	2403	c.2403G>A	c.(2401-2403)ctG>ctA	p.L801L	UBN2_ENST00000288561.8_Silent_p.L718L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	801						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCCAGGACTGAGAGAAGAAA	0.433																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2152-2154)ctG>ctA		ubinuclein 2							82.0	84.0	83.0					7																	138968054		1905	4121	6026	SO:0001819	synonymous_variant	254048							g.chr7:138968054G>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2403G>A	7.37:g.138968054G>A						UBN2_ENST00000473989.2_Silent_p.L801L	p.L718L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	2403	+			801					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.2154G>A	CCDS43655.2																																																																																				0.433	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		14	67	0	0	0	1	0	14	67				
MUC16	94025	broad.mit.edu	37	19	9066224	9066224	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:9066224G>A	ENST00000397910.4	-	3	21425	c.21222C>T	c.(21220-21222)ctC>ctT	p.L7074L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7076	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGCTCATGAGAGTGGTCA	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21220-21222)ctC>ctT		mucin 16, cell surface associated							123.0	122.0	122.0					19																	9066224		1964	4153	6117	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066224G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21222C>T	19.37:g.9066224G>A							p.L7074L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21425	-			7076			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21222C>T	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		22	71	0	0	0	1	0	22	71				
CACNG7	59284	broad.mit.edu	37	19	54416154	54416154	+	Silent	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:54416154G>C	ENST00000391767.1	+	2	281	c.69G>C	c.(67-69)ctG>ctC	p.L23L	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Silent_p.L23L|CACNG7_ENST00000222212.2_Silent_p.L23L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	23					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTGCTCCTGGTAGGCATCG	0.652																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(67-69)ctG>ctC		calcium channel, voltage-dependent, gamma subunit 7							70.0	54.0	60.0					19																	54416154		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416154G>C	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.69G>C	19.37:g.54416154G>C						CACNG7_ENST00000391766.1_Silent_p.L23L|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Silent_p.L23L	p.L23L			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	2	281	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		23					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.69G>C	CCDS12868.1																																																																																				0.652	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			4	49	0	0	0	1	0	4	49				
NFATC2	4773	broad.mit.edu	37	20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr20:50048903G>A	ENST00000396009.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000609507.1_Missense_Mutation_p.S589L|NFATC2_ENST00000371564.3_Missense_Mutation_p.S808L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S788L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S589L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	808					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S808L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647																																						ENST00000371564.3																		EWSR1/NFATC2(9)	2	Substitution - Missense(2)	p.S808L(2)	lung(2)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2422-2424)tCg>tTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							47.0	50.0	49.0					20																	50048903		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048903G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2423C>T	20.37:g.50048903G>A	ENSP00000379330:p.Ser808Leu					NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S808L	p.S808L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2642	-	Hepatocellular(150;0.248)		808					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2423C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780159	0.49891	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18960	2.19;2.18;2.21	5.45	5.45	0.79879	.	0.135690	0.50627	D	0.000108	T	0.15003	0.0362	L	0.36672	1.1	0.48901	D	0.999727	P;P;D;P	0.54601	0.931;0.913;0.967;0.931	B;B;B;B	0.34489	0.081;0.17;0.173;0.184	T	0.12400	-1.0549	10	0.11794	T	0.64	-4.4372	19.296	0.94122	0.0:0.0:1.0:0.0	.	788;788;808;808	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	808;808;788	ENSP00000360619:S808L;ENSP00000379330:S808L;ENSP00000396471:S788L	ENSP00000360619:S808L	S	-	2	0	NFATC2	49482310	1.000000	0.71417	0.903000	0.35520	0.152000	0.21847	9.452000	0.97615	2.563000	0.86464	0.650000	0.86243	TCG		0.647	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		29	94	0	0	0	1	0	29	94				
BRWD3	254065	broad.mit.edu	37	X	79939569	79939569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:79939569A>T	ENST00000373275.4	-	37	4389	c.4173T>A	c.(4171-4173)taT>taA	p.Y1391*	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1391	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAACATCCTTATAAAATTCCA	0.353																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4171-4173)taT>taA		bromodomain and WD repeat domain containing 3							85.0	80.0	82.0					X																	79939569		2202	4297	6499	SO:0001587	stop_gained	254065							g.chrX:79939569A>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4173T>A	X.37:g.79939569A>T	ENSP00000362372:p.Tyr1391*					BRWD3_ENST00000473691.1_Intron	p.Y1391*	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			37	4389	-			1391			Bromo 2.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.4173T>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	45	11.329761	0.99547	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.66	3.46	0.39613	.	0.366513	0.28268	N	0.015971	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9188	6.3953	0.21609	0.7311:0.0:0.2689:0.0	.	.	.	.	X	1391	.	.	Y	-	3	2	BRWD3	79826225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.258000	0.51507	0.601000	0.29879	0.408000	0.27601	TAT		0.353	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		16	40	0	0	0	1	0	16	40				
ZNF257	113835	broad.mit.edu	37	19	22271732	22271732	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:22271732C>A	ENST00000594947.1	+	4	1324	c.1180C>A	c.(1180-1182)Cat>Aat	p.H394N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAGAATTCATACTAGAGA	0.363																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1180-1182)Cat>Aat		zinc finger protein 257							39.0	45.0	43.0					19																	22271732		2098	4241	6339	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271732C>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1180C>A	19.37:g.22271732C>A	ENSP00000470209:p.His394Asn						p.H394N	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	1324	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	394					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1180C>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	8.841	0.942265	0.18281	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76335	0.3973	H	0.94620	3.56	0.26989	N	0.965194	D	0.67145	0.996	D	0.72075	0.976	T	0.64972	-0.6281	8	0.72032	D	0.01	.	9.0461	0.36347	0.0:1.0:0.0:0.0	.	394	Q9Y2Q1	ZN257_HUMAN	N	394;366	.	ENSP00000380312:H366N	H	+	1	0	ZNF257	22063572	0.993000	0.37304	0.645000	0.29479	0.530000	0.34684	3.598000	0.54038	0.518000	0.28383	0.313000	0.20887	CAT		0.363	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			8	23	1	0	0.00307968	1	0.00310249	8	23				
ATXN1	6310	broad.mit.edu	37	6	16327207	16327207	+	Silent	SNP	C	C	T	rs34794258		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:16327207C>T	ENST00000244769.4	-	8	2271	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	ATXN1_ENST00000436367.1_Silent_p.P445P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	445					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCAGTCCCACCGGGAGTGGCT	0.627																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1333-1335)ccG>ccA		ataxin 1							113.0	120.0	118.0					6																	16327207		2203	4300	6503	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327207C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1335G>A	6.37:g.16327207C>T						ATXN1_ENST00000436367.1_Silent_p.P445P	p.P445P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2271	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	445					Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.1335G>A	CCDS34342.1																																																																																				0.627	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		5	243	0	0	0	1	0	5	243				
CMSS1	84319	broad.mit.edu	37	3	99536833	99536833	+	Missense_Mutation	SNP	G	G	A	rs142737434		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:99536833G>A	ENST00000421999.2	+	1	156	c.10G>A	c.(10-12)Gat>Aat	p.D4N	CMSS1_ENST00000496116.1_3'UTR	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	4							poly(A) RNA binding (GO:0044822)										AATGGCAGACGATCTCGGAGA	0.652																																						ENST00000421999.2																			0											c.(10-12)Gat>Aat		cms1 ribosomal small subunit homolog (yeast)		G	ASN/ASP	0,4406		0,0,2203	49.0	43.0	45.0		10	4.2	1.0	3	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf26	NM_032359.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	4/280	99536833	1,13005	2203	4300	6503	SO:0001583	missense	84319							g.chr3:99536833G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.10G>A	3.37:g.99536833G>A	ENSP00000410396:p.Asp4Asn					CMSS1_ENST00000496116.1_3'UTR	p.D4N	NM_032359.3	NP_115735.2					1	156	+								A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	ENST00000421999.2	37	c.10G>A	CCDS2935.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021650	0.54576	0.0	1.16E-4	ENSG00000184220	ENST00000421999	T	0.39229	1.09	5.09	4.21	0.49690	.	0.286703	0.36665	N	0.002466	T	0.33847	0.0877	L	0.48642	1.525	0.80722	D	1	B	0.18310	0.027	B	0.09377	0.004	T	0.14504	-1.0470	10	0.39692	T	0.17	.	9.3757	0.38281	0.0964:0.0:0.9036:0.0	.	4	Q9BQ75	CC026_HUMAN	N	4	ENSP00000410396:D4N	ENSP00000410396:D4N	D	+	1	0	C3orf26	101019523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.851000	0.55926	1.506000	0.48736	0.655000	0.94253	GAT		0.652	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		14	41	0	0	0	1	0	14	41				
SLITRK3	22865	broad.mit.edu	37	3	164908602	164908602	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:164908602G>C	ENST00000475390.1	-	2	460	c.17C>G	c.(16-18)gCt>gGt	p.A6G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A6G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	6					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A6V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGCATCTCAGCTATGGAAGG	0.383										HNSCC(40;0.11)																												ENST00000475390.1																			1	Substitution - Missense(1)	p.A6V(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(16-18)gCt>gGt		SLIT and NTRK-like family, member 3							64.0	58.0	60.0					3																	164908602		2191	4277	6468	SO:0001583	missense	22865					integral to membrane		g.chr3:164908602G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.17C>G	3.37:g.164908602G>C	ENSP00000420091:p.Ala6Gly	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.A6G	p.A6G			O94933	SLIK3_HUMAN			2	460	-			6					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.17C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214046	0.39102	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.70045	0.58;0.58;-0.45	5.49	5.49	0.81192	.	0.654113	0.12668	N	0.449033	T	0.49338	0.1551	N	0.08118	0	0.45261	D	0.998269	P	0.34522	0.455	B	0.25759	0.063	T	0.55360	-0.8153	10	0.54805	T	0.06	-2.8078	19.553	0.95330	0.0:0.0:1.0:0.0	.	6	O94933	SLIK3_HUMAN	G	6	ENSP00000420091:A6G;ENSP00000241274:A6G;ENSP00000419611:A6G	ENSP00000241274:A6G	A	-	2	0	SLITRK3	166391296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.794000	0.75135	2.860000	0.98153	0.655000	0.94253	GCT		0.383	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		9	69	0	0	0	1	0	9	69				
CLPX	10845	broad.mit.edu	37	15	65447200	65447200	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:65447200C>T	ENST00000300107.3	-	11	1719	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	511					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGTGTTTTCTCATCTAGGCTA	0.413																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(1531-1533)Gag>Aag		caseinolytic mitochondrial matrix peptidase chaperone subunit							132.0	106.0	115.0					15																	65447200		2202	4299	6501	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65447200C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1531G>A	15.37:g.65447200C>T	ENSP00000300107:p.Glu511Lys						p.E511K	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			11	1719	-			511					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.1531G>A	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702818	0.88924	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.44083	0.93	6.06	6.06	0.98353	Clp ATPase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.49778	1.585	0.80722	D	1	B	0.24317	0.101	B	0.37091	0.241	T	0.38499	-0.9658	10	0.46703	T	0.11	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	511	O76031	CLPX_HUMAN	K	511	ENSP00000300107:E511K	ENSP00000300107:E511K	E	-	1	0	CLPX	63234253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GAG		0.413	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		8	30	0	0	0	1	0	8	30				
CHUK	1147	broad.mit.edu	37	10	101954212	101954212	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:101954212C>T	ENST00000370397.7	-	17	1882	c.1796G>A	c.(1795-1797)cGt>cAt	p.R599H	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	599					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTTGAGCACACGGTCCTGACT	0.408																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(1795-1797)cGt>cAt		conserved helix-loop-helix ubiquitous kinase							109.0	88.0	95.0					10																	101954212		2203	4300	6503	SO:0001583	missense	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101954212C>T	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1796G>A	10.37:g.101954212C>T	ENSP00000359424:p.Arg599His					CHUK_ENST00000590930.1_5'UTR	p.R599H	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	17	1882	-		Colorectal(252;0.117)	599					O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	c.1796G>A	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416640	0.83449	.	.	ENSG00000213341	ENST00000370397	T	0.25250	1.81	5.69	3.85	0.44370	.	0.058013	0.64402	D	0.000003	T	0.38612	0.1047	M	0.63843	1.955	0.49299	D	0.999774	D	0.71674	0.998	P	0.56088	0.791	T	0.12400	-1.0549	10	0.51188	T	0.08	-12.9238	10.5176	0.44898	0.0:0.842:0.0:0.158	.	599	O15111	IKKA_HUMAN	H	599	ENSP00000359424:R599H	ENSP00000359424:R599H	R	-	2	0	CHUK	101944202	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	5.583000	0.67484	0.770000	0.33336	0.462000	0.41574	CGT		0.408	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		9	25	0	0	0	1	0	9	25				
PCDHA4	56144	broad.mit.edu	37	5	140186911	140186911	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:140186911C>T	ENST00000530339.1	+	1	139	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R47C|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R47C|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGCATCGCGCA	0.657																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(139-141)Cgc>Tgc									54.0	61.0	59.0					5																	140186911		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140186911C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.139C>T	5.37:g.140186911C>T	ENSP00000435300:p.Arg47Cys					PCDHA4_ENST00000356878.4_Missense_Mutation_p.R47C|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R47C|PCDHA1_ENST00000394633.3_Intron	p.R47C	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	139	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.139C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	19.38	3.816563	0.70912	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.28069	1.63;1.63;1.63	4.73	3.8	0.43715	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.40640	U	0.001042	T	0.59715	0.2214	M	0.88704	2.975	0.40812	D	0.983433	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.983;0.996;0.996	T	0.69053	-0.5247	10	0.87932	D	0	.	12.7971	0.57565	0.2801:0.7199:0.0:0.0	.	47;47;47	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	C	47	ENSP00000423470:R47C;ENSP00000349344:R47C;ENSP00000435300:R47C	ENSP00000349344:R47C	R	+	1	0	PCDHA4	140167095	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	0.131000	0.15870	2.369000	0.80426	0.461000	0.40582	CGC		0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		22	140	0	0	0	1	0	22	140				
ASIC3	9311	broad.mit.edu	37	7	150749682	150749682	+	Silent	SNP	C	C	T	rs370089221		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:150749682C>T	ENST00000349064.5	+	11	1737	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	ASIC3_ENST00000357922.4_Missense_Mutation_p.R494C|ASIC3_ENST00000297512.8_Missense_Mutation_p.P520L	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	513					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CTCCCTGTGCCGTCACCAAGA	0.632																																						ENST00000357922.4																			0											c.(1480-1482)Cgt>Tgt		acid-sensing (proton-gated) ion channel 3							183.0	131.0	149.0					7																	150749682		2203	4300	6503	SO:0001819	synonymous_variant	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150749682C>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1539C>T	7.37:g.150749682C>T						ASIC3_ENST00000349064.5_Silent_p.A513A|ASIC3_ENST00000297512.8_Missense_Mutation_p.P520L	p.R494C	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			10	2074	+			493					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.1480C>T	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.009|0.009	-1.804413|-1.804413	0.00611|0.00611	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000297512|ENST00000357922	T|T	0.65178|0.66099	-0.14|-0.19	4.6|4.6	-9.2|-9.2	0.00682|0.00682	.|.	.|.	.|.	.|.	.|.	T|T	0.44329|0.44329	0.1288|0.1288	.|.	.|.	.|.	0.21822|0.21822	N|N	0.999522|0.999522	B|B	0.06786|0.23128	0.001|0.08	B|B	0.04013|0.14023	0.001|0.01	T|T	0.40590|0.40590	-0.9555|-0.9555	8|8	0.51188|0.54805	T|T	0.08|0.06	-1.0939|-1.0939	9.1808|9.1808	0.37141|0.37141	0.2794:0.5806:0.0:0.14|0.2794:0.5806:0.0:0.14	.|.	520|494	Q9UHC3-3|Q9UHC3-2	.|.	L|C	520|494	ENSP00000297512:P520L|ENSP00000350600:R494C	ENSP00000297512:P520L|ENSP00000350600:R494C	P|R	+|+	2|1	0|0	ACCN3|ACCN3	150380615|150380615	0.000000|0.000000	0.05858|0.05858	0.067000|0.067000	0.19924|0.19924	0.295000|0.295000	0.27426|0.27426	-5.355000|-5.355000	0.00129|0.00129	-3.690000|-3.690000	0.00120|0.00120	-1.598000|-1.598000	0.00824|0.00824	CCG|CGT		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		24	105	0	0	0	1	0	24	105				
CDKN2A	1029	broad.mit.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:21968242C>T	ENST00000304494.5	-	3	728		c.e3-1		RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000579122.1_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.?(6)|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)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1322	Whole gene deletion(1316)|Unknown(6)	p.0?(1315)|p.?(6)|p.0(1)	haematopoietic_and_lymphoid_tissue(277)|skin(166)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(33)|breast(30)|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						c.e3-1		cyclin-dependent kinase inhibitor 2A							94.0	95.0	95.0					9																	21968242		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.chr9:21968242C>T	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.458-1G>A	9.37:g.21968242C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Splice_Site				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)	3	793	-		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)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37		CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195455	0.22037	.	.	ENSG00000147889	ENST00000304494	.	.	.	3.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.50467	D	0.99987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1502	0.42788	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21958242	0.325000	0.24660	0.095000	0.20976	0.001000	0.01503	0.291000	0.18994	2.126000	0.65437	0.650000	0.86243	.		0.542	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	9	29	0	0	0	1	0	9	29				
NIN	51199	broad.mit.edu	37	14	51224911	51224911	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:51224911C>G	ENST00000382041.3	-	18	3027	c.2837G>C	c.(2836-2838)aGg>aCg	p.R946T	NIN_ENST00000245441.5_Missense_Mutation_p.R946T|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.R946T|NIN_ENST00000324330.9_Missense_Mutation_p.R946T|NIN_ENST00000453196.1_Missense_Mutation_p.R946T|NIN_ENST00000382043.4_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	946					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCTCAGTTCCCTTTTGTGACT	0.542			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(2836-2838)aGg>aCg		ninein (GSK3B interacting protein)							128.0	128.0	128.0					14																	51224911		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224911C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2837G>C	14.37:g.51224911C>G	ENSP00000371472:p.Arg946Thr					NIN_ENST00000453196.1_Missense_Mutation_p.R946T|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.R946T|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.R946T|NIN_ENST00000530997.2_Missense_Mutation_p.R946T	p.R946T	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3027	-	all_epithelial(31;0.00244)|Breast(41;0.127)		946					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.2837G>C	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.361|5.361	0.251865|0.251865	0.10185|0.10185	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T|T;T;T;T	0.14516|0.07444	2.5;2.51|3.46;3.19;3.19;3.19	5.61|5.61	1.25|1.25	0.21368|0.21368	.|.	.|0.646798	.|0.16116	.|N	.|0.228865	T|T	0.11239|0.11239	0.0274|0.0274	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|P;P;P;P	.|0.43352	.|0.804;0.688;0.634;0.787	.|B;B;B;B	.|0.42495	.|0.389;0.389;0.295;0.367	T|T	0.10497|0.10497	-1.0627|-1.0627	7|10	0.41790|0.52906	T|T	0.15|0.07	-0.5126|-0.5126	7.9426|7.9426	0.29967|0.29967	0.0:0.4944:0.0:0.5056|0.0:0.4944:0.0:0.5056	.|.	.|952;946;946;946	.|Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.|.;.;NIN_HUMAN;.	N|T	436|946;929;952;946;946;946	ENSP00000374519:K436N;ENSP00000433717:K436N|ENSP00000245441:R946T;ENSP00000371472:R946T;ENSP00000324210:R946T;ENSP00000412391:R946T	ENSP00000374519:K436N|ENSP00000245441:R946T	K|R	-|-	3|2	2|0	NIN|NIN	50294661|50294661	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	0.129000|0.129000	0.15830|0.15830	0.326000|0.326000	0.23384|0.23384	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.542	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		49	148	0	0	0	1	0	49	148				
ANKRD35	148741	broad.mit.edu	37	1	145558858	145558858	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:145558858C>T	ENST00000355594.4	+	7	564	c.477C>T	c.(475-477)atC>atT	p.I159I	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	159										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTGATGATCGCATCGCTGG	0.582																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(475-477)atC>atT		ankyrin repeat domain 35							129.0	121.0	124.0					1																	145558858		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145558858C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.477C>T	1.37:g.145558858C>T						ANKRD35_ENST00000544626.1_3'UTR	p.I159I	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			7	564	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		159					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.477C>T	CCDS919.1																																																																																				0.582	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		4	188	0	0	0	1	0	4	188				
CELSR3	1951	broad.mit.edu	37	3	48701566	48701566	+	5'Flank	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:48701566C>G	ENST00000164024.4	-	0	0				CELSR3_ENST00000544264.1_5'Flank|NCKIPSD_ENST00000341520.4_Splice_Site_p.G656A|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGAACGGTCCCTATGACAT	0.657											OREG0015562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341520.4																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.e13-1		NCK interacting protein with SH3 domain							16.0	15.0	15.0					3																	48701566		876	1987	2863	SO:0001631	upstream_gene_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48701566C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544		3.37:g.48701566C>G	Exception_encountered		OREG0015562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	RP11-148G20.1_ENST00000421275.1_RNA	p.G656_splice			Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	13	2060	-			0					O75092	Splice_Site	SNP	ENST00000164024.4	37	c.1965_splice	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.592023	0.00864	.	.	ENSG00000213672	ENST00000341520	T	0.44881	0.91	4.04	0.119	0.14685	.	0.000000	0.64402	U	0.000017	T	0.29850	0.0746	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.17806	-1.0357	7	0.51188	T	0.08	.	0.8392	0.01146	0.486:0.201:0.1214:0.1916	.	.	.	.	A	656	ENSP00000342621:G656A	ENSP00000342621:G656A	G	-	2	0	NCKIPSD	48676570	0.003000	0.15002	0.308000	0.25141	0.308000	0.27856	-0.079000	0.11357	-0.070000	0.12908	-0.264000	0.10439	GGA		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	14	0	0	0	1	0	4	14				
SLMO2	51012	broad.mit.edu	37	20	57611811	57611811	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr20:57611811G>A	ENST00000355937.4	-	4	474	c.296C>T	c.(295-297)tCa>tTa	p.S99L	SLMO2_ENST00000371033.5_Missense_Mutation_p.S69L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	99	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			GTTTGTAAATGAAATCTACAG	0.284																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(295-297)tCa>tTa		slowmo homolog 2 (Drosophila)							37.0	34.0	35.0					20																	57611811		1799	4066	5865	SO:0001583	missense	51012							g.chr20:57611811G>A	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.296C>T	20.37:g.57611811G>A	ENSP00000348206:p.Ser99Leu					SLMO2_ENST00000371033.5_Missense_Mutation_p.S69L	p.S99L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		4	474	-	all_lung(29;0.00711)		99			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	c.296C>T	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116036	0.77323	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.20463	2.07;2.07	5.32	5.32	0.75619	PRELI/MSF1 (2);	0.315689	0.35739	N	0.003014	T	0.31263	0.0791	M	0.67625	2.065	0.80722	D	1	B;B	0.18863	0.008;0.031	B;B	0.30316	0.015;0.114	T	0.09707	-1.0662	10	0.62326	D	0.03	-3.3817	18.3389	0.90298	0.0:0.0:1.0:0.0	.	69;99	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	L	99;69	ENSP00000348206:S99L;ENSP00000360072:S69L	ENSP00000348206:S99L	S	-	2	0	SLMO2	57045206	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.476000	0.97823	2.638000	0.89438	0.655000	0.94253	TCA		0.284	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		4	14	0	0	0	1	0	4	14				
GRAMD4	23151	broad.mit.edu	37	22	47069632	47069632	+	Silent	SNP	C	C	T	rs141922091		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr22:47069632C>T	ENST00000406902.1	+	15	1518	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	GRAMD4_ENST00000361034.3_Silent_p.D435D|GRAMD4_ENST00000408031.1_5'Flank			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	435					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAGAGGAGGACGCCGGTCGCT	0.617																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(1303-1305)gaC>gaT		GRAM domain containing 4		C		0,4406		0,0,2203	92.0	99.0	96.0		1305	-4.5	0.0	22	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRAMD4	NM_015124.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		435/579	47069632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47069632C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1305C>T	22.37:g.47069632C>T						GRAMD4_ENST00000361034.3_Silent_p.D435D	p.D435D			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	15	1518	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	435					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	c.1305C>T	CCDS33672.1																																																																																				0.617	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		5	281	0	0	0	1	0	5	281				
TMEM14B	81853	broad.mit.edu	37	6	10749889	10749889	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:10749889G>A	ENST00000379542.5	+	3	225	c.58G>A	c.(58-60)Gca>Aca	p.A20T	TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000481240.1_Missense_Mutation_p.A20T|RP11-421M1.8_ENST00000606522.1_lincRNA|TMEM14B_ENST00000461342.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000379530.3_Missense_Mutation_p.A20T|TMEM14B_ENST00000473276.1_Intron|SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000475942.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000467317.1_Missense_Mutation_p.A20T	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	20						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				TGGCTACACAGCACTGGTTGT	0.413																																						ENST00000480294.1																			0											c.(58-60)Gca>Aca									459.0	422.0	434.0					6																	10749889		2203	4300	6503	SO:0001583	missense	0							g.chr6:10749889G>A	AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.58G>A	6.37:g.10749889G>A	ENSP00000368858:p.Ala20Thr					TMEM14B_ENST00000461342.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000379542.5_Missense_Mutation_p.A20T|TMEM14B_ENST00000473276.1_Intron|SYCP2L_ENST00000543878.1_5'UTR|TMEM14B_ENST00000475942.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000379530.3_Missense_Mutation_p.A20T|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000467317.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000481240.1_Missense_Mutation_p.A20T	p.A20T							3	190	+								Q5THN7|Q5THN8|Q96IX7|Q9BVN8	Missense_Mutation	SNP	ENST00000379542.5	37	c.58G>A	CCDS4515.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256832	0.59321	.	.	ENSG00000137210	ENST00000472062;ENST00000379542;ENST00000475942;ENST00000461342;ENST00000379530;ENST00000467317;ENST00000481240	T;T;T;T;T;T	0.41065	2.46;2.46;2.46;2.46;2.46;1.01	3.83	3.83	0.44106	.	0.055475	0.64402	D	0.000001	T	0.45196	0.1330	M	0.91818	3.245	0.80722	D	1	P;B	0.48407	0.91;0.289	B;B	0.42462	0.388;0.344	T	0.63337	-0.6660	10	0.54805	T	0.06	.	15.8502	0.78924	0.0:0.0:1.0:0.0	.	20;20	Q5THN7;Q9NUH8	.;TM14B_HUMAN	T	20	ENSP00000368858:A20T;ENSP00000418730:A20T;ENSP00000418334:A20T;ENSP00000368845:A20T;ENSP00000420658:A20T;ENSP00000420172:A20T	ENSP00000368845:A20T	A	+	1	0	TMEM14B	10857875	1.000000	0.71417	0.149000	0.22428	0.236000	0.25371	4.017000	0.57167	2.106000	0.64143	0.561000	0.74099	GCA		0.413	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	NM_030969		19	351	0	0	0	1	0	19	351				
XKR4	114786	broad.mit.edu	37	8	56015801	56015801	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:56015801C>G	ENST00000327381.6	+	1	853	c.753C>G	c.(751-753)tgC>tgG	p.C251W		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	251						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCCTTCTGCATCTGGCTCC	0.607																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(751-753)tgC>tgG		XK, Kell blood group complex subunit-related family, member 4							61.0	64.0	63.0					8																	56015801		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56015801C>G	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.753C>G	8.37:g.56015801C>G	ENSP00000328326:p.Cys251Trp						p.C251W	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	853	+			251					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.753C>G	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556569	0.65425	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.64085	-0.08	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.64404	1.975	0.80722	D	1	D	0.56746	0.977	P	0.54460	0.753	T	0.75099	-0.3437	10	0.59425	D	0.04	5.8207	19.249	0.93914	0.0:1.0:0.0:0.0	.	251	Q5GH76	XKR4_HUMAN	W	251	ENSP00000328326:C251W	ENSP00000328326:C251W	C	+	3	2	XKR4	56178355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.676000	0.54612	2.551000	0.86045	0.555000	0.69702	TGC		0.607	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		12	99	0	0	0	1	0	12	99				
NIN	51199	broad.mit.edu	37	14	51225167	51225167	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:51225167C>G	ENST00000382041.3	-	18	2771	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	NIN_ENST00000245441.5_Missense_Mutation_p.E861Q|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.E861Q|NIN_ENST00000324330.9_Missense_Mutation_p.E861Q|NIN_ENST00000453196.1_Missense_Mutation_p.E861Q|NIN_ENST00000382043.4_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	861					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCGTCCTTCTCAAATTCCCAC	0.562			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(2581-2583)Gag>Cag		ninein (GSK3B interacting protein)							77.0	72.0	74.0					14																	51225167		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51225167C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2581G>C	14.37:g.51225167C>G	ENSP00000371472:p.Glu861Gln					NIN_ENST00000453196.1_Missense_Mutation_p.E861Q|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.E861Q|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.E861Q|NIN_ENST00000530997.2_Missense_Mutation_p.E861Q	p.E861Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	2771	-	all_epithelial(31;0.00244)|Breast(41;0.127)		861					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.2581G>C	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.611285|3.611285	0.66558|0.66558	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08984|.	3.3;3.04;3.03;3.04|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.122222|.	0.56097|.	D|.	0.000023|.	T|.	0.76364|.	0.3977|.	M|M	0.71581|0.71581	2.175|2.175	0.43326|0.43326	D|D	0.995355|0.995355	D;D;D;D|.	0.89917|.	0.978;1.0;1.0;0.998|.	P;D;D;D|.	0.91635|.	0.845;0.999;0.997;0.994|.	T|.	0.73802|.	-0.3868|.	10|.	0.34782|.	T|.	0.22|.	-18.7624|-18.7624	19.3088|19.3088	0.94175|0.94175	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	867;861;861;861|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	Q|S	861;844;867;861;861;861|351	ENSP00000245441:E861Q;ENSP00000371472:E861Q;ENSP00000324210:E861Q;ENSP00000412391:E861Q|.	ENSP00000245441:E861Q|.	E|X	-|-	1|2	0|2	NIN|NIN	50294917|50294917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.079000|4.079000	0.57613|0.57613	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAG|TGA		0.562	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		9	54	0	0	0	1	0	9	54				
WDR59	79726	broad.mit.edu	37	16	74951892	74951892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:74951892G>A	ENST00000262144.6	-	11	1031	c.901C>T	c.(901-903)Caa>Taa	p.Q301*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	301										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GTCACCAGTTGATAGTCCTTG	0.458																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(901-903)Caa>Taa		WD repeat domain 59							129.0	117.0	121.0					16																	74951892		2198	4300	6498	SO:0001587	stop_gained	79726							g.chr16:74951892G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.901C>T	16.37:g.74951892G>A	ENSP00000262144:p.Gln301*						p.Q301*	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			11	1031	-			301					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Nonsense_Mutation	SNP	ENST00000262144.6	37	c.901C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	37	6.312893	0.97467	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-16.3491	20.126	0.97982	0.0:0.0:1.0:0.0	.	.	.	.	X	301;280	.	ENSP00000262144:Q301X	Q	-	1	0	WDR59	73509393	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	9.753000	0.98904	2.749000	0.94314	0.655000	0.94253	CAA		0.458	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		18	76	0	0	0	1	0	18	76				
FAM155A	728215	broad.mit.edu	37	13	108518153	108518153	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:108518153G>A	ENST00000375915.2	-	1	930	c.792C>T	c.(790-792)tgC>tgT	p.C264C		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	264						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGCCTCGACGCACTGCCTGC	0.517																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(790-792)tgC>tgT		family with sequence similarity 155, member A							142.0	125.0	131.0					13																	108518153		2203	4300	6503	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518153G>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.792C>T	13.37:g.108518153G>A							p.C264C	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	930	-			264					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.792C>T	CCDS32006.1																																																																																				0.517	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		4	138	0	0	0	1	0	4	138				
ARMCX3	51566	broad.mit.edu	37	X	100880789	100880789	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:100880789C>G	ENST00000341189.4	+	5	1686	c.820C>G	c.(820-822)Cca>Gca	p.P274A	ARMCX3_ENST00000471229.2_Missense_Mutation_p.P274A|ARMCX3_ENST00000537169.1_Missense_Mutation_p.P274A|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	274					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTGAAAATCCAGCCATGAC	0.403																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(820-822)Cca>Gca		armadillo repeat containing, X-linked 3							59.0	54.0	56.0					X																	100880789		2201	4300	6501	SO:0001583	missense	51566					integral to membrane	binding	g.chrX:100880789C>G	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.820C>G	X.37:g.100880789C>G	ENSP00000340672:p.Pro274Ala					ARMCX3_ENST00000471229.2_Missense_Mutation_p.P274A|ARMCX3_ENST00000537169.1_Missense_Mutation_p.P274A	p.P274A	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1686	+			274					Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	c.820C>G	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607123	0.46527	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.35789	1.29;1.29	5.34	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.69248	2.105	0.45777	D	0.998662	D	0.89917	1.0	D	0.97110	1.0	T	0.52793	-0.8528	9	.	.	.	-7.1298	9.3868	0.38347	0.0:0.8936:0.0:0.1064	.	274	Q9UH62	ARMX3_HUMAN	A	274	ENSP00000340672:P274A;ENSP00000439032:P274A	.	P	+	1	0	ARMCX3	100767445	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.367000	0.34204	2.381000	0.81170	0.600000	0.82982	CCA		0.403	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		21	51	0	0	0	1	0	21	51				
CDH20	28316	broad.mit.edu	37	18	59174703	59174703	+	Missense_Mutation	SNP	G	G	A	rs373768638		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr18:59174703G>A	ENST00000262717.4	+	6	1325	c.927G>A	c.(925-927)atG>atA	p.M309I	CDH20_ENST00000538374.1_Missense_Mutation_p.M309I|CDH20_ENST00000536675.2_Missense_Mutation_p.M309I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATGCAGAGATGAAATATACTA	0.428																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(925-927)atG>atA		cadherin 20, type 2							180.0	156.0	164.0					18																	59174703		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59174703G>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.927G>A	18.37:g.59174703G>A	ENSP00000262717:p.Met309Ile					CDH20_ENST00000536675.2_Missense_Mutation_p.M309I|CDH20_ENST00000538374.1_Missense_Mutation_p.M309I	p.M309I			Q9HBT6	CAD20_HUMAN			6	1325	+		Colorectal(73;0.186)	309			Cadherin 3.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.927G>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541025	0.85917	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.39997	1.05;1.05;1.05	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	N	0.03324	-0.35	0.80722	D	1	D	0.56287	0.975	P	0.60541	0.876	T	0.50474	-0.8824	10	0.32370	T	0.25	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	309	Q9HBT6	CAD20_HUMAN	I	309	ENSP00000444767:M309I;ENSP00000442226:M309I;ENSP00000262717:M309I	ENSP00000262717:M309I	M	+	3	0	CDH20	57325683	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.004000	0.88535	2.719000	0.93026	0.555000	0.69702	ATG		0.428	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		9	56	0	0	0	1	0	9	56				
CASP8	841	broad.mit.edu	37	2	202136277	202136277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:202136277C>A	ENST00000432109.2	+	4	533	c.344C>A	c.(343-345)tCa>tAa	p.S115*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.S115*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.S115*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.S115*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.S115*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.S147*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.S174*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S115*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	115	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GTGAGCAGATCAGAATTGAGG	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(520-522)tCa>tAa		caspase 8, apoptosis-related cysteine peptidase							128.0	129.0	128.0					2																	202136277		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202136277C>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.344C>A	2.37:g.202136277C>A	ENSP00000412523:p.Ser115*	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Nonsense_Mutation_p.S115*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.S115*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S115*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.S115*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.S115*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.S147*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.S115*	p.S174*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			3	717	+			115			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.521C>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	8.150	0.787153	0.16189	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	4.71	-9.42	0.00610	.	7.357090	0.00754	N	0.001093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5193	0.11952	0.521:0.2824:0.0795:0.1172	.	.	.	.	X	115;115;115;115;115;147;12;115;115;115;174;115;115;115;115	.	ENSP00000264274:S115X	S	+	2	0	CASP8	201844522	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.082000	0.00613	-2.764000	0.00368	-0.311000	0.09066	TCA		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		12	65	1	0	9.31168e-06	1	9.52172e-06	12	65				
OR11L1	391189	broad.mit.edu	37	1	248004707	248004707	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:248004707G>A	ENST00000355784.2	-	1	547	c.492C>T	c.(490-492)tcC>tcT	p.S164S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	164						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTCCAACCTGGAAATCATCA	0.552																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(490-492)tcC>tcT		olfactory receptor, family 11, subfamily L, member 1							89.0	89.0	89.0					1																	248004707		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004707G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.492C>T	1.37:g.248004707G>A							p.S164S	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	547	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		164						Silent	SNP	ENST00000355784.2	37	c.492C>T	CCDS31098.1																																																																																				0.552	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		29	122	0	0	0	1	0	29	122				
ISCU	23479	broad.mit.edu	37	12	108957917	108957917	+	Intron	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:108957917G>C	ENST00000311893.9	+	2	136				ISCU_ENST00000338291.4_Missense_Mutation_p.D9H|ISCU_ENST00000539593.1_Intron|SART3_ENST00000546611.1_5'Flank|ISCU_ENST00000431221.2_Intron|ISCU_ENST00000547005.1_Intron|SART3_ENST00000228284.3_5'Flank|ISCU_ENST00000392807.4_Missense_Mutation_p.D9H|ISCU_ENST00000535729.1_Intron|SART3_ENST00000431469.2_5'Flank|SART3_ENST00000552221.1_5'Flank	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme						iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						CATGAGTGTAGACCTTTCTAC	0.408																																						ENST00000338291.4																			0				kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						c.(25-27)Gac>Cac		iron-sulfur cluster assembly enzyme							151.0	142.0	145.0					12																	108957917		2203	4300	6503	SO:0001627	intron_variant	23479				iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	g.chr12:108957917G>C	U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"""NifU-like N-terminal domain containing"", ""IscU iron-sulfur cluster scaffold homolog (E. coli)"", ""iron-sulfur cluster scaffold homolog (E. coli)"""	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.115-138G>C	12.37:g.108957917G>C						ISCU_ENST00000539593.1_Intron|ISCU_ENST00000535729.1_Intron|ISCU_ENST00000392807.4_Missense_Mutation_p.D9H|ISCU_ENST00000431221.2_Intron|ISCU_ENST00000311893.9_Intron|ISCU_ENST00000547005.1_Intron	p.D9H			Q9H1K1	ISCU_HUMAN			2	213	+			0					Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	ENST00000311893.9	37	c.25G>C	CCDS44966.1	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816269	0.16607	.	.	ENSG00000136003	ENST00000392807;ENST00000338291	T;T	0.78924	-1.17;-1.22	3.68	1.75	0.24633	.	.	.	.	.	T	0.69762	0.3147	L	0.56769	1.78	0.09310	N	1	B;B	0.22146	0.065;0.017	B;B	0.14578	0.011;0.004	T	0.62388	-0.6865	9	0.87932	D	0	.	4.8524	0.13543	0.2822:0.0:0.7178:0.0	.	9;9	B1P7G3;Q9H1K1-2	.;.	H	9	ENSP00000376554:D9H;ENSP00000344584:D9H	ENSP00000344584:D9H	D	+	1	0	ISCU	107482046	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	0.643000	0.24750	0.485000	0.27652	0.655000	0.94253	GAC		0.408	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301		30	109	0	0	0	1	0	30	109				
TOE1	114034	broad.mit.edu	37	1	45806993	45806993	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:45806993G>A	ENST00000372090.5	+	3	797	c.214G>A	c.(214-216)Gac>Aac	p.D72N	MUTYH_ENST00000529984.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.G24E|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000528013.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000450313.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	72						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGGCTTGGGGACAGGAAGAG	0.552																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(214-216)Gac>Aac		target of EGR1, member 1 (nuclear)							84.0	85.0	84.0					1																	45806993		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45806993G>A		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.214G>A	1.37:g.45806993G>A	ENSP00000361162:p.Asp72Asn					TOE1_ENST00000539779.1_Missense_Mutation_p.G24E|TOE1_ENST00000495703.1_3'UTR	p.D72N	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			3	797	+	Acute lymphoblastic leukemia(166;0.155)		72					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.214G>A	CCDS521.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.331770|1.331770	0.24167|0.24167	.|.	.|.	ENSG00000132773|ENSG00000132773	ENST00000372090|ENST00000539779	T|T	0.22945|0.33865	1.93|1.39	5.61|5.61	5.61|5.61	0.85477|0.85477	Ribonuclease H-like (1);|.	0.207923|.	0.52532|.	D|.	0.000063|.	T|T	0.31702|0.31702	0.0805|0.0805	N|N	0.24115|0.24115	0.695|0.695	0.24831|0.24831	N|N	0.992525|0.992525	B;B|P	0.15930|0.39717	0.004;0.015|0.684	B;B|B	0.15484|0.40901	0.005;0.013|0.343	T|T	0.29518|0.29518	-1.0009|-1.0009	10|9	0.06757|0.87932	T|D	0.87|0	-23.1445|-23.1445	15.2467|15.2467	0.73511|0.73511	0.0:0.0:0.859:0.141|0.0:0.0:0.859:0.141	.|.	78;72|24	B4DP23;Q96GM8|B4DEM6	.;TOE1_HUMAN|.	N|E	72|24	ENSP00000361162:D72N|ENSP00000438900:G24E	ENSP00000361162:D72N|ENSP00000438900:G24E	D|G	+|+	1|2	0|0	TOE1|TOE1	45579580|45579580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.797000|2.797000	0.47877|0.47877	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.552	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		17	66	0	0	0	1	0	17	66				
FAM47B	170062	broad.mit.edu	37	X	34961123	34961123	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:34961123C>T	ENST00000329357.5	+	1	211	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	59										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACGACTTCCGCTACGCCTG	0.557																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(175-177)Cgc>Tgc		family with sequence similarity 47, member B							93.0	77.0	82.0					X																	34961123		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961123C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.175C>T	X.37:g.34961123C>T	ENSP00000328307:p.Arg59Cys						p.R59C	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	211	+			59					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.175C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	c	11.44	1.638808	0.29157	.	.	ENSG00000189132	ENST00000329357	T	0.21543	2.0	0.834	-0.987	0.10249	.	.	.	.	.	T	0.39784	0.1091	M	0.80422	2.495	0.09310	N	0.999997	D	0.89917	1.0	D	0.65010	0.931	T	0.19910	-1.0291	8	0.87932	D	0	.	.	.	.	.	59	Q8NA70	FA47B_HUMAN	C	59	ENSP00000328307:R59C	ENSP00000328307:R59C	R	+	1	0	FAM47B	34871044	0.661000	0.27430	0.114000	0.21550	0.091000	0.18340	0.669000	0.25142	-0.326000	0.08564	0.287000	0.19450	CGC		0.557	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		18	64	0	0	0	1	0	18	64				
ZNF519	162655	broad.mit.edu	37	18	14105477	14105477	+	Silent	SNP	G	G	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr18:14105477G>T	ENST00000590202.1	-	3	1214	c.1062C>A	c.(1060-1062)ggC>ggA	p.G354G	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	354					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TAAAGGCTTTGCCACATTCTT	0.418																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1060-1062)ggC>ggA		zinc finger protein 519							108.0	111.0	110.0					18																	14105477		2203	4300	6503	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105477G>T	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1062C>A	18.37:g.14105477G>T						ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	p.G354G	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1214	-			354						Silent	SNP	ENST00000590202.1	37	c.1062C>A	CCDS32797.1																																																																																				0.418	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		24	99	1	0	3.5997e-14	1	3.8548e-14	24	99				
EPSTI1	94240	broad.mit.edu	37	13	43543251	43543251	+	Missense_Mutation	SNP	G	G	C	rs142946395		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:43543251G>C	ENST00000398762.3	-	3	309	c.310C>G	c.(310-312)Cac>Gac	p.H104D	EPSTI1_ENST00000313640.7_Missense_Mutation_p.H104D|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.H104D			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	104										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GGCACCAGGTGAACCGGTTTA	0.547																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(310-312)Cac>Gac		epithelial stromal interaction 1 (breast)							105.0	82.0	90.0					13																	43543251		2203	4300	6503	SO:0001583	missense	94240							g.chr13:43543251G>C	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.310C>G	13.37:g.43543251G>C	ENSP00000381746:p.His104Asp					EPSTI1_ENST00000398762.3_Missense_Mutation_p.H104D|EPSTI1_ENST00000313624.7_Missense_Mutation_p.H104D|EPSTI1_ENST00000476830.2_5'UTR	p.H104D	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	3	374	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	104					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.310C>G	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871820	0.33069	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.21361	2.01	5.09	-2.08	0.07254	.	0.886021	0.09948	N	0.735083	T	0.13372	0.0324	L	0.40543	1.245	0.09310	N	1	B;B	0.24426	0.103;0.103	B;B	0.21917	0.037;0.037	T	0.38112	-0.9676	10	0.17369	T	0.5	-0.3305	5.9898	0.19454	0.2601:0.0:0.5221:0.2178	.	104;104	Q96J88-2;Q96J88-3	.;.	D	104	ENSP00000318982:H104D	ENSP00000318643:H104D	H	-	1	0	EPSTI1	42441251	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.070000	0.11523	-0.196000	0.10366	0.650000	0.86243	CAC		0.547	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		6	53	0	0	0	1	0	6	53				
NDUFA9	4704	broad.mit.edu	37	12	4796253	4796253	+	Silent	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:4796253G>C	ENST00000266544.5	+	11	1133	c.1113G>C	c.(1111-1113)ccG>ccC	p.P371P	NDUFA9_ENST00000540688.1_Silent_p.P130P|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	371					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						ATGTGAAGCCGGCCAAGACCG	0.552																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1111-1113)ccG>ccC		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						83.0	61.0	68.0					12																	4796253		2203	4300	6503	SO:0001819	synonymous_variant	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4796253G>C	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.1113G>C	12.37:g.4796253G>C						NDUFA9_ENST00000540688.1_Silent_p.P130P|RP11-234B24.6_ENST00000544741.2_Intron	p.P371P	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			11	1133	+			371					Q14076|Q2NKX0	Silent	SNP	ENST00000266544.5	37	c.1113G>C	CCDS8532.1																																																																																				0.552	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		8	38	0	0	0	1	0	8	38				
RUSC1	23623	broad.mit.edu	37	1	155300201	155300201	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:155300201C>T	ENST00000368352.5	+	10	2699	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	RUSC1_ENST00000368354.3_Missense_Mutation_p.R744W|RUSC1_ENST00000292254.4_Missense_Mutation_p.R381W|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.R381W|RUSC1_ENST00000368347.4_Missense_Mutation_p.R440W	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	850	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGGGCAGTGCGGGCTCTCTG	0.617																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2548-2550)Cgg>Tgg		RUN and SH3 domain containing 1							89.0	74.0	79.0					1																	155300201		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155300201C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2548C>T	1.37:g.155300201C>T	ENSP00000357336:p.Arg850Trp					RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.R440W|RUSC1_ENST00000368354.3_Missense_Mutation_p.R744W|RUSC1_ENST00000292254.4_Missense_Mutation_p.R381W|RUSC1_ENST00000368349.4_Missense_Mutation_p.R381W	p.R850W	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	2699	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		850			SH3.		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2548C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341654	0.41498	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.37915	1.37;1.6;1.17;1.17;1.17	4.4	3.47	0.39725	Src homology-3 domain (4);	0.000000	0.41194	D	0.000929	T	0.59101	0.2169	M	0.92970	3.365	0.50313	D	0.999861	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;1.0;0.998;0.999	T	0.70644	-0.4815	10	0.72032	D	0.01	-28.7572	12.6539	0.56776	0.0:0.8331:0.1669:0.0	.	348;381;381;275;440;349;850	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	W	744;850;440;381;381	ENSP00000357338:R744W;ENSP00000357336:R850W;ENSP00000357331:R440W;ENSP00000357333:R381W;ENSP00000292254:R381W	ENSP00000292254:R381W	R	+	1	2	RUSC1	153566825	0.904000	0.30761	0.888000	0.34837	0.026000	0.11368	1.884000	0.39668	1.180000	0.42898	-0.499000	0.04595	CGG		0.617	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			4	58	0	0	0	1	0	4	58				
OR52R1	119695	broad.mit.edu	37	11	4825562	4825562	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:4825562G>T	ENST00000356069.2	-	1	48	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	OR52R1_ENST00000380382.1_Missense_Mutation_p.L96M|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCCAAGCAGGATGAAGGAC	0.507																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(286-288)Ctg>Atg		olfactory receptor, family 52, subfamily R, member 1							99.0	87.0	91.0					11																	4825562		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825562G>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.49C>A	11.37:g.4825562G>T	ENSP00000348368:p.Leu17Met					MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.L17M|MMP26_ENST00000477339.1_Intron	p.L96M			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	285	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	17					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.286C>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082104	0.36758	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00551	6.65;6.65	5.57	2.71	0.32032	.	0.000000	0.37178	N	0.002205	T	0.03095	0.0091	H	0.95470	3.675	0.28779	N	0.899964	D	0.89917	1.0	D	0.91635	0.999	T	0.04825	-1.0924	10	0.72032	D	0.01	.	9.1392	0.36892	0.2384:0.0:0.7616:0.0	.	17	Q8NGF1	O52R1_HUMAN	M	17;96	ENSP00000348368:L17M;ENSP00000369742:L96M	ENSP00000348368:L17M	L	-	1	2	OR52R1	4782138	0.994000	0.37717	0.979000	0.43373	0.324000	0.28378	1.814000	0.38972	0.459000	0.27016	-0.142000	0.14014	CTG		0.507	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		5	51	1	0	5.9392e-07	1	6.16589e-07	5	51				
SFTPD	6441	broad.mit.edu	37	10	81701732	81701732	+	Silent	SNP	G	G	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:81701732G>T	ENST00000372292.3	-	5	568	c.528C>A	c.(526-528)gtC>gtA	p.V176V		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	176	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGTTTCCAGGGACTCCACGCT	0.642																																						ENST00000372292.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17						c.(526-528)gtC>gtA		surfactant protein D							91.0	85.0	87.0					10																	81701732		2203	4300	6503	SO:0001819	synonymous_variant	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81701732G>T	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.528C>A	10.37:g.81701732G>T							p.V176V	NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		5	568	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		176			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	ENST00000372292.3	37	c.528C>A	CCDS7362.1																																																																																				0.642	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			4	131	1	0	1	1	1	4	131				
ARMC10	83787	broad.mit.edu	37	7	102738893	102738893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:102738893delT	ENST00000323716.3	+	7	1317	c.925delT	c.(925-927)tttfs	p.F310fs	ARMC10_ENST00000428183.2_Frame_Shift_Del_p.F251fs|ARMC10_ENST00000454559.1_Frame_Shift_Del_p.F216fs|ARMC10_ENST00000425331.1_Frame_Shift_Del_p.F251fs|ARMC10_ENST00000441711.2_Frame_Shift_Del_p.F275fs|ARMC10_ENST00000541300.1_Frame_Shift_Del_p.F192fs	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	310					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGGTTCATTGTTTTTCCTGTT	0.383																																						ENST00000323716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(925-927)ttfs		armadillo repeat containing 10							64.0	59.0	60.0					7																	102738893		2203	4296	6499	SO:0001589	frameshift_variant	83787				regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	g.chr7:102738893delT	AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.925delT	7.37:g.102738893delT	ENSP00000319412:p.Phe310fs					ARMC10_ENST00000454559.1_Frame_Shift_Del_p.F216fs|ARMC10_ENST00000441711.2_Frame_Shift_Del_p.F275fs|ARMC10_ENST00000428183.2_Frame_Shift_Del_p.F251fs|ARMC10_ENST00000541300.1_Frame_Shift_Del_p.F192fs|ARMC10_ENST00000425331.1_Frame_Shift_Del_p.F251fs	p.F310fs	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN			7	1317	+			310					A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Frame_Shift_Del	DEL	ENST00000323716.3	37	c.925delT	CCDS5728.1																																																																																				0.383	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		15	37						15	37	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104752839	104752847	+	In_Frame_Del	DEL	CCTCCACCT	CCTCCACCT	-			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:104752839_104752847delCCTCCACCT	ENST00000311117.3	+	27	5181_5189	c.4636_4644delCCTCCACCT	c.(4636-4644)cctccacctdel	p.PPP1549del	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_In_Frame_Del_p.PPP1507del|KMT2E_ENST00000257745.4_In_Frame_Del_p.PPP1549del|KMT2E_ENST00000334914.7_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1549	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P1546_P1548delPPP(1)									GGCACCACCCCCTCCACCTCCTCCACCTC	0.45																																						ENST00000334877.4																			1	Deletion - In frame(1)	p.P1546_P1548delPPP(1)	breast(1)								c.(4510-4518)del		lysine (K)-specific methyltransferase 2E			,	4,4258		0,4,2127					,	-5.7	0.8			165	2,8252		0,2,4125	no	coding,coding	MLL5	NM_182931.2,NM_018682.3	,	0,6,6252	A1A1,A1R,RR		0.0242,0.0939,0.0479	,	,		6,12510				SO:0001651	inframe_deletion	55904							g.chr7:104752839_104752847delCCTCCACCT	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4636_4644delCCTCCACCT	7.37:g.104752848_104752856delCCTCCACCT	ENSP00000312379:p.Pro1549_Pro1551del					KMT2E_ENST00000257745.4_In_Frame_Del_p.PPP1549del|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_In_Frame_Del_p.PPP1549del|KMT2E_ENST00000334914.7_Intron	p.PPP1507del							26	5044_5052	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	In_Frame_Del	DEL	ENST00000311117.3	37	c.4510_4518delCCTCCACCT	CCDS34723.1																																																																																				0.450	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			16	89						16	89	---	---	---	---
RAPGEF3	10411	broad.mit.edu	37	12	48151827	48151830	+	Frame_Shift_Del	DEL	CCCA	CCCA	-	rs577376634	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:48151827_48151830delCCCA	ENST00000449771.2	-	2	126_129	c.38_41delTGGG	c.(37-42)gtgggcfs	p.VG13fs	SLC48A1_ENST00000547002.1_5'Flank|RAPGEF3_ENST00000395358.3_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000405493.2_5'UTR|RAPGEF3_ENST00000548919.1_5'UTR|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000171000.4_5'UTR|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000549151.1_5'UTR			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	13					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CACAGCCAGGCCCACCTGCCAGCA	0.657														3	0.000599042	0.0	0.0	5008	,	,		18109	0.0		0.003	False		,,,				2504	0.0					ENST00000395358.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(37-42)gcfs		Rap guanine nucleotide exchange factor (GEF) 3			,,	4,4190		0,4,2093					,,	1.0	1.0			13	26,8108		1,24,4042	no	utr-5,utr-5,frameshift	RAPGEF3	NM_006105.5,NM_001098532.2,NM_001098531.2	,,	1,28,6135	A1A1,A1R,RR		0.3196,0.0954,0.2433	,,	,,		30,12298				SO:0001589	frameshift_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48151827_48151830delCCCA	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.38_41delTGGG	12.37:g.48151827_48151830delCCCA	ENSP00000395708:p.Val13fs					RAPGEF3_ENST00000548919.1_5'UTR|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000549151.1_5'UTR|RAPGEF3_ENST00000405493.2_5'UTR|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000171000.4_5'UTR	p.VG13fs			A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	2	126_129	-	Lung SC(27;0.192)		0					A8K2G5|E7EQC8|O95634|Q8WVN0	Frame_Shift_Del	DEL	ENST00000449771.2	37	c.38_41delTGGG	CCDS41775.1																																																																																				0.657	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		8	5						8	5	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	4						4	4	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			103504731							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	6						4	6	---	---	---	---
