#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HTR1D	3352	broad.mit.edu	37	1	23520575	23520575	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:23520575G>A	ENST00000374619.1	-	1	647	c.138C>T	c.(136-138)tcC>tcT	p.S46S	HTR1D_ENST00000314113.3_Silent_p.S46S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	46					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGTGATGACGGAAAGGACCA	0.572																																						uc001bgn.2		NA																	0					0						c.(136-138)TCC>TCT		5-hydroxytryptamine (serotonin) receptor 1D	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						193.0	177.0	183.0					1																	23520575		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520575G>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.138C>T	1.37:g.23520575G>A							p.S46S	NM_000864	NP_000855	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	648	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	46			Helical; Name=1; (By similarity).			Silent	SNP	ENST00000374619.1	37	c.138C>T	CCDS231.1																																																																																				0.572	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		91	101	0	0	0	0	91	101				
S100PBP	64766	broad.mit.edu	37	1	33295639	33295639	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:33295639A>C	ENST00000373475.5	+	5	1249	c.995A>C	c.(994-996)cAt>cCt	p.H332P	S100PBP_ENST00000398243.3_Missense_Mutation_p.H331P|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.H332P	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GTCATTGCTCATATAGAAGAC	0.403																																						uc001bvz.2		NA																	0					0						c.(994-996)CAT>CCT		S100P binding protein isoform a							89.0	85.0	86.0					1																	33295639		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33295639A>C	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.995A>C	1.37:g.33295639A>C	ENSP00000362574:p.His332Pro					S100PBP_uc001bwa.1_Missense_Mutation_p.H331P|S100PBP_uc001bwb.1_Missense_Mutation_p.H332P|S100PBP_uc001bwc.2_Missense_Mutation_p.H332P|S100PBP_uc001bwd.2_RNA	p.H332P	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			5	1272	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	332						Missense_Mutation	SNP	ENST00000373475.5	37	c.995A>C	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108258	0.77096	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.68952	2.095	0.36906	D	0.890643	D;D	0.89917	1.0;0.998	D;D	0.77004	0.989;0.974	T	0.79683	-0.1701	9	0.87932	D	0	-15.5858	12.9295	0.58278	1.0:0.0:0.0:0.0	.	331;332	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	P	332;332;331;331;332	.	ENSP00000349117:H332P	H	+	2	0	S100PBP	33068226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.505000	0.60421	2.371000	0.80710	0.533000	0.62120	CAT		0.403	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		29	140	0	0	0	0	29	140				
WLS	79971	broad.mit.edu	37	1	68613869	68613869	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:68613869T>G	ENST00000262348.4	-	8	1337	c.1084A>C	c.(1084-1086)Acg>Ccg	p.T362P	WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.T362P|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.T360P|WLS_ENST00000370976.3_Missense_Mutation_p.T271P	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	362					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAGGGATTCGTGAGTTGTACC	0.443																																						uc001def.1		NA																	0					0						c.(1084-1086)ACG>CCG		G protein-coupled receptor 177 isoform 1							132.0	124.0	126.0					1																	68613869		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68613869T>G	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1084A>C	1.37:g.68613869T>G	ENSP00000262348:p.Thr362Pro					uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.T360P|WLS_uc001deg.1_Missense_Mutation_p.T271P|WLS_uc009wbf.1_Missense_Mutation_p.T317P	p.T362P	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			8	1355	-			362			Lumenal (Potential).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.1084A>C	CCDS642.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.474425	0.63737	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.78	4.62	0.57501	.	0.148213	0.64402	D	0.000011	T	0.28134	0.0694	L	0.43152	1.355	0.41310	D	0.987109	P;P;P;P	0.50710	0.938;0.583;0.523;0.938	P;B;B;P	0.47705	0.555;0.378;0.287;0.555	T	0.03493	-1.1031	10	0.39692	T	0.17	-8.0184	12.4113	0.55469	0.1261:0.0:0.0:0.8739	.	362;271;362;360	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	P	362;360;362;271	ENSP00000446112:T362P;ENSP00000346829:T360P;ENSP00000262348:T362P;ENSP00000360015:T271P	ENSP00000262348:T362P	T	-	1	0	WLS	68386457	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.711000	0.68400	1.073000	0.40885	0.533000	0.62120	ACG		0.443	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		21	183	0	0	0	0	21	183				
CTH	1491	broad.mit.edu	37	1	70881666	70881666	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:70881666C>G	ENST00000370938.3	+	2	340	c.196C>G	c.(196-198)Ccc>Gcc	p.P66A	CTH_ENST00000411986.2_Missense_Mutation_p.P66A|CTH_ENST00000346806.2_Missense_Mutation_p.P66A|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTCTGGAAATCCCACTAGGAA	0.358																																						uc001dfd.2		NA																	0				lung(1)	1						c.(196-198)CCC>GCC		cystathionase isoform 1	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						83.0	90.0	87.0					1																	70881666		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70881666C>G	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.196C>G	1.37:g.70881666C>G	ENSP00000359976:p.Pro66Ala					CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.P66A|CTH_uc010oqq.1_Missense_Mutation_p.P66A	p.P66A	NM_001902	NP_001893	P32929	CGL_HUMAN			2	340	+			66					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.196C>G	CCDS650.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720791	0.89205	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.90004	-1.65;-2.6;-1.65	5.55	5.55	0.83447	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	M	0.89214	3.015	0.80722	D	1	D;D;D	0.76494	0.997;0.996;0.999	D;P;P	0.63381	0.914;0.86;0.887	D	0.94929	0.8080	10	0.87932	D	0	-7.7515	18.6468	0.91413	0.0:1.0:0.0:0.0	.	66;66;66	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	A	66	ENSP00000413407:P66A;ENSP00000359976:P66A;ENSP00000311554:P66A	ENSP00000311554:P66A	P	+	1	0	CTH	70654254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.498000	0.81546	2.768000	0.95171	0.655000	0.94253	CCC		0.358	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		15	95	0	0	0	0	15	95				
CCBL2	56267	broad.mit.edu	37	1	89427140	89427140	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:89427140G>C	ENST00000260508.4	-	7	927	c.590C>G	c.(589-591)cCt>cGt	p.P197R	CCBL2_ENST00000370491.3_Missense_Mutation_p.P163R|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	197					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CAGTTCTTGAGGATCTAATGT	0.323																																						uc001dmp.2		NA																	0				ovary(1)	1						c.(589-591)CCT>CGT		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						152.0	147.0	149.0					1																	89427140		2203	4300	6503	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89427140G>C	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.590C>G	1.37:g.89427140G>C	ENSP00000260508:p.Pro197Arg					CCBL2_uc001dmq.2_Missense_Mutation_p.P163R|CCBL2_uc001dmr.2_Missense_Mutation_p.P33R	p.P197R	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	7	967	-		Lung NSC(277;0.123)	197					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.590C>G	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251318	0.39797	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370486	D;D;D	0.90385	-2.66;-2.66;-2.66	5.78	3.57	0.40892	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.142736	0.64402	D	0.000004	D	0.87708	0.6245	M	0.64404	1.975	0.80722	D	1	D	0.55800	0.973	P	0.55577	0.779	D	0.85938	0.1456	10	0.11485	T	0.65	-39.2401	11.8827	0.52583	0.0728:0.0:0.8022:0.125	.	197	Q6YP21	KAT3_HUMAN	R	163;197;197	ENSP00000359522:P163R;ENSP00000260508:P197R;ENSP00000359517:P197R	ENSP00000260508:P197R	P	-	2	0	CCBL2	89199728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.955000	0.63638	1.435000	0.47434	0.655000	0.94253	CCT		0.323	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		40	209	0	0	0	0	40	209				
FLG	2312	broad.mit.edu	37	1	152281203	152281203	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:152281203G>C	ENST00000368799.1	-	3	6194	c.6159C>G	c.(6157-6159)gaC>gaG	p.D2053E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2053	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)			GTGTGTCTGAGTCTTCTGAAT	0.562									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6157-6159)GAC>GAG		filaggrin							461.0	380.0	408.0					1																	152281203		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.chr1:152281203G>C	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.6159C>G	1.37:g.152281203G>C	ENSP00000357789:p.Asp2053Glu						p.D2053E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6195	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2053			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6159C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	6.987	0.552237	0.13374	.	.	ENSG00000143631	ENST00000368799	T	0.00882	5.58	3.35	-1.31	0.09230	.	.	.	.	.	T	0.00210	0.0006	L	0.36672	1.1	0.09310	N	1	B	0.33694	0.421	B	0.25291	0.059	T	0.39057	-0.9632	9	0.02654	T	1	-3.1894	7.0223	0.24920	0.414:0.0:0.586:0.0	.	2053	P20930	FILA_HUMAN	E	2053	ENSP00000357789:D2053E	ENSP00000357789:D2053E	D	-	3	2	FLG	150547827	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.831000	0.04405	-0.376000	0.07943	0.485000	0.47835	GAC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		17	798	0	0	0	0	17	798				
FLG	2312	broad.mit.edu	37	1	152281224	152281224	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:152281224G>A	ENST00000368799.1	-	3	6173	c.6138C>T	c.(6136-6138)gaC>gaT	p.D2046D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2046	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)			GTCCCTCACTGTCACTGGCCT	0.562									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6136-6138)GAC>GAT		filaggrin							493.0	416.0	442.0					1																	152281224		2203	4298	6501	SO:0001819	synonymous_variant	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.chr1:152281224G>A	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.6138C>T	1.37:g.152281224G>A							p.D2046D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6174	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2046			Ser-rich.|Filaggrin 12.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6138C>T	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		21	833	0	0	0	0	21	833				
NAV1	89796	broad.mit.edu	37	1	201751710	201751710	+	Silent	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:201751710A>T	ENST00000367296.4	+	6	2490	c.2070A>T	c.(2068-2070)ggA>ggT	p.G690G	NAV1_ENST00000367297.4_Silent_p.G690G|NAV1_ENST00000367295.1_Silent_p.G299G|NAV1_ENST00000367300.3_Silent_p.G690G|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.G690G|NAV1_ENST00000367302.1_Silent_p.G703G	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	690					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGCGGGGTGGACCTCGCCCTG	0.627																																						uc001gwu.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2068-2070)GGA>GGT		neuron navigator 1							48.0	54.0	52.0					1																	201751710		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201751710A>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2070A>T	1.37:g.201751710A>T						NAV1_uc001gwv.1_Silent_p.G198G|NAV1_uc001gww.1_Silent_p.G299G|NAV1_uc001gwx.2_Silent_p.G299G|NAV1_uc001gwy.1_Silent_p.G71G	p.G690G	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			6	2417	+			690					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.2070A>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295492	0.23564	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.56	-5.18	0.02840	.	.	.	.	.	T	0.17323	0.0416	.	.	.	0.21105	N	0.99979	.	.	.	.	.	.	T	0.25882	-1.0119	4	.	.	.	-11.5714	1.7988	0.03067	0.2699:0.3784:0.1739:0.1778	.	.	.	.	S	248	.	.	T	+	1	0	NAV1	200018333	0.000000	0.05858	0.771000	0.31576	0.991000	0.79684	-1.108000	0.03313	-0.955000	0.03636	0.533000	0.62120	ACC		0.627	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		47	44	0	0	0	0	47	44				
SVIL	6840	broad.mit.edu	37	10	29821795	29821795	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:29821795G>C	ENST00000355867.4	-	8	2253	c.1501C>G	c.(1501-1503)Caa>Gaa	p.Q501E	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.Q501E	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	501					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCGGAGCTTGAGGGGGTTGT	0.532																																						uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1501-1503)CAA>GAA		supervillin isoform 2							112.0	108.0	109.0					10																	29821795		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29821795G>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1501C>G	10.37:g.29821795G>C	ENSP00000348128:p.Gln501Glu					SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.Q501E	p.Q501E	NM_021738	NP_068506	O95425	SVIL_HUMAN			8	2254	-		Breast(68;0.103)	501					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1501C>G	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	0.535	-0.856328	0.02630	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.47177	0.85;0.85	4.61	-5.96	0.02234	.	2.314470	0.01752	N	0.030014	T	0.27663	0.0680	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13764	-1.0497	9	.	.	.	9.1412	8.7245	0.34460	0.0:0.4556:0.2661:0.2784	.	501	O95425	SVIL_HUMAN	E	501	ENSP00000364547:Q501E;ENSP00000348128:Q501E	.	Q	-	1	0	SVIL	29861801	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.260000	0.08708	-1.088000	0.03077	0.655000	0.94253	CAA		0.532	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			29	121	0	0	0	0	29	121				
NRG3	10718	broad.mit.edu	37	10	83635638	83635638	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:83635638C>A	ENST00000404547.1	+	1	542	c.542C>A	c.(541-543)tCc>tAc	p.S181Y	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.S181Y			P56975	NRG3_HUMAN	neuregulin 3	181	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCCCGCGCTCCACCACAGCA	0.721																																						uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(541-543)TCC>TAC		neuregulin 3 isoform 1							32.0	38.0	36.0					10																	83635638		2201	4299	6500	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635638C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.542C>A	10.37:g.83635638C>A	ENSP00000384796:p.Ser181Tyr					NRG3_uc010qlz.1_Missense_Mutation_p.S181Y|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	p.S181Y	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	569	+			181			Ser/Thr-rich.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.542C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422794	0.62733	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.36157	1.27;1.29	3.41	3.41	0.39046	.	0.169768	0.27861	U	0.017542	T	0.23886	0.0578	N	0.14661	0.345	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.45946	0.498;0.498	T	0.02173	-1.1201	10	0.17832	T	0.49	-2.8088	12.7368	0.57230	0.0:1.0:0.0:0.0	.	181;181	B9EGV5;P56975-4	.;.	Y	181	ENSP00000361214:S181Y;ENSP00000384796:S181Y	ENSP00000361214:S181Y	S	+	2	0	NRG3	83625618	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.329000	0.59260	1.920000	0.55613	0.478000	0.44815	TCC		0.721	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		10	34	1	0	3.86e-05	4.31e-05	10	34				
MYOF	26509	broad.mit.edu	37	10	95111312	95111312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:95111312A>T	ENST00000359263.4	-	34	3679	c.3680T>A	c.(3679-3681)tTa>tAa	p.L1227*	MYOF_ENST00000371502.4_Nonsense_Mutation_p.L1227*|MYOF_ENST00000371501.4_Nonsense_Mutation_p.L1227*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.L1214*	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1227	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCTTCGTCCTAAAAATTCATC	0.413																																						uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(3679-3681)TTA>TAA		myoferlin isoform a							102.0	98.0	99.0					10																	95111312		1860	4100	5960	SO:0001587	stop_gained	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111312A>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3680T>A	10.37:g.95111312A>T	ENSP00000352208:p.Leu1227*					MYOF_uc001kio.2_Nonsense_Mutation_p.L1214*|MYOF_uc009xue.2_RNA	p.L1227*	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			34	3803	-			1227			Cytoplasmic (Potential).|C2 4.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Nonsense_Mutation	SNP	ENST00000359263.4	37	c.3680T>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	A	44	11.204867	0.99531	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6813	16.4447	0.83919	1.0:0.0:0.0:0.0	.	.	.	.	X	1214;1227;1227;1227	.	ENSP00000351094:L1214X	L	-	2	0	MYOF	95101302	1.000000	0.71417	0.987000	0.45799	0.895000	0.52256	9.108000	0.94275	2.284000	0.76573	0.528000	0.53228	TTA		0.413	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		41	148	0	0	0	0	41	148				
MYOF	26509	broad.mit.edu	37	10	95111315	95111315	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:95111315A>T	ENST00000359263.4	-	34	3676	c.3677T>A	c.(3676-3678)tTt>tAt	p.F1226Y	MYOF_ENST00000371502.4_Missense_Mutation_p.F1226Y|MYOF_ENST00000371501.4_Missense_Mutation_p.F1226Y|MYOF_ENST00000358334.5_Missense_Mutation_p.F1213Y	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1226	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCGTCCTAAAAATTCATCTTT	0.413																																						uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(3676-3678)TTT>TAT		myoferlin isoform a							101.0	98.0	99.0					10																	95111315		1860	4097	5957	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111315A>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3677T>A	10.37:g.95111315A>T	ENSP00000352208:p.Phe1226Tyr					MYOF_uc001kio.2_Missense_Mutation_p.F1213Y|MYOF_uc009xue.2_RNA	p.F1226Y	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			34	3800	-			1226			Cytoplasmic (Potential).|C2 4.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3677T>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319369	0.81469	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.96	5.96	0.96718	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.172324	0.53938	D	0.000060	T	0.77068	0.4076	L	0.46885	1.475	0.41943	D	0.990626	B;P	0.51449	0.032;0.945	B;P	0.57009	0.049;0.811	T	0.77316	-0.2633	10	0.46703	T	0.11	-19.9879	16.4447	0.83919	1.0:0.0:0.0:0.0	.	1213;1226	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Y	1213;1226;1226;1226	ENSP00000351094:F1213Y;ENSP00000352208:F1226Y;ENSP00000360556:F1226Y;ENSP00000360557:F1226Y	ENSP00000351094:F1213Y	F	-	2	0	MYOF	95101305	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	2.647000	0.46639	2.284000	0.76573	0.528000	0.53228	TTT		0.413	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		40	152	0	0	0	0	40	152				
COX15	1355	broad.mit.edu	37	10	101480789	101480789	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:101480789A>G	ENST00000016171.5	-	6	837	c.787T>C	c.(787-789)Ttt>Ctt	p.F263L	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.F263L			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	263					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CCATGAGCAAATCGTCTCAAC	0.453																																						uc001kqb.3		NA																	0				ovary(1)	1						c.(787-789)TTT>CTT		COX15 homolog isoform 1							116.0	94.0	102.0					10																	101480789		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101480789A>G	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.787T>C	10.37:g.101480789A>G	ENSP00000016171:p.Phe263Leu					COX15_uc001kqc.3_Missense_Mutation_p.F263L|COX15_uc010qpj.1_Missense_Mutation_p.F84L	p.F263L	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	6	1404	-		Colorectal(252;0.234)	263					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.787T>C	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	A	9.665	1.145146	0.21288	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	T;T	0.80123	-1.34;-1.34	4.93	4.93	0.64822	.	0.153094	0.64402	D	0.000013	T	0.59211	0.2177	N	0.05259	-0.085	0.51012	D	0.999906	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58103	-0.7695	10	0.02654	T	1	-3.1986	14.5982	0.68422	1.0:0.0:0.0:0.0	.	263;263	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	L	263	ENSP00000359514:F263L;ENSP00000016171:F263L	ENSP00000016171:F263L	F	-	1	0	COX15	101470779	1.000000	0.71417	0.971000	0.41717	0.961000	0.63080	6.636000	0.74299	1.846000	0.53633	0.454000	0.30748	TTT		0.453	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		9	41	0	0	0	0	9	41				
FAM160B1	57700	broad.mit.edu	37	10	116605950	116605950	+	Missense_Mutation	SNP	C	C	T	rs17853717		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:116605950C>T	ENST00000369248.4	+	10	1557	c.1222C>T	c.(1222-1224)Ctc>Ttc	p.L408F	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L408F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	408			L -> I (in dbSNP:rs17853717). {ECO:0000269|PubMed:15489334}.							NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GATGGGTATTCTCACATCCAC	0.433																																						uc001lcb.2		NA																	0				lung(1)	1						c.(1222-1224)CTC>TTC		hypothetical protein LOC57700 isoform a							211.0	201.0	204.0					10																	116605950		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116605950C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1222C>T	10.37:g.116605950C>T	ENSP00000358251:p.Leu408Phe					FAM160B1_uc001lcc.2_Missense_Mutation_p.L408F	p.L408F	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			10	1557	+			408					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.1222C>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747167	0.69418	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.34275	1.37;1.37	6.17	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.54807	-0.8238	10	0.29301	T	0.29	-13.5125	11.1366	0.48378	0.1298:0.8047:0.0:0.0655	.	408;408	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	F	408	ENSP00000358251:L408F;ENSP00000358253:L408F	ENSP00000358251:L408F	L	+	1	0	FAM160B1	116595940	0.999000	0.42202	0.993000	0.49108	0.979000	0.70002	2.849000	0.48286	1.602000	0.50124	0.655000	0.94253	CTC		0.433	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		7	420	0	0	0	0	7	420				
ATRNL1	26033	broad.mit.edu	37	10	117061476	117061476	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:117061476G>A	ENST00000355044.3	+	17	2867	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R11Q|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	914	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R914Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTACGAAACGATGTGTTGAC	0.453																																						uc001lcg.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2740-2742)CGA>CAA		attractin-like 1 precursor							294.0	217.0	243.0					10																	117061476		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117061476G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2741G>A	10.37:g.117061476G>A	ENSP00000347152:p.Arg914Gln					ATRNL1_uc010qsm.1_Missense_Mutation_p.R89Q|ATRNL1_uc010qsn.1_RNA	p.R914Q	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	3127	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	914			PSI 4.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2741G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479389	0.63849	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.22945	2.13;1.93	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.978;0.994	T	0.06285	-1.0835	10	0.20519	T	0.43	-5.4211	19.7031	0.96063	0.0:0.0:1.0:0.0	.	11;914	B4DH41;Q5VV63	.;ATRN1_HUMAN	Q	914;11	ENSP00000347152:R914Q;ENSP00000409624:R11Q	ENSP00000347152:R914Q	R	+	2	0	ATRNL1	117051466	1.000000	0.71417	0.142000	0.22268	0.879000	0.50718	7.894000	0.87336	2.664000	0.90586	0.591000	0.81541	CGA		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		29	163	0	0	0	0	29	163				
ADAM8	101	broad.mit.edu	37	10	135083954	135083954	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:135083954G>C	ENST00000445355.3	-	16	1745	c.1695C>G	c.(1693-1695)atC>atG	p.I565M	ADAM8_ENST00000485491.2_Missense_Mutation_p.I526M|ADAM8_ENST00000415217.3_Missense_Mutation_p.I565M|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	565					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCACGATGCAGATGGCACGCC	0.652																																						uc010qva.1		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1576-1578)ATC>ATG		SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);							63.0	59.0	60.0					10																	135083954		2201	4299	6500	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135083954G>C	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1695C>G	10.37:g.135083954G>C	ENSP00000453302:p.Ile565Met					ADAM8_uc010quz.1_Missense_Mutation_p.I565M|ADAM8_uc009ybi.2_Missense_Mutation_p.I565M	p.I526M			P78325	ADAM8_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	15	1629	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	526					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.1578C>G	CCDS31319.2																																																																																				0.652	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		19	65	0	0	0	0	19	65				
EPS8L2	64787	broad.mit.edu	37	11	720157	720157	+	Missense_Mutation	SNP	C	C	G	rs554819887		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:720157C>G	ENST00000533256.1	+	6	636	c.261C>G	c.(259-261)atC>atG	p.I87M	EPS8L2_ENST00000530636.1_Missense_Mutation_p.I87M|EPS8L2_ENST00000526198.1_Missense_Mutation_p.I87M|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.I87M			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	87	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGAAGATCTGGACCCAGG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18024	0.0		0.0	False		,,,				2504	0.001					uc001lqt.2		NA																	0				pancreas(1)	1						c.(259-261)ATC>ATG		epidermal growth factor receptor pathway							79.0	62.0	68.0					11																	720157		2203	4300	6503	SO:0001583	missense	64787					cytoplasm		g.chr11:720157C>G	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.261C>G	11.37:g.720157C>G	ENSP00000435585:p.Ile87Met					EPS8L2_uc010qwj.1_Missense_Mutation_p.I87M|EPS8L2_uc001lqu.2_Missense_Mutation_p.I87M|EPS8L2_uc010qwk.1_Missense_Mutation_p.I87M|EPS8L2_uc001lqv.2_Missense_Mutation_p.I42M|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank	p.I87M	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	508	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	87			PID.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.261C>G	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625225	0.66901	.	.	ENSG00000177106	ENST00000524763;ENST00000318562;ENST00000533256;ENST00000531348;ENST00000530636;ENST00000526198	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	3.81	-0.508	0.11980	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.148028	0.46758	D	0.000269	T	0.62962	0.2471	M	0.75777	2.31	0.44500	D	0.99744	P;D;P	0.67145	0.921;0.996;0.89	P;D;P	0.64506	0.602;0.926;0.739	T	0.61931	-0.6961	10	0.87932	D	0	-23.4801	6.536	0.22355	0.0:0.5388:0.2818:0.1794	.	87;115;87	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	M	87	ENSP00000435128:I87M;ENSP00000320828:I87M;ENSP00000435585:I87M;ENSP00000432765:I87M;ENSP00000436035:I87M;ENSP00000436230:I87M	ENSP00000320828:I87M	I	+	3	3	EPS8L2	710157	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	1.008000	0.29872	0.033000	0.15463	0.511000	0.50034	ATC		0.627	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		9	38	0	0	0	0	9	38				
RHOG	391	broad.mit.edu	37	11	3848803	3848803	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:3848803A>C	ENST00000351018.4	-	2	723	c.566T>G	c.(565-567)aTc>aGc	p.I189S	RHOG_ENST00000396978.1_Missense_Mutation_p.I189S|RHOG_ENST00000533217.1_Missense_Mutation_p.I189S|RHOG_ENST00000396979.1_Missense_Mutation_p.I189S	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	189					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCACAAGAGGATGCAGGACCG	0.627																																						uc001lyu.2		NA																	0					0						c.(565-567)ATC>AGC		ras homolog gene family, member G precursor							38.0	31.0	34.0					11																	3848803		2201	4298	6499	SO:0001583	missense	391				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:3848803A>C	X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"""ras homolog gene family, member G (rho G)"""	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.566T>G	11.37:g.3848803A>C	ENSP00000339467:p.Ile189Ser						p.I189S	NM_001665	NP_001656	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	724	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	189					P35238|Q8NI04	Missense_Mutation	SNP	ENST00000351018.4	37	c.566T>G	CCDS7748.1	.	.	.	.	.	.	.	.	.	.	A	3.637	-0.074403	0.07184	.	.	ENSG00000177105	ENST00000351018;ENST00000396979;ENST00000396978;ENST00000533217	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	4.96	4.96	0.65561	.	0.574270	0.18740	N	0.132469	T	0.40839	0.1133	N	0.05259	-0.085	0.36613	D	0.875317	B	0.06786	0.001	B	0.10450	0.005	T	0.42361	-0.9456	10	0.15066	T	0.55	.	8.0529	0.30587	0.8195:0.0:0.0:0.1804	.	189	P84095	RHOG_HUMAN	S	189	ENSP00000339467:I189S;ENSP00000380176:I189S;ENSP00000380175:I189S;ENSP00000436932:I189S	ENSP00000339467:I189S	I	-	2	0	RHOG	3805379	1.000000	0.71417	0.913000	0.36048	0.226000	0.24999	5.869000	0.69613	2.068000	0.61886	0.533000	0.62120	ATC		0.627	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034125.2	NM_001665		7	30	0	0	0	0	7	30				
FAM111B	374393	broad.mit.edu	37	11	58892771	58892771	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:58892771C>G	ENST00000343597.3	+	4	1392	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	FAM111B_ENST00000529618.1_Missense_Mutation_p.Q371E|FAM111B_ENST00000411426.1_Missense_Mutation_p.Q371E	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	401							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATAATGCATCAGTATCCGAA	0.378																																						uc001nnl.2		NA																	0				ovary(2)	2						c.(1201-1203)CAG>GAG		hypothetical protein LOC374393 isoform a							71.0	77.0	75.0					11																	58892771		2199	4293	6492	SO:0001583	missense	374393						catalytic activity	g.chr11:58892771C>G	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1201C>G	11.37:g.58892771C>G	ENSP00000341565:p.Gln401Glu					FAM111B_uc001nnm.2_Missense_Mutation_p.Q371E|FAM111B_uc010rko.1_Missense_Mutation_p.Q371E	p.Q401E	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	1444	+			401					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1201C>G	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	7.437	0.639860	0.14386	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.29397	1.58;1.58;1.57	3.29	2.33	0.28932	.	0.869827	0.09644	N	0.774616	T	0.22898	0.0553	L	0.28400	0.85	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.20207	-1.0282	10	0.36615	T	0.2	.	9.832	0.40948	0.0:0.708:0.292:0.0	.	401	Q6SJ93	F111B_HUMAN	E	371;371;401	ENSP00000393855:Q371E;ENSP00000432875:Q371E;ENSP00000341565:Q401E	ENSP00000341565:Q401E	Q	+	1	0	FAM111B	58649347	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.586000	0.23894	0.877000	0.35895	0.655000	0.94253	CAG		0.378	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		48	113	0	0	0	0	48	113				
DAGLA	747	broad.mit.edu	37	11	61503242	61503242	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:61503242A>T	ENST00000257215.5	+	12	1360	c.1244A>T	c.(1243-1245)gAg>gTg	p.E415V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	415					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTGATGCTGAGCGCCTCCCC	0.672																																						uc001nsa.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1243-1245)GAG>GTG		neural stem cell-derived dendrite regulator							48.0	43.0	44.0					11																	61503242		2201	4299	6500	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61503242A>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1244A>T	11.37:g.61503242A>T	ENSP00000257215:p.Glu415Val						p.E415V	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	12	1355	+			415			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1244A>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519004	0.85495	.	.	ENSG00000134780	ENST00000257215	T	0.29142	1.58	3.86	3.86	0.44501	.	0.057498	0.64402	D	0.000002	T	0.46112	0.1376	L	0.45744	1.44	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.32640	-0.9899	10	0.36615	T	0.2	-26.8127	13.1284	0.59368	1.0:0.0:0.0:0.0	.	415	Q9Y4D2	DGLA_HUMAN	V	415	ENSP00000257215:E415V	ENSP00000257215:E415V	E	+	2	0	DAGLA	61259818	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.913000	0.75759	1.752000	0.51891	0.379000	0.24179	GAG		0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		6	13	0	0	0	0	6	13				
FAT3	120114	broad.mit.edu	37	11	92531604	92531605	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:92531604_92531605GC>AA	ENST00000298047.6	+	9	5442_5443	c.5425_5426GC>AA	c.(5425-5427)GCt>AAt	p.A1809N	FAT3_ENST00000525166.1_Missense_Mutation_p.A1659N|FAT3_ENST00000409404.2_Missense_Mutation_p.A1809N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1809	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAACCGGAATGCTCTGCTTGTG	0.485										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(5425-5427)GCT>AAT		FAT tumor suppressor homolog 3																																				SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531604_92531605GC>AA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	Exception_encountered	11.37:g.92531604_92531605delinsAA	ENSP00000298047:p.Ala1809Asn	TCGA Ovarian(4;0.039)					p.A1809N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5442_5443	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1809			Cadherin 16.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	DNP	ENST00000298047.6	37	c.5425_5426GC>AA																																																																																					0.485	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	20	0	0	0	0	5	20				
A2M	2	broad.mit.edu	37	12	9222346	9222346	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:9222346C>T	ENST00000318602.7	-	33	4565	c.4258G>A	c.(4258-4260)Gat>Aat	p.D1420N	A2M-AS1_ENST00000499762.1_RNA	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1420					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CTTACCTTATCAAGGTAAATC	0.353																																						uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(4258-4260)GAT>AAT		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						142.0	141.0	142.0					12																	9222346		1978	4208	6186	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9222346C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4258G>A	12.37:g.9222346C>T	ENSP00000323929:p.Asp1420Asn					A2M_uc001qvj.1_Missense_Mutation_p.D462N|A2M_uc009zgk.1_Missense_Mutation_p.D1270N	p.D1420N	NM_000014	NP_000005	P01023	A2MG_HUMAN			33	4371	-			1420					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.4258G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188355	0.78789	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.27402	1.67	5.12	5.12	0.69794	Alpha-macroglobulin, receptor-binding (3);	0.630502	0.16503	N	0.211557	T	0.52773	0.1755	M	0.68317	2.08	0.36545	D	0.8715	D	0.53462	0.96	P	0.59825	0.864	T	0.59284	-0.7483	10	0.56958	D	0.05	.	18.3632	0.90382	0.0:1.0:0.0:0.0	.	1420	P01023	A2MG_HUMAN	N	1420;1435	ENSP00000323929:D1420N	ENSP00000323929:D1420N	D	-	1	0	A2M	9113613	0.999000	0.42202	1.000000	0.80357	0.655000	0.38815	4.101000	0.57769	2.662000	0.90505	0.563000	0.77884	GAT		0.353	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		40	160	0	0	0	0	40	160				
ADCY6	112	broad.mit.edu	37	12	49176910	49176910	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:49176910G>A	ENST00000307885.4	-	1	1002	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ADCY6_ENST00000550422.1_Missense_Mutation_p.T103M|ADCY6_ENST00000357869.3_Missense_Mutation_p.T103M	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	103					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CACCTCAGCCGTCCCGCCCGC	0.697																																						uc001rsh.3		NA																	0					0						c.(307-309)ACG>ATG		adenylate cyclase 6 isoform a							37.0	40.0	39.0					12																	49176910		2202	4298	6500	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49176910G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.308C>T	12.37:g.49176910G>A	ENSP00000311405:p.Thr103Met					ADCY6_uc001rsj.3_Missense_Mutation_p.T103M|ADCY6_uc001rsi.3_Missense_Mutation_p.T103M	p.T103M	NM_015270	NP_056085	O43306	ADCY6_HUMAN			1	968	-			103			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.308C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	1.738	-0.492457	0.04322	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.77489	-1.1;-1.1;-1.1	3.9	0.458	0.16670	.	1.654310	0.03120	N	0.163572	T	0.56046	0.1959	N	0.08118	0	0.09310	N	1	B;B	0.33964	0.434;0.307	B;B	0.25759	0.063;0.029	T	0.52426	-0.8577	10	0.49607	T	0.09	.	4.5393	0.12049	0.3327:0.0:0.5154:0.1519	.	103;103	O43306-2;O43306	.;ADCY6_HUMAN	M	103	ENSP00000350536:T103M;ENSP00000446730:T103M;ENSP00000311405:T103M	ENSP00000311405:T103M	T	-	2	0	ADCY6	47463177	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.511000	0.22739	0.097000	0.17492	0.407000	0.27541	ACG		0.697	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		16	59	0	0	0	0	16	59				
KMT2D	8085	broad.mit.edu	37	12	49434105	49434105	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:49434105G>C	ENST00000301067.7	-	31	7447	c.7448C>G	c.(7447-7449)tCt>tGt	p.S2483C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2483	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGGCTAGAGACCCAGCCTT	0.667																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(7447-7449)TCT>TGT		myeloid/lymphoid or mixed-lineage leukemia 2							28.0	32.0	31.0					12																	49434105		1836	4053	5889	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434105G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7448C>G	12.37:g.49434105G>C	ENSP00000301067:p.Ser2483Cys	HNSCC(34;0.089)					p.S2483C	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	7448	-			2483			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7448C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372972	0.24857	.	.	ENSG00000167548	ENST00000301067	T	0.80393	-1.37	5.21	5.21	0.72293	.	0.436387	0.17172	N	0.184253	T	0.67730	0.2924	N	0.14661	0.345	0.29375	N	0.863738	P	0.41643	0.758	B	0.36186	0.219	T	0.70821	-0.4768	10	0.87932	D	0	.	16.0555	0.80801	0.0:0.0:1.0:0.0	.	2483	O14686	MLL2_HUMAN	C	2483	ENSP00000301067:S2483C	ENSP00000301067:S2483C	S	-	2	0	MLL2	47720372	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	4.334000	0.59291	2.596000	0.87737	0.591000	0.81541	TCT		0.667	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	67	0	0	0	0	8	67				
MYF5	4617	broad.mit.edu	37	12	81111152	81111152	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:81111152G>A	ENST00000228644.3	+	1	462	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.E104K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAGGCTTTCGAAACCCTCAA	0.597																																						uc001szg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(310-312)GAA>AAA		myogenic factor 5							66.0	61.0	63.0					12																	81111152		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111152G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.310G>A	12.37:g.81111152G>A	ENSP00000228644:p.Glu104Lys						p.E104K	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	445	+			104			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.310G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845125	0.91197	.	.	ENSG00000111049	ENST00000228644	D	0.98120	-4.73	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.094659	0.64402	D	0.000001	D	0.97167	0.9074	M	0.73430	2.235	0.80722	D	1	P	0.41131	0.739	B	0.38378	0.272	D	0.97383	0.9984	10	0.87932	D	0	-13.1241	20.6208	0.99490	0.0:0.0:1.0:0.0	.	104	P13349	MYF5_HUMAN	K	104	ENSP00000228644:E104K	ENSP00000228644:E104K	E	+	1	0	MYF5	79635283	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	GAA		0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		25	77	0	0	0	0	25	77				
PPFIA2	8499	broad.mit.edu	37	12	81693145	81693145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:81693145C>A	ENST00000549396.1	-	23	2819	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*	PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.E454*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.E887*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E887*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E734*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.E104*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E887*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E788*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E813*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E872*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E872*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	887					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCCGAGCTTCTTCAAGAAGT	0.383																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(2659-2661)GAA>TAA		PTPRF interacting protein alpha 2							54.0	52.0	53.0					12																	81693145		1819	4095	5914	SO:0001587	stop_gained	8499							g.chr12:81693145C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2659G>T	12.37:g.81693145C>A	ENSP00000450337:p.Glu887*					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.E887*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			23	2820	-			813					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.2659G>T	CCDS55857.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	38|38|38	6.721844|6.721844|6.721844	0.97788|0.97788|0.97788	.|.|.	.|.|.	ENSG00000139220|ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018|ENST00000551147	.|.|.	.|.|.	.|.|.	6.06|6.06|6.06	6.06|6.06|6.06	0.98353|0.98353|0.98353	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.81098|0.81098	.|0.4752|0.4752	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.78443|0.78443	.|-0.2202|-0.2202	.|3|3	0.56958|.|.	D|.|.	0.05|.|.	-19.0221|-19.0221|-19.0221	20.6397|20.6397|20.6397	0.99537|0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	887;872;454;104;813;898;872;887;788;887|20|52	.|.|.	ENSP00000327416:E872X|.|.	E|K|R	-|-|-	1|3|2	0|2|0	PPFIA2|PPFIA2|PPFIA2	80217276|80217276|80217276	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.818000|7.818000|7.818000	0.86416|0.86416|0.86416	2.880000|2.880000|2.880000	0.98712|0.98712|0.98712	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|AAG|AGA		0.383	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			3	13	1	0	0.004672	0.00490017	3	13				
ATP2B1	490	broad.mit.edu	37	12	89995159	89995159	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:89995159T>A	ENST00000428670.3	-	19	3568	c.3112A>T	c.(3112-3114)Ata>Tta	p.I1038L	ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000261173.2_Missense_Mutation_p.I1038L|ATP2B1_ENST00000359142.3_Missense_Mutation_p.I1038L|ATP2B1_ENST00000393164.2_Missense_Mutation_p.I781L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1038					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CACTGTTCTATTGAAAGTTCT	0.308																																						uc001tbh.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3112-3114)ATA>TTA		plasma membrane calcium ATPase 1 isoform 1b							88.0	97.0	94.0					12																	89995159		2203	4298	6501	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89995159T>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3112A>T	12.37:g.89995159T>A	ENSP00000392043:p.Ile1038Leu					ATP2B1_uc001tbg.2_Missense_Mutation_p.I1038L|ATP2B1_uc009zsr.2_5'Flank|ATP2B1_uc001tbf.2_Intron	p.I1038L	NM_001682	NP_001673	P20020	AT2B1_HUMAN			18	3293	-			1038			Helical; (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.3112A>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	5.944	0.358109	0.11239	.	.	ENSG00000070961	ENST00000261173;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D	0.95035	-2.22;-2.22;-2.22;-3.59	5.83	1.19	0.21007	.	0.199700	0.52532	N	0.000079	T	0.79598	0.4473	N	0.02169	-0.655	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.70605	-0.4826	10	0.02654	T	1	-12.1608	9.5547	0.39332	0.0:0.4008:0.0:0.5992	.	1038;1038	P20020-3;P20020-2	.;.	L	1038;1038;1038;781	ENSP00000261173:I1038L;ENSP00000352054:I1038L;ENSP00000392043:I1038L;ENSP00000376869:I781L	ENSP00000261173:I1038L	I	-	1	0	ATP2B1	88519290	0.227000	0.23707	0.993000	0.49108	0.902000	0.53008	-0.122000	0.10627	0.176000	0.19873	0.533000	0.62120	ATA		0.308	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		60	196	0	0	0	0	60	196				
PRKAB1	5564	broad.mit.edu	37	12	120111774	120111774	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:120111774A>G	ENST00000229328.5	+	3	821	c.329A>G	c.(328-330)aAt>aGt	p.N110S	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.N110S	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	110	Glycogen-binding domain. {ECO:0000250}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	TGCAGCCACAATAACTTTGTA	0.522																																						uc009zwu.2		NA																	0					0						c.(328-330)AAT>AGT		AMP-activated protein kinase beta 1	Adenosine monophosphate(DB00131)|Metformin(DB00331)						136.0	125.0	129.0					12																	120111774		2203	4300	6503	SO:0001583	missense	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120111774A>G	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.329A>G	12.37:g.120111774A>G	ENSP00000229328:p.Asn110Ser					PRKAB1_uc001txg.2_Missense_Mutation_p.N110S	p.N110S	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	4	432	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		110					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	ENST00000229328.5	37	c.329A>G	CCDS9191.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357756	0.61403	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	L	0.39633	1.23	0.80722	D	1	B	0.24483	0.104	B	0.25987	0.065	T	0.51124	-0.8745	9	0.32370	T	0.25	-28.7302	16.6438	0.85155	1.0:0.0:0.0:0.0	.	110	Q9Y478	AAKB1_HUMAN	S	110;110;73	.	ENSP00000229328:N110S	N	+	2	0	PRKAB1	118596157	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.116000	0.77119	2.333000	0.79357	0.533000	0.62120	AAT		0.522	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		33	113	0	0	0	0	33	113				
CAMKK2	10645	broad.mit.edu	37	12	121686456	121686456	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:121686456C>G	ENST00000324774.5	-	14	2233	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	CAMKK2_ENST00000545538.1_Missense_Mutation_p.E256Q|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E469Q|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000392474.2_Missense_Mutation_p.E469Q|CAMKK2_ENST00000404169.3_Missense_Mutation_p.E469Q|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E469Q|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000402834.4_Missense_Mutation_p.E469Q|CAMKK2_ENST00000392473.2_Missense_Mutation_p.E469Q|CAMKK2_ENST00000446440.2_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	469					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGACCTCCTCTTCAGTCACT	0.612																																						uc001tzu.2		NA																	0				lung(1)|large_intestine(1)|stomach(1)	3						c.(1405-1407)GAG>CAG		calcium/calmodulin-dependent protein kinase							213.0	161.0	179.0					12																	121686456		2203	4300	6503	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121686456C>G	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1405G>C	12.37:g.121686456C>G	ENSP00000312741:p.Glu469Gln					CAMKK2_uc001tzt.2_Missense_Mutation_p.E469Q|CAMKK2_uc001tzv.2_Missense_Mutation_p.E469Q|CAMKK2_uc001tzw.2_Intron|CAMKK2_uc001tzx.2_Missense_Mutation_p.E469Q|CAMKK2_uc001tzy.2_Intron|CAMKK2_uc001tzz.1_Missense_Mutation_p.E256Q|CAMKK2_uc001uaa.1_Missense_Mutation_p.E469Q|CAMKK2_uc001uab.2_Missense_Mutation_p.E469Q|CAMKK2_uc001uac.2_Intron	p.E469Q	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			14	1529	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		469					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.1405G>C	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216283	0.95104	.	.	ENSG00000110931	ENST00000392474;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000392473	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;1.06;0.76;0.76;0.76	5.64	5.64	0.86602	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.994;0.996;0.996;0.987;0.996	T	0.76438	-0.2959	10	0.87932	D	0	-5.9209	18.7049	0.91633	0.0:1.0:0.0:0.0	.	469;469;256;469;469	Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4;Q96RR4-3	.;.;.;KKCC2_HUMAN;.	Q	469;469;469;256;469;469;452;469	ENSP00000376266:E469Q;ENSP00000336634:E469Q;ENSP00000312741:E469Q;ENSP00000441352:E256Q;ENSP00000388368:E469Q;ENSP00000384600:E469Q;ENSP00000376265:E469Q	ENSP00000312741:E469Q	E	-	1	0	CAMKK2	120170839	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.263000	0.78421	2.667000	0.90743	0.655000	0.94253	GAG		0.612	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		34	204	0	0	0	0	34	204				
MTUS2	23281	broad.mit.edu	37	13	29599467	29599467	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:29599467G>T	ENST00000431530.3	+	1	720	c.662G>T	c.(661-663)gGg>gTg	p.G221V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	211						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGATACCTGGGGGTGGGGAG	0.607																																						uc001usl.3		NA																	0					0						c.(661-663)GGG>GTG		hypothetical protein LOC23281 isoform a							35.0	39.0	38.0					13																	29599467		2194	4291	6485	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599467G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.662G>T	13.37:g.29599467G>T	ENSP00000392057:p.Gly221Val						p.G221V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	720	+			211					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.662G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	14.52	2.559857	0.45590	.	.	ENSG00000132938	ENST00000431530	T	0.13778	2.56	5.39	-2.4	0.06583	.	1.407590	0.04717	N	0.418564	T	0.10165	0.0249	L	0.43152	1.355	0.09310	N	1	B	0.29988	0.264	B	0.28011	0.085	T	0.28776	-1.0033	9	.	.	.	.	1.5469	0.02567	0.3357:0.2236:0.3262:0.1145	.	211	Q5JR59	MTUS2_HUMAN	V	221	ENSP00000392057:G221V	.	G	+	2	0	MTUS2	28497467	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	0.269000	0.18589	-0.558000	0.06118	0.561000	0.74099	GGG		0.607	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		9	34	1	0	6.4e-05	7.08e-05	9	34				
TRPC4	7223	broad.mit.edu	37	13	38320380	38320380	+	Silent	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:38320380G>C	ENST00000379705.3	-	3	1448	c.591C>G	c.(589-591)ctC>ctG	p.L197L	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Silent_p.L197L|TRPC4_ENST00000358477.2_Silent_p.L197L|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Silent_p.L197L|TRPC4_ENST00000447043.1_Silent_p.L197L|TRPC4_ENST00000355779.2_Silent_p.L197L|TRPC4_ENST00000379681.3_Silent_p.L197L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	197					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGTAGATGTTGAGTCTGGAGC	0.527																																						uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(589-591)CTC>CTG		transient receptor potential cation channel,							99.0	86.0	91.0					13																	38320380		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320380G>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.591C>G	13.37:g.38320380G>C						TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Silent_p.L197L|TRPC4_uc010tey.1_Silent_p.L197L|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Silent_p.L197L|TRPC4_uc010aby.2_Silent_p.L197L	p.L197L	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	826	-			197			Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.591C>G	CCDS9365.1																																																																																				0.527	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		26	76	0	0	0	0	26	76				
SLAIN1	122060	broad.mit.edu	37	13	78320898	78320898	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:78320898C>T	ENST00000466548.1	+	5	1126	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	SLAIN1_ENST00000488699.1_Missense_Mutation_p.S225F|SLAIN1_ENST00000267219.8_Missense_Mutation_p.S148F|SLAIN1_ENST00000418532.1_Missense_Mutation_p.S148F|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Missense_Mutation_p.S104F|SLAIN1_ENST00000351546.3_Missense_Mutation_p.S104F	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	367										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AGCCCCAGTTCCCAGTATTTT	0.478																																						uc010thy.1		NA																	0				ovary(1)|skin(1)	2						c.(673-675)TCC>TTC		SLAIN motif family, member 1 B							86.0	89.0	88.0					13																	78320898		2203	4300	6503	SO:0001583	missense	122060							g.chr13:78320898C>T	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1100C>T	13.37:g.78320898C>T	ENSP00000419730:p.Ser367Phe					SLAIN1_uc001vkk.1_Missense_Mutation_p.S148F|SLAIN1_uc001vkl.1_Missense_Mutation_p.S104F|SLAIN1_uc010thz.1_Missense_Mutation_p.S103F|SLAIN1_uc010aex.1_Intron|SLAIN1_uc010aey.1_Intron|SLAIN1_uc001vkm.2_Missense_Mutation_p.S104F	p.S225F	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	4	717	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	367					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37	c.674C>T		.	.	.	.	.	.	.	.	.	.	C	26.3	4.721784	0.89298	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000442759;ENST00000446759;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000496045;ENST00000474663;ENST00000358679	.	.	.	6.02	6.02	0.97574	.	0.463945	0.26251	N	0.025458	T	0.68961	0.3058	L	0.50333	1.59	0.80722	D	1	P;P;B	0.45212	0.853;0.853;0.384	P;P;B	0.49999	0.628;0.628;0.405	T	0.63541	-0.6614	8	.	.	.	-10.8081	20.5195	0.99215	0.0:1.0:0.0:0.0	.	103;225;367	B7Z326;B7Z209;Q8ND83	.;.;SLAI1_HUMAN	F	367;367;148;148;198;225;148;104;104;104;104;104	.	.	S	+	2	0	SLAIN1	77218899	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.420000	0.80191	2.855000	0.98099	0.655000	0.94253	TCC		0.478	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		54	97	0	0	0	0	54	97				
OR4N2	390429	broad.mit.edu	37	14	20296147	20296147	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:20296147T>A	ENST00000315947.1	+	1	540	c.540T>A	c.(538-540)gaT>gaA	p.D180E	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCTGTGATGTCCCACAGG	0.542																																						uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(538-540)GAT>GAA		olfactory receptor, family 4, subfamily N,							139.0	143.0	141.0					14																	20296147		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296147T>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.540T>A	14.37:g.20296147T>A	ENSP00000319601:p.Asp180Glu						p.D180E	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	540	+	all_cancers(95;0.00108)		180			Extracellular (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.540T>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	19.65	3.867509	0.72065	.	.	ENSG00000176294	ENST00000315947	T	0.00048	8.82	4.52	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000093	T	0.00300	0.0009	L	0.55103	1.725	0.26530	N	0.974271	D	0.89917	1.0	D	0.97110	1.0	T	0.47100	-0.9143	10	0.87932	D	0	-10.2646	5.1515	0.15011	0.0:0.2019:0.0:0.7981	.	180	Q8NGD1	OR4N2_HUMAN	E	180	ENSP00000319601:D180E	ENSP00000319601:D180E	D	+	3	2	OR4N2	19365987	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.010000	0.03656	2.008000	0.58898	0.477000	0.44152	GAT		0.542	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			84	135	0	0	0	0	84	135				
HOMEZ	57594	broad.mit.edu	37	14	23746104	23746104	+	Silent	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:23746104A>G	ENST00000357460.5	-	2	497	c.333T>C	c.(331-333)ggT>ggC	p.G111G	HOMEZ_ENST00000561013.1_Silent_p.G113G|HOMEZ_ENST00000431326.2_Silent_p.G113G	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCAGCTAATACCACAGCGGA	0.498																																						uc001wja.2		NA																	0					0						c.(331-333)GGT>GGC		homeodomain leucine zipper protein							168.0	162.0	164.0					14																	23746104		1909	4120	6029	SO:0001819	synonymous_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746104A>G	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.333T>C	14.37:g.23746104A>G						HOMEZ_uc001wjb.2_Silent_p.G113G	p.G111G	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	481	-	all_cancers(95;5.54e-06)		111			Homeobox 1.		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	c.333T>C	CCDS45085.1																																																																																				0.498	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		6	244	0	0	0	0	6	244				
RBM25	58517	broad.mit.edu	37	14	73566382	73566382	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:73566382T>G	ENST00000261973.7	+	9	1076	c.791T>G	c.(790-792)aTa>aGa	p.I264R	RBM25_ENST00000527432.1_Missense_Mutation_p.I264R|RBM25_ENST00000540173.1_Missense_Mutation_p.I264R|RBM25_ENST00000526754.1_Missense_Mutation_p.I264R|RBM25_ENST00000525321.1_Missense_Mutation_p.I264R	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	264					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TAGGAGGATATAAATGCTATA	0.358																																						uc001xno.2		NA																	0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(790-792)ATA>AGA		RNA binding motif protein 25							122.0	127.0	126.0					14																	73566382		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73566382T>G	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.791T>G	14.37:g.73566382T>G	ENSP00000261973:p.Ile264Arg					RBM25_uc001xnn.3_Missense_Mutation_p.I264R|RBM25_uc010ttu.1_Missense_Mutation_p.I264R|RBM25_uc001xnp.2_Missense_Mutation_p.I59R	p.I264R	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	9	999	+			264					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.791T>G	CCDS32113.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.48|14.48	2.548582|2.548582	0.45383|0.45383	.|.	.|.	ENSG00000119707|ENSG00000119707	ENST00000261973;ENST00000540173;ENST00000527432;ENST00000525321;ENST00000526754|ENST00000532192	T;T;T;T;T|.	0.37752|.	3.47;1.35;3.47;1.18;1.35|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.63780|.	0.2540|.	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.969;0.998|.	P;D|.	0.70227|.	0.737;0.968|.	T|.	0.62534|.	-0.6834|.	10|.	0.20046|.	T|.	0.44|.	.|.	13.4389|13.4389	0.61101|0.61101	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	264;264|.	P49756;P49756-2|.	RBM25_HUMAN;.|.	R|E	264|43	ENSP00000261973:I264R;ENSP00000437934:I264R;ENSP00000431150:I264R;ENSP00000436868:I264R;ENSP00000436225:I264R|.	ENSP00000261973:I264R|.	I|X	+|+	2|1	0|0	RBM25|RBM25	72636135|72636135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.005000|8.005000	0.88553|0.88553	1.918000|1.918000	0.55548|0.55548	0.397000|0.397000	0.26171|0.26171	ATA|TAA		0.358	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		22	156	0	0	0	0	22	156				
HEATR4	399671	broad.mit.edu	37	14	73973233	73973234	+	Nonsense_Mutation	DNP	GA	GA	TT			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:73973233_73973234GA>TT	ENST00000553558.1	-	10	2244_2245	c.1923_1924TC>AA	c.(1921-1926)tgTCaa>tgAAaa	p.641_642CQ>*K	HEATR4_ENST00000334988.2_Nonsense_Mutation_p.641_642CQ>*K|HEATR4_ENST00000560393.1_Nonsense_Mutation_p.594_595CQ>*K	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	641										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTCTTCCATTGACAGCTGTTCA	0.465																																						uc010tub.1		NA																	0				ovary(1)	1						c.(1921-1926)TGTCAA>TGAAAA		HEAT repeat containing 4																																				SO:0001587	stop_gained	399671							g.chr14:73973233_73973234GA>TT	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1923_1924delinsTT	14.37:g.73973233_73973234delinsTT	ENSP00000450444:p.C641_Q642delins*K					HEATR4_uc010tua.1_Nonsense_Mutation_p.594_595CQ>*K	p.641_642CQ>*K	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	10	2245_2246	-								B7Z7V9|E9KL41	Nonsense_Mutation	DNP	ENST00000553558.1	37	c.1923_1924TC>AA	CCDS9815.2																																																																																				0.465	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		33	169	0	0	0	0	33	169				
NEK9	91754	broad.mit.edu	37	14	75562095	75562095	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:75562095C>T	ENST00000238616.5	-	18	2371	c.2213G>A	c.(2212-2214)aGt>aAt	p.S738N		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	738	Interaction with NEK6.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GGATAAGCCACTGCTATTGGA	0.388																																						uc001xrl.2		NA																	0				lung(2)|stomach(2)|ovary(1)	5						c.(2212-2214)AGT>AAT		NIMA-related kinase 9							86.0	84.0	85.0					14																	75562095		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75562095C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2213G>A	14.37:g.75562095C>T	ENSP00000238616:p.Ser738Asn					NEK9_uc001xrk.2_Missense_Mutation_p.S238N	p.S738N	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	18	2367	-			738			Interaction with NEK6.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.2213G>A	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	C	36	5.650833	0.96714	.	.	ENSG00000119638	ENST00000238616	T	0.74002	-0.8	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	L	0.27053	0.805	0.58432	D	0.999996	D;D	0.71674	0.979;0.998	P;D	0.65684	0.679;0.937	T	0.80558	-0.1329	10	0.56958	D	0.05	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	738;81	Q8TD19;Q6PKF2	NEK9_HUMAN;.	N	738	ENSP00000238616:S738N	ENSP00000238616:S738N	S	-	2	0	NEK9	74631848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.089000	0.71384	2.745000	0.94114	0.655000	0.94253	AGT		0.388	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		7	105	0	0	0	0	7	105				
CYP46A1	10858	broad.mit.edu	37	14	100187605	100187605	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:100187605G>A	ENST00000261835.3	+	11	1114	c.1010G>A	c.(1009-1011)gGt>gAt	p.G337D	CYP46A1_ENST00000423126.2_Missense_Mutation_p.G240D|CYP46A1_ENST00000554176.1_Missense_Mutation_p.G184D	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	337					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAGGTCATTGGTTCTAAGAGG	0.547																																						uc001ygo.2		NA																	0					0						c.(1009-1011)GGT>GAT		cytochrome P450, family 46							147.0	117.0	127.0					14																	100187605		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100187605G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1010G>A	14.37:g.100187605G>A	ENSP00000261835:p.Gly337Asp					CYP46A1_uc001ygp.2_Missense_Mutation_p.G184D	p.G337D	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			11	1010	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	337					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.1010G>A	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.005138|4.005138	0.74932|0.74932	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313|ENST00000380228	T;D;D;D|.	0.82526|.	-0.7;-1.62;-1.62;-1.62|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61825|.	0.2378|.	L|L	0.47716|0.47716	1.5|1.5	0.53005|0.53005	D|D	0.999961|0.999961	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.995;1.0|.	T|.	0.58335|.	-0.7654|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.3519|14.3519	0.66708|0.66708	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	184;337|.	Q8N2B0;Q9Y6A2|.	.;CP46A_HUMAN|.	D|X	337;240;184;90|323	ENSP00000261835:G337D;ENSP00000405779:G240D;ENSP00000450553:G184D;ENSP00000451602:G90D|.	ENSP00000261835:G337D|.	G|W	+|+	2|3	0|0	CYP46A1|CYP46A1	99257358|99257358	1.000000|1.000000	0.71417|0.71417	0.263000|0.263000	0.24496|0.24496	0.992000|0.992000	0.81027|0.81027	6.463000|6.463000	0.73530|0.73530	2.536000|2.536000	0.85505|0.85505	0.561000|0.561000	0.74099|0.74099	GGT|TGG		0.547	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			16	75	0	0	0	0	16	75				
MAPKBP1	23005	broad.mit.edu	37	15	42113097	42113097	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr15:42113097G>A	ENST00000456763.2	+	24	2763	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R850H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R733H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R689H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R850H	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	856										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGAAGAGGGCGCTGGGTTCAG	0.637																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(2566-2568)CGC>CAC		mitogen-activated protein kinase binding protein							39.0	39.0	39.0					15																	42113097		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42113097G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2567G>A	15.37:g.42113097G>A	ENSP00000393099:p.Arg856His					MAPKBP1_uc001zoj.3_Missense_Mutation_p.R850H|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R357H|MAPKBP1_uc010bci.2_Missense_Mutation_p.R850H|MAPKBP1_uc010udb.1_Missense_Mutation_p.R689H|MAPKBP1_uc010bck.2_Missense_Mutation_p.R67H|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R357H	p.R856H	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	24	2853	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	856					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.2567G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	33	5.270071	0.95429	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.60299	0.49;0.56;0.2;0.53;0.83	5.11	5.11	0.69529	.	0.102146	0.64402	D	0.000001	T	0.68586	0.3017	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.996;0.998;0.999	T	0.71790	-0.4486	10	0.87932	D	0	-17.85	18.7328	0.91742	0.0:0.0:1.0:0.0	.	689;733;689;850;856;850	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	H	850;733;689;856;850	ENSP00000397570:R850H;ENSP00000221214:R733H;ENSP00000260357:R689H;ENSP00000393099:R856H;ENSP00000426154:R850H	ENSP00000221214:R733H	R	+	2	0	MAPKBP1	39900389	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.598000	0.67585	2.652000	0.90054	0.655000	0.94253	CGC		0.637	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		13	52	0	0	0	0	13	52				
FAM227B	196951	broad.mit.edu	37	15	49882141	49882141	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr15:49882141T>C	ENST00000299338.6	-	4	472	c.169A>G	c.(169-171)Ata>Gta	p.I57V	FAM227B_ENST00000560246.1_Missense_Mutation_p.I57V|FAM227B_ENST00000561064.1_Missense_Mutation_p.I57V|FAM227B_ENST00000558594.1_Missense_Mutation_p.I57V|FAM227B_ENST00000558862.1_5'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	57				I -> M (in Ref. 1; BAB71451). {ECO:0000305}.													TCTTCTTTTATTTTTTTCAGA	0.318																																						uc001zxl.2		NA																	0				ovary(1)	1						c.(169-171)ATA>GTA		hypothetical protein LOC196951							48.0	53.0	52.0					15																	49882141		2193	4285	6478	SO:0001583	missense	196951							g.chr15:49882141T>C		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.169A>G	15.37:g.49882141T>C	ENSP00000299338:p.Ile57Val					C15orf33_uc001zxm.2_Missense_Mutation_p.I57V	p.I57V	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	4	463	-		all_lung(180;0.00187)	57	I -> M (in Ref. 1; BAB71451).				Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.169A>G	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	T	8.965	0.971572	0.18736	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.62	-1.05	0.10036	.	0.481260	0.19316	N	0.117280	T	0.23965	0.0580	L	0.38531	1.155	0.33112	D	0.540581	P;P	0.37955	0.612;0.612	B;B	0.37692	0.256;0.256	T	0.19451	-1.0305	9	0.27082	T	0.32	3.803	1.7105	0.02891	0.1616:0.1002:0.3568:0.3814	.	57;57	Q96M60-2;Q96M60	.;CO033_HUMAN	V	57	.	ENSP00000299338:I57V	I	-	1	0	C15orf33	47669433	0.036000	0.19791	0.292000	0.24919	0.532000	0.34746	-0.251000	0.08818	0.022000	0.15160	0.482000	0.46254	ATA		0.318	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		26	129	0	0	0	0	26	129				
CILP	8483	broad.mit.edu	37	15	65494259	65494259	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr15:65494259C>G	ENST00000261883.4	-	8	1303	c.1137G>C	c.(1135-1137)caG>caC	p.Q379H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	379	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGCATCACTCTGGGCCTTGC	0.572																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1135-1137)CAG>CAC		cartilage intermediate layer protein							77.0	69.0	72.0					15																	65494259		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65494259C>G	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1137G>C	15.37:g.65494259C>G	ENSP00000261883:p.Gln379His						p.Q379H	NM_003613	NP_003604	O75339	CILP1_HUMAN			8	1318	-			379			Ig-like C2-type.		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1137G>C	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737665	0.49045	.	.	ENSG00000138615	ENST00000261883	T	0.12255	2.7	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.536182	0.22661	N	0.057186	T	0.11410	0.0278	L	0.35341	1.055	0.35830	D	0.825221	B	0.32160	0.358	B	0.34489	0.184	T	0.15321	-1.0441	10	0.36615	T	0.2	-9.2058	8.8743	0.35337	0.0:0.7583:0.1622:0.0795	.	379	O75339	CILP1_HUMAN	H	379	ENSP00000261883:Q379H	ENSP00000261883:Q379H	Q	-	3	2	CILP	63281312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.849000	0.27723	2.852000	0.98041	0.643000	0.83706	CAG		0.572	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		11	46	0	0	0	0	11	46				
SEPT12	124404	broad.mit.edu	37	16	4835848	4835848	+	Missense_Mutation	SNP	C	C	G	rs141666105		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:4835848C>G	ENST00000268231.8	-	4	597	c.334G>C	c.(334-336)Gac>Cac	p.D112H	SMIM22_ENST00000589327.1_5'Flank|SMIM22_ENST00000589721.1_5'Flank|SEPT12_ENST00000396693.5_Missense_Mutation_p.D112H|SEPT12_ENST00000591861.1_5'UTR	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	112	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.D112N(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCGGGCGTGTCCGTCACCGTC	0.547																																						uc002cxq.2		NA																	1	Substitution - Missense(1)	p.D112N(1)	skin(1)	skin(1)	1						c.(334-336)GAC>CAC		septin 12 isoform 2							85.0	82.0	83.0					16																	4835848		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4835848C>G	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.334G>C	16.37:g.4835848C>G	ENSP00000268231:p.Asp112His					SEPT12_uc002cxr.2_Missense_Mutation_p.D112H|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank	p.D112H	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			4	475	-			112					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.334G>C	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357675	0.82243	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	D;T	0.93859	-3.3;-1.44	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99246	1.0886	10	0.87932	D	0	.	16.1826	0.81920	0.0:1.0:0.0:0.0	.	112;112	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	H	112	ENSP00000379922:D112H;ENSP00000268231:D112H	ENSP00000268231:D112H	D	-	1	0	SEPT12	4775849	1.000000	0.71417	0.928000	0.36995	0.846000	0.48090	7.538000	0.82048	2.382000	0.81193	0.453000	0.30009	GAC		0.547	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		24	88	0	0	0	0	24	88				
SMG1	23049	broad.mit.edu	37	16	18852958	18852958	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:18852958C>A	ENST00000446231.2	-	41	7037	c.6625G>T	c.(6625-6627)Gat>Tat	p.D2209Y	SMG1_ENST00000389467.3_Missense_Mutation_p.D2209Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2209	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTGGCTCCATCTACCCACTGG	0.433																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(6625-6627)GAT>TAT		PI-3-kinase-related kinase SMG-1							208.0	198.0	202.0					16																	18852958		1965	4151	6116	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18852958C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6625G>T	16.37:g.18852958C>A	ENSP00000402515:p.Asp2209Tyr					SMG1_uc010bwb.2_Missense_Mutation_p.D2069Y|SMG1_uc010bwa.2_Missense_Mutation_p.D940Y|SMG1_uc002dfo.3_Missense_Mutation_p.D507Y	p.D2209Y	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			41	6988	-			2209			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6625G>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291744	0.80914	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.78126	-1.15;-1.15	5.48	5.48	0.80851	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.64402	D	0.000001	D	0.91071	0.7190	M	0.91663	3.23	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92459	0.5976	10	0.87932	D	0	.	19.7139	0.96107	0.0:1.0:0.0:0.0	.	2069;2209	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	Y	2209	ENSP00000402515:D2209Y;ENSP00000374118:D2209Y	ENSP00000374118:D2209Y	D	-	1	0	SMG1	18760459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.715000	0.84713	2.722000	0.93159	0.655000	0.94253	GAT		0.433	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		47	171	1	0	4.01e-20	4.79e-20	47	171				
CETP	1071	broad.mit.edu	37	16	56996954	56996954	+	Missense_Mutation	SNP	G	G	T	rs549487844		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:56996954G>T	ENST00000200676.3	+	2	281	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	CETP_ENST00000379780.2_Missense_Mutation_p.A51S|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2			cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GATCCAGACCGCCTTCCAGCG	0.622																																						uc002eki.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(151-153)GCC>TCC		cholesteryl ester transfer protein, plasma							97.0	72.0	80.0					16																	56996954		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:56996954G>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000200676.3:c.151G>T	16.37:g.56996954G>T	ENSP00000200676:p.Ala51Ser					CETP_uc002ekj.2_Missense_Mutation_p.A51S	p.A51S	NM_000078	NP_000069	P11597	CETP_HUMAN			2	208	+			51						Missense_Mutation	SNP	ENST00000200676.3	37	c.151G>T	CCDS10772.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823135	0.32237	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.05513	3.43;3.43	4.68	4.68	0.58851	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.138996	0.47852	U	0.000208	T	0.09818	0.0241	N	0.24115	0.695	0.80722	D	1	D;B	0.59767	0.986;0.271	P;B	0.54401	0.751;0.382	T	0.25502	-1.0130	10	0.40728	T	0.16	-17.9904	14.3079	0.66395	0.0:0.0:1.0:0.0	.	51;51	P11597-2;P11597	.;CETP_HUMAN	S	51	ENSP00000200676:A51S;ENSP00000369106:A51S	ENSP00000200676:A51S	A	+	1	0	CETP	55554455	0.970000	0.33590	0.067000	0.19924	0.028000	0.11728	6.237000	0.72345	2.125000	0.65367	0.591000	0.81541	GCC		0.622	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257059.1	NM_000078		12	67	1	0	1.36e-13	1.59e-13	12	67				
ZFPM1	161882	broad.mit.edu	37	16	88598565	88598565	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:88598565C>T	ENST00000319555.3	+	7	1190	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	290					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCCCAACGAGCGCGTCTGCCC	0.716																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NA																	0				central_nervous_system(1)	1						c.(868-870)CGC>TGC		zinc finger protein, multitype 1							45.0	41.0	43.0					16																	88598565		2198	4298	6496	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88598565C>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.868C>T	16.37:g.88598565C>T	ENSP00000326630:p.Arg290Cys						p.R290C	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	901	+			290			C2H2-type 1.			Missense_Mutation	SNP	ENST00000319555.3	37	c.868C>T	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	c	11.81	1.750309	0.30955	.	.	ENSG00000179588	ENST00000319555	T	0.09630	2.96	4.65	3.65	0.41850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.214709	0.36101	U	0.002795	T	0.20210	0.0486	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.00880	-1.1529	10	0.87932	D	0	-16.7057	11.8759	0.52548	0.4156:0.5843:0.0:0.0	.	290	Q8IX07	FOG1_HUMAN	C	290	ENSP00000326630:R290C	ENSP00000326630:R290C	R	+	1	0	ZFPM1	87126066	1.000000	0.71417	0.979000	0.43373	0.100000	0.18952	1.629000	0.37071	2.152000	0.67230	0.299000	0.19835	CGC		0.716	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			7	46	0	0	0	0	7	46				
CDH15	1013	broad.mit.edu	37	16	89254553	89254553	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:89254553C>T	ENST00000289746.2	+	7	903	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGATGTGGGACGCCTGGAAGT	0.647																																						uc002fmt.2		NA																	0				skin(1)	1						c.(838-840)CGC>TGC		cadherin 15 preproprotein							51.0	48.0	49.0					16																	89254553		2198	4300	6498	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89254553C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.838C>T	16.37:g.89254553C>T	ENSP00000289746:p.Arg280Cys						p.R280C	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	7	915	+			280			Cadherin 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.838C>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480183	0.44044	.	.	ENSG00000129910	ENST00000289746	T	0.55052	0.54	4.45	3.38	0.38709	Cadherin (3);Cadherin-like (1);	0.116440	0.33650	N	0.004693	T	0.70386	0.3218	M	0.79475	2.455	0.58432	D	0.999996	D	0.89917	1.0	D	0.78314	0.991	T	0.75334	-0.3354	10	0.87932	D	0	.	12.4655	0.55755	0.2559:0.7441:0.0:0.0	.	280	P55291	CAD15_HUMAN	C	280	ENSP00000289746:R280C	ENSP00000289746:R280C	R	+	1	0	CDH15	87782054	0.038000	0.19896	0.904000	0.35570	0.413000	0.31143	0.278000	0.18753	2.051000	0.60960	0.449000	0.29647	CGC		0.647	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		4	40	0	0	0	0	4	40				
ANKRD11	29123	broad.mit.edu	37	16	89351208	89351208	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:89351208G>C	ENST00000301030.4	-	9	2202	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S581C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	581	Ser-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAGCCCTCAGAGGAGTAGTC	0.547																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1741-1743)TCT>TGT		ankyrin repeat domain 11							29.0	30.0	30.0					16																	89351208		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89351208G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1742C>G	16.37:g.89351208G>C	ENSP00000301030:p.Ser581Cys					ANKRD11_uc002fmy.1_Missense_Mutation_p.S581C|ANKRD11_uc002fnc.1_Missense_Mutation_p.S581C|ANKRD11_uc002fnb.1_Missense_Mutation_p.S538C	p.S581C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2203	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	581			Ser-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1742C>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099237	0.76983	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.41400	1.0;1.0	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	T	0.63915	-0.6529	10	0.45353	T	0.12	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	200;581	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	C	581;581;200	ENSP00000301030:S581C;ENSP00000367581:S581C	ENSP00000301030:S581C	S	-	2	0	ANKRD11	87878709	1.000000	0.71417	0.951000	0.38953	0.946000	0.59487	9.357000	0.97099	2.698000	0.92095	0.561000	0.74099	TCT		0.547	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		12	69	0	0	0	0	12	69				
GAS7	8522	broad.mit.edu	37	17	9820581	9820581	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:9820581C>G	ENST00000432992.2	-	14	1555	c.1395G>C	c.(1393-1395)aaG>aaC	p.K465N	GAS7_ENST00000542249.1_Missense_Mutation_p.K401N|GAS7_ENST00000437099.2_Missense_Mutation_p.K401N|GAS7_ENST00000540214.1_Missense_Mutation_p.K170N|GAS7_ENST00000580865.1_Missense_Mutation_p.K325N|GAS7_ENST00000585266.1_Missense_Mutation_p.K405N|GAS7_ENST00000579158.1_Missense_Mutation_p.K401N|GAS7_ENST00000396115.2_Missense_Mutation_p.K170N|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.K405N	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	465					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTTGCCCGTCTTGTGCTCTC	0.627			T	MLL	AML*																																	uc002gmg.1		NA		Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				lung(1)|pancreas(1)	2						c.(1393-1395)AAG>AAC		growth arrest-specific 7 isoform c							156.0	119.0	131.0					17																	9820581		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9820581C>G	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1395G>C	17.37:g.9820581C>G	ENSP00000407552:p.Lys465Asn					GAS7_uc010vvc.1_Missense_Mutation_p.K279N|GAS7_uc002gmh.1_Missense_Mutation_p.K325N|GAS7_uc010vvd.1_Missense_Mutation_p.K417N|GAS7_uc002gmi.2_Missense_Mutation_p.K401N|GAS7_uc002gmj.1_Missense_Mutation_p.K405N|GAS7_uc010coh.1_Missense_Mutation_p.K405N	p.K465N	NM_201433	NP_958839	O60861	GAS7_HUMAN			14	1556	-			465					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.1395G>C	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819385	0.32145	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.46063	0.88;0.88	5.17	1.35	0.21983	.	0.107611	0.64402	D	0.000008	T	0.26738	0.0654	L	0.27053	0.805	0.50039	D	0.999842	B;B;B;B	0.14805	0.006;0.003;0.01;0.011	B;B;B;B	0.14023	0.005;0.003;0.01;0.005	T	0.04946	-1.0916	10	0.49607	T	0.09	10.4227	7.9523	0.30023	0.0:0.5112:0.0:0.4888	.	417;405;325;465	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	N	465;405;404;325;170;405;114;279	ENSP00000379421:K405N;ENSP00000446214:K170N	ENSP00000322608:K465N	K	-	3	2	GAS7	9761306	0.999000	0.42202	0.999000	0.59377	0.923000	0.55619	0.586000	0.23894	0.111000	0.17947	-0.367000	0.07326	AAG		0.627	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		17	68	0	0	0	0	17	68				
TMIGD1	388364	broad.mit.edu	37	17	28645840	28645840	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:28645840C>T	ENST00000328886.4	-	5	804	c.732G>A	c.(730-732)aaG>aaA	p.K244K	TMIGD1_ENST00000538566.2_Intron	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	244						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TCATTATTTTCTTTCTTCTAG	0.353																																						uc002hfa.1		NA																	0					0						c.(730-732)AAG>AAA		transmembrane and immunoglobulin domain							123.0	116.0	118.0					17																	28645840		2203	4300	6503	SO:0001819	synonymous_variant	388364					integral to membrane		g.chr17:28645840C>T	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.732G>A	17.37:g.28645840C>T						TMIGD1_uc010csh.1_Intron	p.K244K	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN			5	805	-			244			Cytoplasmic (Potential).		A8K2K1|Q6ZMC6	Silent	SNP	ENST00000328886.4	37	c.732G>A	CCDS32605.1																																																																																				0.353	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		28	104	0	0	0	0	28	104				
ASIC2	40	broad.mit.edu	37	17	32483260	32483260	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:32483260G>A	ENST00000359872.6	-	1	1053	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	98					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CTGGAGAACCGGAAGCCATTC	0.582																																						uc002hhu.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(292-294)CGG>TGG		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						72.0	80.0	77.0					17																	32483260		2183	4284	6467	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483260G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.292C>T	17.37:g.32483260G>A	ENSP00000352934:p.Arg98Trp						p.R98W	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	566	-		Breast(31;0.042)|Ovarian(249;0.202)	98			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.292C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159276	0.78226	.	.	ENSG00000108684	ENST00000359872	T	0.68331	-0.32	4.96	4.96	0.65561	.	.	.	.	.	D	0.85630	0.5741	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89033	0.3443	9	0.87932	D	0	.	15.7471	0.77955	0.0:0.0:1.0:0.0	.	98	Q16515	ACCN1_HUMAN	W	98	ENSP00000352934:R98W	ENSP00000352934:R98W	R	-	1	2	ACCN1	29507373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.547000	0.73892	2.559000	0.86315	0.655000	0.94253	CGG		0.582	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		15	46	0	0	0	0	15	46				
FAM134C	162427	broad.mit.edu	37	17	40761276	40761276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:40761276G>A	ENST00000309428.5	-	1	126	c.67C>T	c.(67-69)Cga>Tga	p.R23*	TUBG1_ENST00000251413.3_5'Flank|FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	23						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GACACATCTCGGCGGCCCCTG	0.711																																						uc002ial.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(67-69)CGA>TGA		hypothetical protein LOC162427							14.0	19.0	17.0					17																	40761276		2141	4220	6361	SO:0001587	stop_gained	162427					integral to membrane		g.chr17:40761276G>A	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.67C>T	17.37:g.40761276G>A	ENSP00000309432:p.Arg23*					TUBG1_uc002ian.2_5'Flank|FAM134C_uc010wgq.1_5'UTR|FAM134C_uc002iam.1_5'UTR|FAM134C_uc010cyk.1_Intron	p.R23*	NM_178126	NP_835227	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	1	170	-		Breast(137;0.00116)	23					B3KR75	Nonsense_Mutation	SNP	ENST00000309428.5	37	c.67C>T	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533909	0.64972	.	.	ENSG00000141699	ENST00000309428	.	.	.	5.17	0.49	0.16861	.	0.238237	0.42964	D	0.000624	.	.	.	.	.	.	0.43107	D	0.994803	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1919	12.414	0.55483	0.0685:0.3742:0.5572:0.0	.	.	.	.	X	23	.	ENSP00000309432:R23X	R	-	1	2	FAM134C	38014802	0.996000	0.38824	0.247000	0.24249	0.213000	0.24496	0.878000	0.28126	0.303000	0.22785	0.561000	0.74099	CGA		0.711	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		29	20	0	0	0	0	29	20				
RGS9	8787	broad.mit.edu	37	17	63156694	63156694	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:63156694A>G	ENST00000262406.9	+	5	420	c.353A>G	c.(352-354)gAt>gGt	p.D118G	RGS9_ENST00000443584.3_Missense_Mutation_p.D118G|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000449996.3_Missense_Mutation_p.D118G	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	118					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAGCTGAAGATACCGATTAC	0.463																																						uc002jfe.2		NA																	0				ovary(2)|skin(2)	4						c.(352-354)GAT>GGT		regulator of G-protein signaling 9 isoform 1							110.0	106.0	107.0					17																	63156694		1971	4135	6106	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63156694A>G	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.353A>G	17.37:g.63156694A>G	ENSP00000262406:p.Asp118Gly					RGS9_uc010dem.2_Missense_Mutation_p.D118G|RGS9_uc002jfd.2_Missense_Mutation_p.D118G|RGS9_uc002jff.2_RNA	p.D118G	NM_003835	NP_003826	O75916	RGS9_HUMAN			5	463	+			118					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.353A>G	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466717	0.26335	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.37058	1.25;1.22;1.23	5.54	5.54	0.83059	.	0.047985	0.85682	D	0.000000	T	0.60689	0.2288	M	0.74881	2.28	0.50632	D	0.999882	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.982;0.997;0.999	T	0.64989	-0.6277	10	0.72032	D	0.01	.	14.6538	0.68817	1.0:0.0:0.0:0.0	.	118;118;118	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	G	118	ENSP00000262406:D118G;ENSP00000396329:D118G;ENSP00000405814:D118G	ENSP00000262406:D118G	D	+	2	0	RGS9	60587156	1.000000	0.71417	0.995000	0.50966	0.479000	0.33129	6.986000	0.76200	2.095000	0.63458	0.460000	0.39030	GAT		0.463	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		12	60	0	0	0	0	12	60				
MC2R	4158	broad.mit.edu	37	18	13885247	13885247	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr18:13885247A>T	ENST00000327606.3	-	2	451	c.271T>A	c.(271-273)Tat>Aat	p.Y91N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	91					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGCTTGAGATAGCCCATGTTT	0.458																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(271-273)TAT>AAT		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						127.0	106.0	113.0					18																	13885247		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885247A>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.271T>A	18.37:g.13885247A>T	ENSP00000333821:p.Tyr91Asn						p.Y91N	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	448	-			91			Extracellular (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.271T>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407842	0.25378	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;D	0.84873	0.22;-1.91	4.22	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.271326	0.37393	N	0.002116	D	0.86243	0.5886	M	0.62723	1.935	0.34992	D	0.755113	P	0.45827	0.867	P	0.53313	0.723	D	0.85897	0.1432	10	0.27785	T	0.31	.	9.6848	0.40091	0.9163:0.0:0.0837:0.0	.	91	Q01718	ACTHR_HUMAN	N	91	ENSP00000333821:Y91N;ENSP00000382718:Y91N	ENSP00000333821:Y91N	Y	-	1	0	MC2R	13875247	1.000000	0.71417	0.316000	0.25252	0.251000	0.25915	5.533000	0.67160	0.605000	0.29947	0.528000	0.53228	TAT		0.458	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			20	105	0	0	0	0	20	105				
FBXO15	201456	broad.mit.edu	37	18	71797721	71797721	+	Missense_Mutation	SNP	C	C	T	rs567065722		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr18:71797721C>T	ENST00000419743.2	-	4	584	c.505G>A	c.(505-507)Gca>Aca	p.A169T	FBXO15_ENST00000269500.5_Missense_Mutation_p.A93T	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	169						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TCAGCTAGTGCGGCTTTTACA	0.418													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17969	0.0		0.0	False		,,,				2504	0.0					uc002lle.2		NA																	0				ovary(2)|pancreas(1)	3						c.(277-279)GCA>ACA		F-box protein 15 isoform 1							170.0	168.0	169.0					18																	71797721		2203	4300	6503	SO:0001583	missense	201456							g.chr18:71797721C>T	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.505G>A	18.37:g.71797721C>T	ENSP00000393154:p.Ala169Thr					FBXO15_uc002llf.2_Missense_Mutation_p.A169T	p.A93T	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	4	613	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	93					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.277G>A	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	C	5.028	0.190944	0.09547	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.45668	0.92;0.89	5.66	-2.08	0.07254	.	0.450337	0.26734	N	0.022768	T	0.23806	0.0576	L	0.60455	1.87	0.09310	N	1	P;B	0.39250	0.665;0.41	B;B	0.20955	0.03;0.032	T	0.13845	-1.0494	10	0.36615	T	0.2	-0.0659	4.5542	0.12128	0.2381:0.327:0.0:0.4349	.	169;93	B3KST3;Q8NCQ5	.;FBX15_HUMAN	T	93;169	ENSP00000269500:A93T;ENSP00000393154:A169T	ENSP00000269500:A93T	A	-	1	0	FBXO15	69948701	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	0.042000	0.13949	-0.487000	0.06735	-1.107000	0.02091	GCA		0.418	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		3	83	0	0	0	0	3	83				
ARRDC2	27106	broad.mit.edu	37	19	18121139	18121139	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:18121139G>T	ENST00000222250.4	+	6	1127	c.984G>T	c.(982-984)agG>agT	p.R328S	ARRDC2_ENST00000379656.3_Missense_Mutation_p.R323S	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	328					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGGACTGGAGGCTGGGGGCCT	0.647																																						uc002nhv.2		NA																	0				pancreas(1)	1						c.(982-984)AGG>AGT		arrestin domain containing 2 isoform 1							31.0	34.0	33.0					19																	18121139		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18121139G>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.984G>T	19.37:g.18121139G>T	ENSP00000222250:p.Arg328Ser					ARRDC2_uc002nhu.2_Missense_Mutation_p.R323S	p.R328S	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN			6	1127	+			328					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.984G>T	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916122	0.33815	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.05996	3.36;3.36	4.78	1.34	0.21922	Immunoglobulin E-set (1);	0.312500	0.31233	N	0.008006	T	0.02688	0.0081	N	0.03608	-0.345	0.23386	N	0.997787	B;B	0.13145	0.004;0.007	B;B	0.11329	0.005;0.006	T	0.41016	-0.9532	10	0.54805	T	0.06	-27.837	6.4568	0.21934	0.177:0.1555:0.6675:0.0	.	328;323	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	S	323;328	ENSP00000368977:R323S;ENSP00000222250:R328S	ENSP00000222250:R328S	R	+	3	2	ARRDC2	17982139	1.000000	0.71417	0.785000	0.31869	0.861000	0.49209	0.471000	0.22100	0.178000	0.19917	0.491000	0.48974	AGG		0.647	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		12	33	1	0	4.75e-09	5.4e-09	12	33				
GPI	2821	broad.mit.edu	37	19	34859497	34859497	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:34859497G>T	ENST00000356487.5	+	4	533	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L	GPI_ENST00000415930.3_Missense_Mutation_p.V137L|GPI_ENST00000586425.1_Missense_Mutation_p.V98L	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	98					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGGTCGAGCCGTGCTGCACGT	0.597																																						uc002nvg.1		NA																	0				ovary(1)|kidney(1)	2						c.(292-294)GTG>TTG		glucose phosphate isomerase							116.0	94.0	102.0					19																	34859497		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34859497G>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.292G>T	19.37:g.34859497G>T	ENSP00000348877:p.Val98Leu					GPI_uc002nvf.2_Missense_Mutation_p.V137L|GPI_uc010xrv.1_Missense_Mutation_p.V137L|GPI_uc010xrw.1_Missense_Mutation_p.V98L|GPI_uc010edl.1_Missense_Mutation_p.V98L|GPI_uc002nvh.1_3'UTR	p.V98L	NM_000175	NP_000166	P06744	G6PI_HUMAN			4	395	+	Esophageal squamous(110;0.162)		98					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.292G>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187469	0.78789	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.95656	-3.77;-3.77	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.76071	0.987;0.977;0.987;0.982	D	0.99239	1.0884	10	0.87932	D	0	-2.8711	19.9698	0.97280	0.0:0.0:1.0:0.0	.	98;137;81;98	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	L	137;98	ENSP00000405573:V137L;ENSP00000348877:V98L	ENSP00000348877:V98L	V	+	1	0	GPI	39551337	1.000000	0.71417	0.969000	0.41365	0.042000	0.13812	9.777000	0.99008	2.721000	0.93114	0.555000	0.69702	GTG		0.597	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			8	71	1	0	1.13e-05	1.26e-05	8	71				
FFAR3	2865	broad.mit.edu	37	19	35850648	35850648	+	Missense_Mutation	SNP	G	G	A	rs376776635		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:35850648G>A	ENST00000327809.4	+	2	1057	c.856G>A	c.(856-858)Gac>Aac	p.D286N	FFAR3_ENST00000594310.1_Missense_Mutation_p.D286N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	286					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTTCCAAGCCGACTTTCATGA	0.597																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2		NA																	0					0						c.(856-858)GAC>AAC		free fatty acid receptor 3		G	ASN/ASP	7,4393	2.1+/-5.4	0,7,2193	50.0	38.0	42.0		856	1.0	0.0	19		42	3,8545	2.2+/-6.3	0,3,4271	no	missense	FFAR3	NM_005304.3	23	0,10,6464	AA,AG,GG		0.0351,0.1591,0.0772	probably-damaging	286/347	35850648	10,12938	2200	4274	6474	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850648G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.856G>A	19.37:g.35850648G>A	ENSP00000328230:p.Asp286Asn					FFAR3_uc010xsu.1_Intron	p.D286N	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	931	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		286			Cytoplasmic (Potential).		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.856G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528431	0.44969	0.001591	3.51E-4	ENSG00000185897	ENST00000327809	T	0.37235	1.21	4.65	1.03	0.20045	.	0.980022	0.08340	U	0.961007	T	0.18718	0.0449	L	0.34521	1.04	0.09310	N	1	P	0.41313	0.745	B	0.26202	0.067	T	0.13098	-1.0522	10	0.17369	T	0.5	-17.6039	6.0892	0.19985	0.1052:0.3767:0.518:0.0	.	286	O14843	FFAR3_HUMAN	N	286	ENSP00000328230:D286N	ENSP00000328230:D286N	D	+	1	0	FFAR3	40542488	0.000000	0.05858	0.014000	0.15608	0.030000	0.12068	0.743000	0.26231	0.412000	0.25729	0.455000	0.32223	GAC		0.597	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		12	92	0	0	0	0	12	92				
ZNF567	163081	broad.mit.edu	37	19	37210997	37210997	+	Silent	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:37210997C>A	ENST00000536254.2	+	6	1593	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S	ZNF567_ENST00000392163.2_Silent_p.S426S|ZNF567_ENST00000360729.4_Silent_p.S426S|ZNF567_ENST00000588311.1_Silent_p.S426S|ZNF567_ENST00000585696.1_Silent_p.S426S|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGGAAAGTCCTTCCGCCAGA	0.428																																						uc010xtl.1		NA																	0					0						c.(1369-1371)TCC>TCA		zinc finger protein 567							76.0	80.0	79.0					19																	37210997		2203	4300	6503	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210997C>A	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1371C>A	19.37:g.37210997C>A						ZNF567_uc002oeo.1_Silent_p.S457S|ZNF567_uc010xtk.1_Silent_p.S457S|ZNF567_uc002oep.3_Silent_p.S426S|ZNF567_uc002oeq.1_Silent_p.S426S	p.S457S	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1593	+	Esophageal squamous(110;0.198)		457			C2H2-type 9.		B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.1371C>A																																																																																					0.428	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		38	73	1	0	3.39e-10	3.91e-10	38	73				
MARK4	57787	broad.mit.edu	37	19	45768123	45768123	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:45768123G>A	ENST00000262891.4	+	6	778	c.447G>A	c.(445-447)tcG>tcA	p.S149S	MARK4_ENST00000300843.4_Silent_p.S149S	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACCTCGTGTCGCATGGCCGCA	0.677																																						uc002pbb.1		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(445-447)TCG>TCA		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							127.0	120.0	122.0					19																	45768123		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45768123G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.447G>A	19.37:g.45768123G>A						MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.S149S|MARK4_uc002pbc.1_Silent_p.S15S	p.S149S			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	6	452	+		all_neural(266;0.224)|Ovarian(192;0.231)	149			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.447G>A	CCDS56097.1																																																																																				0.677	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		13	147	0	0	0	0	13	147				
APOB	338	broad.mit.edu	37	2	21228715	21228715	+	Silent	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:21228715G>T	ENST00000233242.1	-	26	11152	c.11025C>A	c.(11023-11025)atC>atA	p.I3675I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3675					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTAGGATGATATTTTTGA	0.458																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11023-11025)ATC>ATA		apolipoprotein B precursor	Atorvastatin(DB01076)						99.0	94.0	95.0					2																	21228715		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228715G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11025C>A	2.37:g.21228715G>T							p.I3675I	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11153	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3675					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11025C>A	CCDS1703.1																																																																																				0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			58	87	1	0	1.18e-23	1.41e-23	58	87				
LTBP1	4052	broad.mit.edu	37	2	33500964	33500964	+	Missense_Mutation	SNP	G	G	C	rs142262862		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:33500964G>C	ENST00000404816.2	+	18	3319	c.2966G>C	c.(2965-2967)cGc>cCc	p.R989P	LTBP1_ENST00000404525.1_Missense_Mutation_p.R610P|LTBP1_ENST00000354476.3_Missense_Mutation_p.R990P|LTBP1_ENST00000402934.1_Missense_Mutation_p.R610P|LTBP1_ENST00000418533.2_Missense_Mutation_p.R663P|LTBP1_ENST00000390003.4_Missense_Mutation_p.R664P|LTBP1_ENST00000407925.1_Missense_Mutation_p.R663P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	989	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCGGGTACCGCATGACTCAG	0.572																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2968-2970)CGC>CCC		latent transforming growth factor beta binding							119.0	107.0	111.0					2																	33500964		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33500964G>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2966G>C	2.37:g.33500964G>C	ENSP00000386043:p.Arg989Pro					LTBP1_uc002rot.2_Missense_Mutation_p.R664P|LTBP1_uc002rou.2_Missense_Mutation_p.R663P|LTBP1_uc002rov.2_Missense_Mutation_p.R610P|LTBP1_uc010ymz.1_Missense_Mutation_p.R663P|LTBP1_uc010yna.1_Missense_Mutation_p.R610P	p.R990P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			18	2969	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	989			EGF-like 6; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2969G>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673337	0.47781	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.92348	-2.27;-2.27;-2.27;-2.27;-3.02;-2.27;-2.27	4.73	2.8	0.32819	EGF-like calcium-binding (2);	.	.	.	.	D	0.91540	0.7328	L	0.58969	1.84	0.80722	D	1	P;P;B;P;P;P	0.44309	0.632;0.832;0.279;0.578;0.828;0.578	P;P;B;P;P;P	0.51806	0.596;0.481;0.294;0.46;0.68;0.46	D	0.88836	0.3309	9	0.40728	T	0.16	.	7.1534	0.25624	0.1695:0.0:0.6905:0.1399	.	989;663;610;663;664;990	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	P	989;990;664;663;610;610;663	ENSP00000386043:R989P;ENSP00000346467:R990P;ENSP00000374653:R664P;ENSP00000393057:R663P;ENSP00000384373:R610P;ENSP00000385359:R610P;ENSP00000384091:R663P	ENSP00000346467:R990P	R	+	2	0	LTBP1	33354468	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.344000	0.52174	1.134000	0.42165	0.655000	0.94253	CGC		0.572	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		27	121	0	0	0	0	27	121				
SLC8A1	6546	broad.mit.edu	37	2	40657152	40657152	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:40657152A>C	ENST00000403092.1	-	2	302	c.269T>G	c.(268-270)cTt>cGt	p.L90R	SLC8A1_ENST00000405901.3_Missense_Mutation_p.L90R|SLC8A1_ENST00000406785.2_Missense_Mutation_p.L90R|SLC8A1_ENST00000332839.4_Missense_Mutation_p.L90R|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L90R|SLC8A1_ENST00000542756.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000402441.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L90R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	90					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGAGACTCCAAGAAACATGTA	0.423																																						uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(268-270)CTT>CGT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						99.0	101.0	100.0					2																	40657152		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657152A>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.269T>G	2.37:g.40657152A>C	ENSP00000384763:p.Leu90Arg					SLC8A1_uc002rry.2_Missense_Mutation_p.L90R|SLC8A1_uc002rrz.2_Missense_Mutation_p.L90R|SLC8A1_uc002rsa.2_Missense_Mutation_p.L90R|SLC8A1_uc002rsd.3_Missense_Mutation_p.L90R|SLC8A1_uc002rsb.1_Missense_Mutation_p.L90R|SLC8A1_uc010fan.1_Missense_Mutation_p.L90R|SLC8A1_uc002rsc.1_Missense_Mutation_p.L90R	p.L90R	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	293	-			90			Helical; (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.269T>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.381520	0.61845	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	M	0.90198	3.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.998;0.999	D	0.87653	0.2529	10	0.87932	D	0	.	13.7388	0.62836	1.0:0.0:0.0:0.0	.	90;90;90;90;90	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	R	90	ENSP00000383886:L90R;ENSP00000440727:L90R;ENSP00000384763:L90R;ENSP00000385678:L90R;ENSP00000385188:L90R;ENSP00000385535:L90R;ENSP00000332931:L90R;ENSP00000384908:L90R;ENSP00000385811:L90R;ENSP00000443515:L90R	ENSP00000332931:L90R	L	-	2	0	SLC8A1	40510656	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	9.151000	0.94674	2.140000	0.66376	0.460000	0.39030	CTT		0.423	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		88	115	0	0	0	0	88	115				
UBXN4	23190	broad.mit.edu	37	2	136499550	136499550	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:136499550G>A	ENST00000272638.9	+	1	362	c.51G>A	c.(49-51)agG>agA	p.R17R		NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	17					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CGGCCAAAAGGAGCGGCGCGG	0.672																																						uc002tur.2		NA																	0				skin(2)	2						c.(49-51)AGG>AGA		UBX domain containing 2							25.0	35.0	32.0					2																	136499550		1963	4128	6091	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136499550G>A	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.51G>A	2.37:g.136499550G>A							p.R17R	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			1	362	+			17			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.51G>A	CCDS42761.1																																																																																				0.672	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		6	22	0	0	0	0	6	22				
GPD2	2820	broad.mit.edu	37	2	157426617	157426617	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:157426617G>C	ENST00000310454.6	+	12	1867	c.1495G>C	c.(1495-1497)Gcc>Ccc	p.A499P	GPD2_ENST00000409125.4_Missense_Mutation_p.A272P|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409674.1_Missense_Mutation_p.A499P|GPD2_ENST00000438166.2_Missense_Mutation_p.A499P	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	499					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GCATCTTGCCGCCACCTATGG	0.458																																						uc002tzf.3		NA																	0				ovary(1)	1						c.(1495-1497)GCC>CCC		glycerol-3-phosphate dehydrogenase 2,							111.0	98.0	102.0					2																	157426617		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157426617G>C		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1495G>C	2.37:g.157426617G>C	ENSP00000308610:p.Ala499Pro					GPD2_uc010zch.1_Missense_Mutation_p.A272P|GPD2_uc002tzd.3_Missense_Mutation_p.A499P|GPD2_uc002tze.1_RNA	p.A499P	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			12	1855	+			499					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1495G>C	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958795	0.34565	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.32	-4.57	0.03421	.	0.632265	0.17784	N	0.162140	T	0.29288	0.0729	L	0.46741	1.465	0.22888	N	0.998602	B	0.09022	0.002	B	0.28139	0.086	T	0.26087	-1.0113	10	0.40728	T	0.16	.	5.5284	0.16970	0.4022:0.0:0.2405:0.3573	.	499	P43304	GPDM_HUMAN	P	499;272;499;499	ENSP00000308610:A499P;ENSP00000386484:A272P;ENSP00000409708:A499P;ENSP00000386425:A499P	ENSP00000308610:A499P	A	+	1	0	GPD2	157134863	0.002000	0.14202	0.056000	0.19401	0.971000	0.66376	0.014000	0.13333	-0.465000	0.06953	-0.262000	0.10625	GCC		0.458	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			22	119	0	0	0	0	22	119				
DPP4	1803	broad.mit.edu	37	2	162849867	162849867	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:162849867C>T	ENST00000360534.3	-	26	2787	c.2227G>A	c.(2227-2229)Gct>Act	p.A743T	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	743					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GTGCTGCTAGCTATTCCATGG	0.343																																						uc002ubz.2		NA																	0				ovary(3)	3						c.(2227-2229)GCT>ACT		dipeptidylpeptidase IV	Sitagliptin(DB01261)						296.0	271.0	280.0					2																	162849867		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162849867C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2227G>A	2.37:g.162849867C>T	ENSP00000353731:p.Ala743Thr					DPP4_uc010fpb.2_Missense_Mutation_p.A419T	p.A743T	NM_001935	NP_001926	P27487	DPP4_HUMAN			26	2788	-			743			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.2227G>A	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	7.895	0.733137	0.15507	.	.	ENSG00000197635	ENST00000360534	T	0.31247	1.5	6.08	6.08	0.98989	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.452846	0.18524	N	0.138688	T	0.16471	0.0396	N	0.11673	0.155	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.18587	-1.0332	10	0.15952	T	0.53	-13.8948	11.2147	0.48819	0.1294:0.8037:0.0:0.0669	.	743	P27487	DPP4_HUMAN	T	743	ENSP00000353731:A743T	ENSP00000353731:A743T	A	-	1	0	DPP4	162558113	0.004000	0.15560	0.038000	0.18304	0.777000	0.43975	1.937000	0.40193	2.894000	0.99253	0.655000	0.94253	GCT		0.343	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			47	193	0	0	0	0	47	193				
ZDBF2	57683	broad.mit.edu	37	2	207170711	207170711	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:207170711T>G	ENST00000374423.3	+	5	1845	c.1459T>G	c.(1459-1461)Tat>Gat	p.Y487D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	487							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACCAAAGCTATGAATCTAG	0.383																																						uc002vbp.2		NA																	0				ovary(3)	3						c.(1459-1461)TAT>GAT		zinc finger, DBF-type containing 2							84.0	78.0	80.0					2																	207170711		1877	4118	5995	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170711T>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1459T>G	2.37:g.207170711T>G	ENSP00000363545:p.Tyr487Asp						p.Y487D	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	1709	+			487					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1459T>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.402727	0.62288	.	.	ENSG00000204186	ENST00000374423	T	0.40756	1.02	4.87	4.87	0.63330	.	0.000000	0.34853	N	0.003621	T	0.60222	0.2252	M	0.67397	2.05	0.32911	D	0.51451	D	0.89917	1.0	D	0.76575	0.988	T	0.71520	-0.4568	10	0.66056	D	0.02	.	11.42	0.49976	0.0:0.0:0.0:1.0	.	487	Q9HCK1	ZDBF2_HUMAN	D	487	ENSP00000363545:Y487D	ENSP00000363545:Y487D	Y	+	1	0	ZDBF2	206878956	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.374000	0.52402	2.121000	0.65114	0.477000	0.44152	TAT		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	72	0	0	0	0	4	72				
RBM44	375316	broad.mit.edu	37	2	238726675	238726675	+	Silent	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:238726675C>G	ENST00000409864.1	+	3	1370	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	RBM44_ENST00000316997.4_Silent_p.L372L|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	371						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGACATTACTCCAACCCTGTA	0.353																																						uc002vxi.3		NA																	0				ovary(4)	4						c.(1114-1116)CTC>CTG		RNA binding motif protein 44							64.0	65.0	65.0					2																	238726675		1850	4096	5946	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238726675C>G	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1116C>G	2.37:g.238726675C>G							p.L372L	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1248	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	371					A0AUW3	Silent	SNP	ENST00000409864.1	37	c.1116C>G	CCDS46554.1																																																																																				0.353	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		34	110	0	0	0	0	34	110				
ZNF337	26152	broad.mit.edu	37	20	25656794	25656794	+	Missense_Mutation	SNP	G	G	A	rs575478110		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:25656794G>A	ENST00000376436.1	-	4	1669	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	ZNF337_ENST00000252979.5_Missense_Mutation_p.A377V|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.A345V|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCCTGCACGCAAAGGGCTT	0.512																																						uc002wva.2		NA																	0					0						c.(1129-1131)GCG>GTG		zinc finger protein 337							104.0	93.0	97.0					20																	25656794		2203	4300	6503	SO:0001583	missense	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25656794G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1130C>T	20.37:g.25656794G>A	ENSP00000365619:p.Ala377Val					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.A345V|ZNF337_uc002wvb.2_Missense_Mutation_p.A377V|ZNF337_uc002wvc.2_Missense_Mutation_p.A377V	p.A377V	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	1652	-			377			C2H2-type 8.		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1130C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	16.43	3.121183	0.56613	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.17213	2.29;2.29;2.29	1.3	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.04373	-0.215	0.09310	N	1	B;P	0.35242	0.25;0.492	B;B	0.12156	0.007;0.007	T	0.29088	-1.0023	9	0.34782	T	0.22	.	3.2158	0.06699	0.3352:0.0:0.4601:0.2047	.	345;377	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	V	377;377;377;345	ENSP00000365619:A377V;ENSP00000252979:A377V;ENSP00000442181:A345V	ENSP00000252979:A377V	A	-	2	0	ZNF337	25604794	0.000000	0.05858	0.000000	0.03702	0.871000	0.50021	-1.809000	0.01731	-1.214000	0.02614	0.306000	0.20318	GCG		0.512	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			25	130	0	0	0	0	25	130				
CBFA2T2	9139	broad.mit.edu	37	20	32212735	32212735	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:32212735C>T	ENST00000346541.3	+	7	1422	c.885C>T	c.(883-885)acC>acT	p.T295T	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Silent_p.T305T|CBFA2T2_ENST00000397800.1_Silent_p.T266T|CBFA2T2_ENST00000492345.1_Silent_p.T266T|CBFA2T2_ENST00000342704.6_Silent_p.T286T|CBFA2T2_ENST00000375279.2_Silent_p.T295T	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	295					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGCATTACACCTTAGAGGATA	0.532																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NA																	0				pancreas(1)|skin(1)	2						c.(883-885)ACC>ACT		core-binding factor, runt domain, alpha subunit							117.0	97.0	104.0					20																	32212735		2203	4300	6503	SO:0001819	synonymous_variant	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32212735C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.885C>T	20.37:g.32212735C>T						CBFA2T2_uc010zug.1_Silent_p.T69T|CBFA2T2_uc002wze.1_Silent_p.T286T|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.T266T|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	p.T295T	NM_005093	NP_005084	O43439	MTG8R_HUMAN			7	1422	+			295					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP	ENST00000346541.3	37	c.885C>T	CCDS13221.1																																																																																				0.532	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		45	80	0	0	0	0	45	80				
RBL1	5933	broad.mit.edu	37	20	35717398	35717398	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:35717398T>G	ENST00000373664.3	-	2	350	c.284A>C	c.(283-285)aAa>aCa	p.K95T	RBL1_ENST00000344359.3_Missense_Mutation_p.K95T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	95					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTACCTTAATTTAGCTGAACG	0.328																																						uc002xgi.2		NA																	0				lung(5)|skin(3)|ovary(2)	10						c.(283-285)AAA>ACA		retinoblastoma-like protein 1 isoform a							84.0	82.0	83.0					20																	35717398		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35717398T>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.284A>C	20.37:g.35717398T>G	ENSP00000362768:p.Lys95Thr					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.K95T|RBL1_uc010gfv.1_RNA	p.K95T	NM_002895	NP_002886	P28749	RBL1_HUMAN			2	363	-		Myeloproliferative disorder(115;0.00878)	95					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.284A>C	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872179	0.72180	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.76060	-0.99;-0.99	4.98	4.98	0.66077	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.094420	0.64402	D	0.000001	T	0.81143	0.4761	M	0.65498	2.005	0.52099	D	0.999943	D;P	0.63046	0.992;0.866	P;P	0.61397	0.888;0.735	T	0.81154	-0.1062	10	0.45353	T	0.12	-10.4256	10.0699	0.42325	0.0:0.0807:0.0:0.9193	.	95;95	P28749-2;P28749	.;RBL1_HUMAN	T	95	ENSP00000362768:K95T;ENSP00000343646:K95T	ENSP00000343646:K95T	K	-	2	0	RBL1	35150812	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.248000	0.58760	2.102000	0.63906	0.533000	0.62120	AAA		0.328	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		65	106	0	0	0	0	65	106				
RALGAPB	57148	broad.mit.edu	37	20	37144953	37144953	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:37144953C>T	ENST00000262879.6	+	7	1275	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	RALGAPB_ENST00000397038.1_Silent_p.L109L|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Silent_p.L331L|RALGAPB_ENST00000397042.3_Silent_p.L331L|RALGAPB_ENST00000537204.1_Silent_p.L331L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	331					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTTAAACATCTGCCTCAAAT	0.413																																						uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(991-993)CTG>TTG		Ral GTPase activating protein, beta subunit							206.0	190.0	196.0					20																	37144953		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37144953C>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.991C>T	20.37:g.37144953C>T						RALGAPB_uc010zvz.1_Silent_p.L331L|RALGAPB_uc002xix.2_Silent_p.L331L|RALGAPB_uc002xiy.1_Silent_p.L331L|RALGAPB_uc002xiz.2_Silent_p.L109L|RALGAPB_uc002xja.1_Silent_p.L58L	p.L331L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			7	1248	+			331					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.991C>T	CCDS13305.1																																																																																				0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		54	419	0	0	0	0	54	419				
TP53RK	112858	broad.mit.edu	37	20	45315819	45315819	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:45315819T>C	ENST00000372102.3	-	2	365	c.340A>G	c.(340-342)Ata>Gta	p.I114V	RP1-28H20.3_ENST00000606362.1_lincRNA			Q96S44	PRPK_HUMAN	TP53 regulating kinase	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				lipopolysaccharide biosynthetic process (GO:0009103)|protein phosphorylation (GO:0006468)|tRNA processing (GO:0008033)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TTCTTCCATATATAAGCAGTT	0.403																																						uc002xsk.2		NA																	0					0						c.(334-336)TAT>TGT		p53-related protein kinase							152.0	175.0	167.0					20																	45315819		2200	4300	6500	SO:0001583	missense	112858				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr20:45315819T>C		CCDS13401.1	20q13.2	2014-05-14	2004-05-10	2004-05-12	ENSG00000172315	ENSG00000172315			16197	protein-coding gene	gene with protein product		608679	"""chromosome 20 open reading frame 64"""	C20orf64		11546806, 12914926	Standard	NM_033550		Approved	dJ101A2.2, prpk, Nori-2p, BUD32	uc002xsk.3	Q96S44	OTTHUMG00000085887	ENST00000372102.3:c.340A>G	20.37:g.45315819T>C	ENSP00000361174:p.Ile114Val					SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_Missense_Mutation_p.I114V	p.Y112C	NM_033550	NP_291028	Q96S44	PRPK_HUMAN			2	558	-		Myeloproliferative disorder(115;0.0122)	112			Protein kinase.		B3KU44|Q3T977|Q5JZ01|Q6NZ60|Q96FM7|Q9NQE6	Missense_Mutation	SNP	ENST00000372102.3	37	c.335A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.325|5.325	0.245293|0.245293	0.10077|0.10077	.|.	.|.	ENSG00000172315|ENSG00000172315	ENST00000372102|ENST00000372114	T|T	0.51574|0.21543	0.7|2.0	5.38|5.38	0.343|0.343	0.16001|0.16001	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.225562	.|0.47093	.|D	.|0.000242	T|T	0.45836|0.45836	0.1362|0.1362	M|M	0.90870|0.90870	3.155|3.155	0.21147|0.21147	N|N	0.999775|0.999775	B|D	0.19706|0.71674	0.038|0.998	B|D	0.15870|0.65684	0.014|0.937	T|T	0.34453|0.34453	-0.9828|-0.9828	9|10	0.72032|0.72032	D|D	0.01|0.01	-4.7889|-4.7889	7.3941|7.3941	0.26926|0.26926	0.3748:0.0:0.1188:0.5063|0.3748:0.0:0.1188:0.5063	.|.	114|112	Q5JZ02|Q96S44	.|PRPK_HUMAN	V|C	114|112	ENSP00000361174:I114V|ENSP00000361186:Y112C	ENSP00000361174:I114V|ENSP00000361186:Y112C	I|Y	-|-	1|2	0|0	TP53RK|TP53RK	44749226|44749226	1.000000|1.000000	0.71417|0.71417	0.530000|0.530000	0.27963|0.27963	0.178000|0.178000	0.23041|0.23041	2.073000|2.073000	0.41519|0.41519	-0.128000|-0.128000	0.11641|0.11641	-0.313000|-0.313000	0.08912|0.08912	ATA|TAT		0.403	TP53RK-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000193688.1	NM_033550		108	477	0	0	0	0	108	477				
RUNX1	861	broad.mit.edu	37	21	36206846	36206846	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr21:36206846G>A	ENST00000344691.4	-	4	2162	c.585C>T	c.(583-585)tcC>tcT	p.S195S	RUNX1_ENST00000437180.1_Silent_p.S222S|RUNX1_ENST00000325074.5_Silent_p.S210S|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000300305.3_Silent_p.S222S|RUNX1_ENST00000358356.5_Silent_p.S195S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	195	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S218fs*4(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGAGCCGCTCGGAAAAGGACA	0.642			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	uc002yuh.2		NA		Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		1	Deletion - Frameshift(1)	p.I195fs*19(1)	breast(1)	haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						c.(583-585)TCC>TCT		runt-related transcription factor 1 isoform							76.0	82.0	80.0					21																	36206846		2203	4300	6503	SO:0001819	synonymous_variant	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36206846G>A	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.585C>T	21.37:g.36206846G>A						RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Silent_p.S222S|RUNX1_uc010gmv.2_Silent_p.S222S|RUNX1_uc002yuj.3_Silent_p.S90S|RUNX1_uc002yuk.3_Silent_p.S222S|RUNX1_uc002yul.1_5'UTR|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Silent_p.S222S|RUNX1_uc002yuo.1_Silent_p.S195S	p.S195S	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN			4	2163	-			195	Missing: No DNA-binding.		Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	c.585C>T	CCDS42922.1																																																																																				0.642	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			25	126	0	0	0	0	25	126				
TNRC6B	23112	broad.mit.edu	37	22	40719213	40719213	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr22:40719213G>A	ENST00000454349.2	+	23	5681	c.5470G>A	c.(5470-5472)Gac>Aac	p.D1824N	TNRC6B_ENST00000402203.1_Missense_Mutation_p.D1020N|TNRC6B_ENST00000301923.9_Missense_Mutation_p.D1020N|TNRC6B_ENST00000335727.9_Missense_Mutation_p.D1714N	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1824					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ACTACCTGGTGACCTTCTGGG	0.502																																						uc011aor.1		NA																	0					0						c.(5470-5472)GAC>AAC		trinucleotide repeat containing 6B isoform 1							56.0	56.0	56.0					22																	40719213		1894	4120	6014	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40719213G>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5470G>A	22.37:g.40719213G>A	ENSP00000401946:p.Asp1824Asn					TNRC6B_uc003aym.2_Missense_Mutation_p.D1020N|TNRC6B_uc003ayn.3_Missense_Mutation_p.D1714N	p.D1824N	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			23	5681	+			1824					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.5470G>A	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245942	0.59103	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.52983	0.64;0.64;1.85;1.88	5.85	5.85	0.93711	.	0.046947	0.85682	D	0.000000	T	0.50616	0.1626	L	0.49513	1.565	0.58432	D	0.999997	P;P;P	0.46142	0.799;0.873;0.748	B;B;B	0.43194	0.233;0.411;0.147	T	0.54016	-0.8356	10	0.72032	D	0.01	-12.3906	20.1531	0.98091	0.0:0.0:1.0:0.0	.	1824;1714;1020	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	N	1020;1020;1824;1714;1714	ENSP00000306759:D1020N;ENSP00000384795:D1020N;ENSP00000401946:D1824N;ENSP00000338371:D1714N	ENSP00000306759:D1020N	D	+	1	0	TNRC6B	39049159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.006000	0.88564	2.752000	0.94435	0.650000	0.86243	GAC		0.502	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				27	58	0	0	0	0	27	58				
SLC4A7	9497	broad.mit.edu	37	3	27490193	27490193	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:27490193T>A	ENST00000295736.5	-	3	281	c.211A>T	c.(211-213)Aga>Tga	p.R71*	SLC4A7_ENST00000388777.4_De_novo_Start_OutOfFrame|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000425128.2_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.R71*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.R80*	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	71					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TTATCTTTTCTTCTCCGGTGG	0.408																																						uc003cdv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(211-213)AGA>TGA		solute carrier family 4, sodium bicarbonate							235.0	212.0	220.0					3																	27490193		2203	4300	6503	SO:0001587	stop_gained	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27490193T>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.211A>T	3.37:g.27490193T>A	ENSP00000295736:p.Arg71*					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Nonsense_Mutation_p.R76*|SLC4A7_uc011aww.1_Nonsense_Mutation_p.R80*|SLC4A7_uc011awx.1_Nonsense_Mutation_p.R80*|SLC4A7_uc011awy.1_Nonsense_Mutation_p.R76*|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Nonsense_Mutation_p.R76*|SLC4A7_uc011axb.1_Nonsense_Mutation_p.R80*|SLC4A7_uc010hfm.2_Nonsense_Mutation_p.R76*|SLC4A7_uc003cdw.2_Nonsense_Mutation_p.R71*	p.R71*	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			3	282	-			71			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Nonsense_Mutation	SNP	ENST00000295736.5	37	c.211A>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	39	7.708589	0.98447	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	.	.	.	5.56	5.56	0.83823	.	0.155460	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	15.3698	0.74554	0.0:0.0:0.0:1.0	.	.	.	.	X	71;71;80;80;76;76;76;80;80;76;71	.	ENSP00000295736:R71X	R	-	1	2	SLC4A7	27465197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.791000	0.55469	2.106000	0.64143	0.528000	0.53228	AGA		0.408	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		78	71	0	0	0	0	78	71				
ABHD5	51099	broad.mit.edu	37	3	43756504	43756504	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:43756504G>A	ENST00000458276.2	+	5	850	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	243					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GTTCGAAGACGATACTGTGAC	0.383																																						uc003cmx.2		NA																	0				ovary(1)	1						c.(727-729)GAT>AAT		abhydrolase domain containing 5							143.0	131.0	135.0					3																	43756504		2203	4300	6503	SO:0001583	missense	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43756504G>A	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.727G>A	3.37:g.43756504G>A	ENSP00000390849:p.Asp243Asn						p.D243N	NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	5	837	+		Renal(3;0.0134)	243					B2R9K0|Q9Y369	Missense_Mutation	SNP	ENST00000458276.2	37	c.727G>A	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159744	0.38119	.	.	ENSG00000011198	ENST00000458276;ENST00000413300	D;D	0.84873	-1.91;-1.91	6.06	6.06	0.98353	.	0.191843	0.53938	D	0.000045	T	0.70587	0.3241	N	0.04245	-0.25	0.48696	D	0.999692	B	0.10296	0.003	B	0.09377	0.004	T	0.65664	-0.6113	10	0.35671	T	0.21	-7.9468	14.1929	0.65649	0.0763:0.0:0.9237:0.0	.	243	Q8WTS1	ABHD5_HUMAN	N	243;75	ENSP00000390849:D243N;ENSP00000392159:D75N	ENSP00000392159:D75N	D	+	1	0	ABHD5	43731508	1.000000	0.71417	0.990000	0.47175	0.949000	0.60115	5.766000	0.68843	2.871000	0.98454	0.655000	0.94253	GAT		0.383	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		31	101	0	0	0	0	31	101				
ZKSCAN7	55888	broad.mit.edu	37	3	44612216	44612216	+	Silent	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:44612216C>G	ENST00000273320.3	+	6	2043	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	ZKSCAN7_ENST00000426540.1_Silent_p.L538L|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	538					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)										ATAGAAATCTCATTGACCATC	0.448																																						uc010hin.2		NA																	0				ovary(2)	2						c.(1612-1614)CTC>CTG		zinc finger protein 167 isoform 1							118.0	121.0	120.0					3																	44612216		2203	4300	6503	SO:0001819	synonymous_variant	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44612216C>G	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1614C>G	3.37:g.44612216C>G						ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Silent_p.L538L|ZNF167_uc003cnk.2_Intron	p.L538L	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	2002	+			538			C2H2-type 6.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	c.1614C>G	CCDS2715.1																																																																																				0.448	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		39	135	0	0	0	0	39	135				
HESX1	8820	broad.mit.edu	37	3	57232884	57232884	+	Missense_Mutation	SNP	G	G	A	rs149663188		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:57232884G>A	ENST00000295934.3	-	2	290	c.254C>T	c.(253-255)tCg>tTg	p.S85L	HESX1_ENST00000473921.1_Missense_Mutation_p.S85L	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	85					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.S85L(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTCATATTTCGAAGCTCTTTC	0.418																																					Esophageal Squamous(84;267 1272 9034 48993 52677)	uc003din.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(253-255)TCG>TTG		HESX homeobox 1		A	LEU/SER	0,4406		0,0,2203	209.0	234.0	226.0		254	-3.7	0.0	3	dbSNP_134	226	1,8599	1.2+/-3.3	0,1,4299	no	missense	HESX1	NM_003865.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	85/186	57232884	1,13005	2203	4300	6503	SO:0001583	missense	8820					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:57232884G>A	AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.254C>T	3.37:g.57232884G>A	ENSP00000295934:p.Ser85Leu						p.S85L	NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)	2	588	-			85					Q52LC5|Q99667	Missense_Mutation	SNP	ENST00000295934.3	37	c.254C>T	CCDS2881.1	.	.	.	.	.	.	.	.	.	.	g	5.828	0.336984	0.11013	0.0	1.16E-4	ENSG00000163666	ENST00000295934;ENST00000473921;ENST00000495160	D;D;T	0.93547	-3.24;-3.02;-1.44	5.74	-3.71	0.04424	.	1.034790	0.07635	N	0.929317	T	0.74680	0.3748	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65965	-0.6040	10	0.22706	T	0.39	2.5002	7.8608	0.29509	0.5948:0.1043:0.3008:0.0	.	85	Q9UBX0	HESX1_HUMAN	L	85	ENSP00000295934:S85L;ENSP00000418918:S85L;ENSP00000419615:S85L	ENSP00000295934:S85L	S	-	2	0	HESX1	57207924	0.007000	0.16637	0.000000	0.03702	0.723000	0.41478	0.662000	0.25038	-0.964000	0.03595	-1.309000	0.01313	TCG		0.418	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2			128	367	0	0	0	0	128	367				
IFT57	55081	broad.mit.edu	37	3	107941068	107941068	+	Silent	SNP	G	G	T	rs150114125		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:107941068G>T	ENST00000264538.3	-	1	349	c.102C>A	c.(100-102)ccC>ccA	p.P34P		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	34					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AGGCCGCGCCGGGCCCCCGCT	0.637																																						uc003dwx.3		NA																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(100-102)CCC>CCA		estrogen-related receptor beta like 1							38.0	40.0	39.0					3																	107941068		2203	4300	6503	SO:0001819	synonymous_variant	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107941068G>T	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.102C>A	3.37:g.107941068G>T							p.P34P	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		1	350	-			34					Q96DA9	Silent	SNP	ENST00000264538.3	37	c.102C>A	CCDS2951.1																																																																																				0.637	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		21	43	1	0	3.84e-06	4.32e-06	21	43				
NR1I2	8856	broad.mit.edu	37	3	119533912	119533912	+	Missense_Mutation	SNP	C	C	T	rs201179068		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:119533912C>T	ENST00000337940.4	+	6	1046	c.998C>T	c.(997-999)gCg>gTg	p.A333V	NR1I2_ENST00000466380.1_Missense_Mutation_p.A257V|NR1I2_ENST00000393716.2_Missense_Mutation_p.A294V	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	294	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GTGTTCAATGCGGAGACTGGA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21357	0.0		0.0	False		,,,				2504	0.0					uc003edj.2		NA																	0				ovary(2)	2						c.(880-882)GCG>GTG		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						68.0	58.0	61.0					3																	119533912		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119533912C>T	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.998C>T	3.37:g.119533912C>T	ENSP00000336528:p.Ala333Val					NR1I2_uc003edi.2_Missense_Mutation_p.A257V|NR1I2_uc003edk.2_Missense_Mutation_p.A333V|NR1I2_uc003edl.2_Missense_Mutation_p.A182V	p.A294V	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	6	2720	+			294			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.881C>T	CCDS2995.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.129	-1.116438	0.01799	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.96716	-4.1;-4.1;-4.1	4.31	3.43	0.39272	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.552403	0.19809	N	0.105580	D	0.88797	0.6534	N	0.25201	0.72	0.09310	N	1	P;P;B	0.39883	0.561;0.693;0.141	B;B;B	0.26094	0.052;0.066;0.008	T	0.80379	-0.1407	10	0.16896	T	0.51	.	10.1315	0.42682	0.0:0.9004:0.0:0.0996	.	294;333;280	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	V	294;257;333	ENSP00000377319:A294V;ENSP00000420297:A257V;ENSP00000336528:A333V	ENSP00000336528:A333V	A	+	2	0	NR1I2	121016602	0.000000	0.05858	0.900000	0.35374	0.318000	0.28184	-0.121000	0.10643	1.157000	0.42530	0.655000	0.94253	GCG		0.597	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			16	94	0	0	0	0	16	94				
EEFSEC	60678	broad.mit.edu	37	3	128060189	128060189	+	Silent	SNP	C	C	T	rs114698998	byFrequency	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:128060189C>T	ENST00000254730.6	+	5	954	c.900C>T	c.(898-900)cgC>cgT	p.R300R	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Silent_p.R245R	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	300					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGCTGGAGCGCGGGTTGGTGT	0.592													C|||	4	0.000798722	0.003	0.0	5008	,	,		18325	0.0		0.0	False		,,,				2504	0.0					uc003eki.2		NA																	0				ovary(1)	1						c.(898-900)CGC>CGT		eukaryotic elongation factor,		C		5,4401	9.9+/-24.2	0,5,2198	86.0	78.0	81.0		900	-10.7	0.7	3	dbSNP_132	81	0,8600		0,0,4300	no	coding-synonymous	EEFSEC	NM_021937.3		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		300/597	128060189	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060189C>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.900C>T	3.37:g.128060189C>T						EEFSEC_uc003ekj.2_Silent_p.R245R	p.R300R	NM_021937	NP_068756	P57772	SELB_HUMAN			5	938	+			300					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.900C>T	CCDS33849.1																																																																																				0.592	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		42	99	0	0	0	0	42	99				
COL6A6	131873	broad.mit.edu	37	3	130292957	130292957	+	Silent	SNP	C	C	T	rs539153024	byFrequency	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:130292957C>T	ENST00000358511.6	+	7	3166	c.3135C>T	c.(3133-3135)agC>agT	p.S1045S	COL6A6_ENST00000453409.2_Silent_p.S1045S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1045	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCAGTTTAGCGATACCTATC	0.418													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19829	0.0		0.0	False		,,,				2504	0.0					uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3133-3135)AGC>AGT		collagen type VI alpha 6 precursor							61.0	58.0	59.0					3																	130292957		1868	4106	5974	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130292957C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3135C>T	3.37:g.130292957C>T							p.S1045S	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3166	+			1045			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.3135C>T	CCDS46911.1																																																																																				0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		24	55	0	0	0	0	24	55				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CTT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047L	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	75	0	0	0	0	40	75				
KLHL6	89857	broad.mit.edu	37	3	183210339	183210339	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:183210339G>A	ENST00000341319.3	-	6	1542	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	503					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCCTCCACGGGCATGGCCGCC	0.517																																						uc003flr.2		NA																	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1507-1509)CCC>TCC		kelch-like 6							190.0	153.0	165.0					3																	183210339		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183210339G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1507C>T	3.37:g.183210339G>A	ENSP00000341342:p.Pro503Ser					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	p.P503S	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		6	1565	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		503			Kelch 4.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1507C>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405371	0.83230	.	.	ENSG00000172578	ENST00000341319	T	0.79352	-1.26	4.88	4.88	0.63580	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78565	-0.2155	10	0.07644	T	0.81	.	18.3923	0.90487	0.0:0.0:1.0:0.0	.	503	Q8WZ60	KLHL6_HUMAN	S	503	ENSP00000341342:P503S	ENSP00000341342:P503S	P	-	1	0	KLHL6	184693033	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	9.813000	0.99286	2.420000	0.82092	0.591000	0.81541	CCC		0.517	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		4	146	0	0	0	0	4	146				
CRYGS	1427	broad.mit.edu	37	3	186257359	186257359	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:186257359G>C	ENST00000392499.2	-	3	388	c.49C>G	c.(49-51)Caa>Gaa	p.Q17E	CRYGS_ENST00000307944.5_Missense_Mutation_p.Q17E	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	17	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CGACGGCCTTGAAAATTTTTG	0.433																																						uc003fqe.2		NA																	0					0						c.(49-51)CAA>GAA		crystallin, gamma S							59.0	62.0	61.0					3																	186257359		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186257359G>C		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.49C>G	3.37:g.186257359G>C	ENSP00000376287:p.Gln17Glu					CRYGS_uc003fqf.2_Missense_Mutation_p.Q17E	p.Q17E	NM_017541	NP_060011	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	2	101	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		17			Beta/gamma crystallin 'Greek key' 1.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.49C>G	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727813	0.89390	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.76316	-1.01;-1.01	6.17	6.17	0.99709	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.086699	0.47093	U	0.000254	T	0.80711	0.4675	M	0.73372	2.23	0.45464	D	0.998439	B	0.34241	0.444	B	0.37692	0.256	T	0.80692	-0.1269	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	17	P22914	CRBS_HUMAN	E	17	ENSP00000376287:Q17E;ENSP00000312099:Q17E	ENSP00000312099:Q17E	Q	-	1	0	CRYGS	187740053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.941000	0.99782	0.655000	0.94253	CAA		0.433	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		23	99	0	0	0	0	23	99				
CRMP1	1400	broad.mit.edu	37	4	5862807	5862807	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:5862807C>G	ENST00000397890.2	-	3	473	c.259G>C	c.(259-261)Gat>Cat	p.D87H	CRMP1_ENST00000324989.7_Missense_Mutation_p.D201H|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.D85H	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	87					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AAGAAGTCATCAGCCGCAGTC	0.572																																						uc003gip.2		NA																	0				ovary(2)	2						c.(259-261)GAT>CAT		collapsin response mediator protein 1 isoform 2							103.0	98.0	99.0					4																	5862807		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5862807C>G	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.259G>C	4.37:g.5862807C>G	ENSP00000380987:p.Asp87His					CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Missense_Mutation_p.D87H|CRMP1_uc003gir.2_Missense_Mutation_p.D82H|CRMP1_uc003gis.2_Missense_Mutation_p.D201H	p.D87H	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	4	360	-			87					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.259G>C	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759352	0.69763	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.91464	-2.85;-2.85;-2.85	4.37	4.37	0.52481	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.97052	0.9037	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98597	1.0657	10	0.87932	D	0	-19.2141	16.0708	0.80928	0.0:1.0:0.0:0.0	.	201;85;87	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	H	201;87;87;85	ENSP00000321606:D201H;ENSP00000380987:D87H;ENSP00000425742:D85H	ENSP00000321606:D201H	D	-	1	0	CRMP1	5913708	1.000000	0.71417	0.772000	0.31596	0.470000	0.32858	7.132000	0.77251	2.251000	0.74343	0.561000	0.74099	GAT		0.572	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		30	68	0	0	0	0	30	68				
UGDH	7358	broad.mit.edu	37	4	39523092	39523092	+	Missense_Mutation	SNP	T	T	C	rs369608407		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:39523092T>C	ENST00000316423.6	-	2	383	c.41A>G	c.(40-42)tAt>tGt	p.Y14C	UGDH_ENST00000515398.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.Y14C|UGDH_ENST00000506179.1_Missense_Mutation_p.Y14C|UGDH_ENST00000507089.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	14					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TCCTCCAACATAGCCTGCACC	0.373																																						uc003guk.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(40-42)TAT>TGT		UDP-glucose dehydrogenase	NADH(DB00157)	T	CYS/TYR,CYS/TYR,	0,4406		0,0,2203	151.0	132.0	138.0		41,41,	6.1	1.0	4		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	UGDH	NM_001184700.1,NM_003359.3,NM_001184701.1	194,194,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	14/428,14/495,	39523092	1,13005	2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39523092T>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.41A>G	4.37:g.39523092T>C	ENSP00000319501:p.Tyr14Cys					UGDH_uc011byp.1_Intron|UGDH_uc003gul.1_Missense_Mutation_p.Y14C	p.Y14C	NM_003359	NP_003350	O60701	UGDH_HUMAN			2	357	-			14			NAD.		B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.41A>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775463	0.90108	0.0	1.16E-4	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	6.07	6.07	0.98685	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	H	0.98664	4.295	0.80722	D	1	P;D	0.89917	0.868;1.0	P;D	0.97110	0.695;1.0	D	0.98374	1.0555	10	0.87932	D	0	-0.1625	15.8218	0.78654	0.0:0.0:0.0:1.0	.	14;14	B3KUU2;O60701	.;UGDH_HUMAN	C	14;14;14;27;14;14;14;14	ENSP00000319501:Y14C;ENSP00000422909:Y14C;ENSP00000421757:Y14C;ENSP00000421954:Y27C;ENSP00000425834:Y14C;ENSP00000422603:Y14C;ENSP00000422565:Y14C;ENSP00000427708:Y14C	ENSP00000319501:Y14C	Y	-	2	0	UGDH	39199487	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.665000	0.83852	2.326000	0.78906	0.533000	0.62120	TAT		0.373	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		28	97	0	0	0	0	28	97				
GRXCR1	389207	broad.mit.edu	37	4	42965026	42965026	+	Missense_Mutation	SNP	G	G	A	rs577521620		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:42965026G>A	ENST00000399770.2	+	2	502	c.502G>A	c.(502-504)Gta>Ata	p.V168I		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	168	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.V168I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAACCATCGCGTAAAATTTGA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18453	0.0		0.0	False		,,,				2504	0.0					uc003gwt.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(502-504)GTA>ATA		glutaredoxin, cysteine rich 1							204.0	204.0	204.0					4																	42965026		1862	4096	5958	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42965026G>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.502G>A	4.37:g.42965026G>A	ENSP00000382670:p.Val168Ile						p.V168I	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			2	502	+			168			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.502G>A	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865361	0.71949	.	.	ENSG00000215203	ENST00000399770	T	0.35605	1.3	5.96	5.96	0.96718	Glutaredoxin (2);Thioredoxin-like fold (2);	0.086471	0.46145	U	0.000314	T	0.44953	0.1318	L	0.48935	1.535	0.58432	D	0.999998	D	0.63880	0.993	P	0.50314	0.637	T	0.11036	-1.0604	10	0.37606	T	0.19	-17.2512	19.3889	0.94570	0.0:0.0:1.0:0.0	.	168	A8MXD5	GRCR1_HUMAN	I	168	ENSP00000382670:V168I	ENSP00000382670:V168I	V	+	1	0	GRXCR1	42659783	1.000000	0.71417	0.614000	0.29051	0.729000	0.41735	7.639000	0.83342	2.826000	0.97356	0.655000	0.94253	GTA		0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		5	325	0	0	0	0	5	325				
PROL1	58503	broad.mit.edu	37	4	71275443	71275443	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:71275443T>C	ENST00000399575.2	+	3	572	c.398T>C	c.(397-399)aTt>aCt	p.I133T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	133	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTCTTGCTATTTACCTTCCT	0.443																																						uc003hfi.2		NA																	0				large_intestine(1)	1						c.(397-399)ATT>ACT		proline rich, lacrimal 1							193.0	196.0	195.0					4																	71275443		1870	4109	5979	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275443T>C	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.398T>C	4.37:g.71275443T>C	ENSP00000382485:p.Ile133Thr						p.I133T	NM_021225	NP_067048	Q99935	PROL1_HUMAN			3	572	+		all_hematologic(202;0.196)	133			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.398T>C	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	T	0.855	-0.737317	0.03111	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.83	-1.05	0.10036	.	28.770600	0.00166	N	0.000001	T	0.23249	0.0562	N	0.22421	0.69	0.09310	N	1	B	0.24920	0.114	B	0.12837	0.008	T	0.18587	-1.0332	9	0.62326	D	0.03	.	2.4079	0.04417	0.0:0.1944:0.2989:0.5067	.	133	Q99935	PROL1_HUMAN	T	133	.	ENSP00000382485:I133T	I	+	2	0	PROL1	71310032	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.041000	0.03542	-0.212000	0.10109	0.402000	0.26972	ATT		0.443	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		56	210	0	0	0	0	56	210				
ANK2	287	broad.mit.edu	37	4	114294489	114294489	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:114294489A>C	ENST00000357077.4	+	45	11796	c.11743A>C	c.(11743-11745)Aaa>Caa	p.K3915Q	ANK2_ENST00000506722.1_Missense_Mutation_p.K1821Q|ANK2_ENST00000264366.6_Missense_Mutation_p.K3882Q|ANK2_ENST00000510275.2_Missense_Mutation_p.K513Q|ANK2_ENST00000509550.1_Missense_Mutation_p.K1006Q|ANK2_ENST00000394537.3_Missense_Mutation_p.K1830Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3915					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGCACAGAGAAAGAAGAGAT	0.403																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(11743-11745)AAA>CAA		ankyrin 2 isoform 1							97.0	95.0	96.0					4																	114294489		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114294489A>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11743A>C	4.37:g.114294489A>C	ENSP00000349588:p.Lys3915Gln					ANK2_uc003ibd.3_Missense_Mutation_p.K1821Q|ANK2_uc003ibf.3_Missense_Mutation_p.K1830Q|ANK2_uc011cgc.1_Missense_Mutation_p.K1006Q|ANK2_uc003ibg.3_Missense_Mutation_p.K845Q|ANK2_uc003ibh.3_Missense_Mutation_p.K535Q|ANK2_uc011cgd.1_Missense_Mutation_p.K1217Q|ANK2_uc010imr.2_5'UTR|ANK2_uc010ims.2_5'UTR	p.K3915Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	45	11843	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3882					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.11743A>C	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.44|14.44	2.537282|2.537282	0.45176|0.45176	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000506344|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	T;D|T;T;T;T;T;D;D	0.82433|0.96265	-1.47;-1.61|-0.27;-0.24;-0.31;-0.32;-1.02;-1.99;-3.96	6.06|6.06	3.6|3.6	0.41247|0.41247	.|.	.|0.379490	.|0.22037	.|N	.|0.065512	D|D	0.96140|0.96140	0.8742|0.8742	M|M	0.65975|0.65975	2.015|2.015	0.30396|0.30396	N|N	0.780522|0.780522	.|P;P;P;B;D;P	.|0.59357	.|0.664;0.773;0.664;0.145;0.985;0.58	.|B;B;B;B;P;B	.|0.54590	.|0.08;0.332;0.125;0.049;0.756;0.373	D|D	0.92738|0.92738	0.6205|0.6205	7|10	0.72032|0.37606	D|T	0.01|0.19	.|.	8.8298|8.8298	0.35076|0.35076	0.806:0.1286:0.0654:0.0|0.806:0.1286:0.0654:0.0	.|.	.|1006;896;862;1830;3915;1821	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	A|Q	862;6|1821;896;1830;3915;3882;1821;1006;513;925	ENSP00000422853:E862A;ENSP00000422888:E6A|ENSP00000421067:K1821Q;ENSP00000378044:K1830Q;ENSP00000349588:K3915Q;ENSP00000264366:K3882Q;ENSP00000426944:K1006Q;ENSP00000421023:K513Q;ENSP00000422498:K925Q	ENSP00000422888:E6A|ENSP00000264366:K3882Q	E|K	+|+	2|1	0|0	ANK2|ANK2	114513938|114513938	0.881000|0.881000	0.30235|0.30235	0.195000|0.195000	0.23364|0.23364	0.437000|0.437000	0.31866|0.31866	2.109000|2.109000	0.41863|0.41863	0.518000|0.518000	0.28383|0.28383	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		57	88	0	0	0	0	57	88				
TRAM1L1	133022	broad.mit.edu	37	4	118005580	118005580	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:118005580C>A	ENST00000310754.4	-	1	1156	c.970G>T	c.(970-972)Gta>Tta	p.V324L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	324	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GAATCTTCTACCCACCTCTGA	0.408																																						uc003ibv.3		NA																	0				central_nervous_system(1)	1						c.(970-972)GTA>TTA		translocation associated membrane protein 1-like							147.0	149.0	148.0					4																	118005580		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005580C>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.970G>T	4.37:g.118005580C>A	ENSP00000309402:p.Val324Leu						p.V324L	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			1	1157	-			324			Cytoplasmic (Potential).|TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.970G>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.435400	0.01108	.	.	ENSG00000174599	ENST00000310754	T	0.41065	1.01	3.59	-7.19	0.01500	TRAM/LAG1/CLN8 homology domain (2);	2.586520	0.01759	U	0.030449	T	0.16428	0.0395	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33701	-0.9858	10	0.52906	T	0.07	-23.3635	4.4869	0.11794	0.18:0.3773:0.3441:0.0986	.	324	Q8N609	TR1L1_HUMAN	L	324	ENSP00000309402:V324L	ENSP00000309402:V324L	V	-	1	0	TRAM1L1	118225028	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-3.062000	0.00623	-4.475000	0.00047	-2.135000	0.00341	GTA		0.408	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		135	198	1	0	1.86e-60	2.25e-60	135	198				
DCHS2	54798	broad.mit.edu	37	4	155156833	155156833	+	Missense_Mutation	SNP	C	C	A	rs181609649	byFrequency	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:155156833C>A	ENST00000357232.4	-	25	7605	c.7606G>T	c.(7606-7608)Gcc>Tcc	p.A2536S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2536					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCTGCTGGCGAACACTGCC	0.393																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(7606-7608)GCC>TCC		dachsous 2 isoform 1							59.0	62.0	61.0					4																	155156833		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156833C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7606G>T	4.37:g.155156833C>A	ENSP00000349768:p.Ala2536Ser						p.A2536S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7606	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2536					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7606G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	c	4.336	0.061730	0.08339	.	.	ENSG00000197410	ENST00000357232	T	0.56103	0.48	5.53	-0.268	0.12934	.	0.829228	0.10671	N	0.647569	T	0.33702	0.0872	L	0.38531	1.155	0.09310	N	1	P	0.40144	0.704	B	0.32393	0.145	T	0.10291	-1.0636	10	0.27082	T	0.32	.	7.187	0.25804	0.0:0.504:0.1126:0.3835	.	2536	Q6V1P9	PCD23_HUMAN	S	2536	ENSP00000349768:A2536S	ENSP00000349768:A2536S	A	-	1	0	DCHS2	155376283	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.214000	0.17541	-0.439000	0.07222	-1.200000	0.01667	GCC		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		16	94	1	0	1.03e-11	1.19e-11	16	94				
TKTL2	84076	broad.mit.edu	37	4	164393537	164393537	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:164393537G>C	ENST00000280605.3	-	1	1510	c.1350C>G	c.(1348-1350)ttC>ttG	p.F450L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	450						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.F450F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACTTGGATAGAAAACAGTAC	0.488																																						uc003iqp.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1348-1350)TTC>TTG		transketolase-like 2							91.0	92.0	92.0					4																	164393537		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393537G>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1350C>G	4.37:g.164393537G>C	ENSP00000280605:p.Phe450Leu						p.F450L	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1511	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	450					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1350C>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	4.517	0.095931	0.08681	.	.	ENSG00000151005	ENST00000280605	D	0.91180	-2.8	4.05	2.33	0.28932	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.84293	0.5440	N	0.26130	0.795	0.58432	D	0.999992	P	0.43909	0.821	P	0.47645	0.553	T	0.77419	-0.2595	10	0.12103	T	0.63	-17.3248	8.6703	0.34145	0.1933:0.0:0.8067:0.0	.	450	Q9H0I9	TKTL2_HUMAN	L	450	ENSP00000280605:F450L	ENSP00000280605:F450L	F	-	3	2	TKTL2	164612987	0.998000	0.40836	0.873000	0.34254	0.618000	0.37518	0.379000	0.20585	0.680000	0.31366	-0.142000	0.14014	TTC		0.488	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		39	131	0	0	0	0	39	131				
DNAH5	1767	broad.mit.edu	37	5	13721351	13721351	+	Missense_Mutation	SNP	G	G	A	rs148349630		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:13721351G>A	ENST00000265104.4	-	71	12141	c.12037C>T	c.(12037-12039)Cgc>Tgc	p.R4013C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4013	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGTACTTGCGGGCCTGCCAA	0.408									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12037-12039)CGC>TGC		dynein, axonemal, heavy chain 5		G	CYS/ARG	0,4406		0,0,2203	63.0	65.0	64.0		12037	5.3	1.0	5	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH5	NM_001369.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4013/4625	13721351	1,13005	2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721351G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12037C>T	5.37:g.13721351G>A	ENSP00000265104:p.Arg4013Cys					DNAH5_uc003jfc.2_Missense_Mutation_p.R181C	p.R4013C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			71	12079	-	Lung NSC(4;0.00476)		4013			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12037C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493701	0.64186	0.0	1.16E-4	ENSG00000039139	ENST00000265104	T	0.09538	2.97	5.31	5.31	0.75309	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.56378	-0.7989	10	0.87932	D	0	.	12.4974	0.55935	0.0:0.0:0.7216:0.2784	.	4013	Q8TE73	DYH5_HUMAN	C	4013	ENSP00000265104:R4013C	ENSP00000265104:R4013C	R	-	1	0	DNAH5	13774351	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	4.205000	0.58466	2.636000	0.89361	0.650000	0.86243	CGC		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		52	84	0	0	0	0	52	84				
MAP3K1	4214	broad.mit.edu	37	5	56170929	56170929	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:56170929G>A	ENST00000399503.3	+	10	1757	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	586					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCCTCAGGCGTCTTTCCCAT	0.527																																						uc003jqw.3		NA																	0				ovary(1)|skin(1)	2						c.(1756-1758)CGT>CAT		mitogen-activated protein kinase kinase kinase							120.0	116.0	117.0					5																	56170929		1888	4112	6000	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56170929G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1757G>A	5.37:g.56170929G>A	ENSP00000382423:p.Arg586His						p.R586H	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	10	2258	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	586						Missense_Mutation	SNP	ENST00000399503.3	37	c.1757G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162533	0.94727	.	.	ENSG00000095015	ENST00000399503	T	0.64438	-0.1	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.76615	0.4012	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.76828	-0.2815	10	0.62326	D	0.03	.	19.9574	0.97228	0.0:0.0:1.0:0.0	.	586	Q13233	M3K1_HUMAN	H	586	ENSP00000382423:R586H	ENSP00000382423:R586H	R	+	2	0	MAP3K1	56206686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.441000	0.90313	2.715000	0.92844	0.561000	0.74099	CGT		0.527	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		48	277	0	0	0	0	48	277				
HTR1A	3350	broad.mit.edu	37	5	63256858	63256858	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:63256858A>G	ENST00000323865.3	-	1	922	c.689T>C	c.(688-690)gTc>gCc	p.V230A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	230					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CACCTTTTTGACCGTCTTGCG	0.587																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(688-690)GTC>GCC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						61.0	67.0	65.0					5																	63256858		2203	4299	6502	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256858A>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.689T>C	5.37:g.63256858A>G	ENSP00000316244:p.Val230Ala						p.V230A	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	689	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	230			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.689T>C	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928027	0.52759	.	.	ENSG00000178394	ENST00000323865	T	0.70399	-0.48	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	N	0.11698	0.16	0.80722	D	1	D	0.58268	0.982	P	0.55615	0.78	T	0.60296	-0.7291	10	0.08837	T	0.75	.	15.1521	0.72709	1.0:0.0:0.0:0.0	.	230	P08908	5HT1A_HUMAN	A	230	ENSP00000316244:V230A	ENSP00000316244:V230A	V	-	2	0	HTR1A	63292614	1.000000	0.71417	0.986000	0.45419	0.532000	0.34746	5.319000	0.65835	2.175000	0.68902	0.533000	0.62120	GTC		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		4	99	0	0	0	0	4	99				
SLCO4C1	353189	broad.mit.edu	37	5	101606380	101606380	+	Silent	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:101606380T>A	ENST00000310954.6	-	3	1036	c.750A>T	c.(748-750)ggA>ggT	p.G250G		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAAAGGCTGTTCCCAGAGTAT	0.388																																						uc003knm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(748-750)GGA>GGT		solute carrier organic anion transporter family,							96.0	98.0	98.0					5																	101606380		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101606380T>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.750A>T	5.37:g.101606380T>A							p.G250G	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	3	1037	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	250			Helical; Name=4; (Potential).			Silent	SNP	ENST00000310954.6	37	c.750A>T	CCDS34205.1																																																																																				0.388	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		9	104	0	0	0	0	9	104				
DMXL1	1657	broad.mit.edu	37	5	118469800	118469800	+	Silent	SNP	G	G	A	rs547579179		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:118469800G>A	ENST00000311085.8	+	12	2261	c.2181G>A	c.(2179-2181)cgG>cgA	p.R727R	DMXL1_ENST00000539542.1_Silent_p.R727R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	727										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCTTGCCCGGATTAATTCTC	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		19033	0.001		0.0	False		,,,				2504	0.0					uc003ksd.2		NA																	0				ovary(2)	2						c.(2179-2181)CGG>CGA		Dmx-like 1							99.0	97.0	97.0					5																	118469800		2202	4298	6500	SO:0001819	synonymous_variant	1657							g.chr5:118469800G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2181G>A	5.37:g.118469800G>A						DMXL1_uc010jcl.1_Silent_p.R727R|DMXL1_uc003ksc.1_Silent_p.R727R	p.R727R	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2362	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	727						Silent	SNP	ENST00000311085.8	37	c.2181G>A	CCDS4125.1																																																																																				0.443	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		26	257	0	0	0	0	26	257				
PRR16	51334	broad.mit.edu	37	5	120021755	120021755	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:120021755C>A	ENST00000407149.2	+	2	475	c.266C>A	c.(265-267)gCc>gAc	p.A89D	PRR16_ENST00000446965.1_Missense_Mutation_p.A19D|PRR16_ENST00000505123.1_Missense_Mutation_p.A19D|PRR16_ENST00000379551.2_Missense_Mutation_p.A66D			Q569H4	LARGN_HUMAN	proline rich 16	89					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGCACAACAGCCTCCAGCCTA	0.527																																						uc003ksq.2		NA																	0				pancreas(2)|ovary(1)	3						c.(265-267)GCC>GAC		proline rich 16							117.0	107.0	111.0					5																	120021755		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021755C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.266C>A	5.37:g.120021755C>A	ENSP00000385118:p.Ala89Asp					PRR16_uc003ksp.2_Missense_Mutation_p.A66D|PRR16_uc003ksr.2_Missense_Mutation_p.A19D	p.A89D	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	429	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	89					D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.266C>A		.	.	.	.	.	.	.	.	.	.	C	23.0	4.358755	0.82243	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.46	5.46	0.80206	.	0.058126	0.64402	D	0.000002	T	0.66177	0.2763	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63786	-0.6558	9	.	.	.	-1.1932	18.0795	0.89438	0.0:1.0:0.0:0.0	.	89;66	Q569H4;Q569H4-3	PRR16_HUMAN;.	D	89;66;19;19;19	ENSP00000385118:A89D;ENSP00000368869:A66D;ENSP00000421256:A19D;ENSP00000423446:A19D;ENSP00000405491:A19D	.	A	+	2	0	PRR16	120049654	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	5.702000	0.68332	2.568000	0.86640	0.555000	0.69702	GCC		0.527	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		42	75	1	0	2.66e-13	3.1e-13	42	75				
NR3C1	2908	broad.mit.edu	37	5	142779539	142779539	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:142779539G>A	ENST00000343796.2	-	2	1859	c.866C>T	c.(865-867)cCt>cTt	p.P289L	NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000231509.3_Missense_Mutation_p.P289L|NR3C1_ENST00000415690.2_Missense_Mutation_p.P289L|NR3C1_ENST00000503201.1_Missense_Mutation_p.P289L|NR3C1_ENST00000504572.1_Missense_Mutation_p.P289L|NR3C1_ENST00000424646.2_Missense_Mutation_p.P289L|NR3C1_ENST00000394464.2_Missense_Mutation_p.P289L|NR3C1_ENST00000394466.2_Missense_Mutation_p.P289L	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	289	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AATTACCCCAGGGGTGCAGAG	0.398																																						uc003lmz.2		NA																	0				ovary(2)	2						c.(865-867)CCT>CTT		glucocorticoid receptor isoform alpha	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						86.0	91.0	89.0					5																	142779539		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142779539G>A	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.866C>T	5.37:g.142779539G>A	ENSP00000343205:p.Pro289Leu					NR3C1_uc003lmy.2_Missense_Mutation_p.P289L|NR3C1_uc003lna.2_Missense_Mutation_p.P289L|NR3C1_uc003lnb.2_Missense_Mutation_p.P289L|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.P289L|NR3C1_uc003lnd.2_Missense_Mutation_p.P289L|NR3C1_uc003lne.2_Missense_Mutation_p.P289L|NR3C1_uc003lnf.2_Missense_Mutation_p.P289L|NR3C1_uc003lng.2_Missense_Mutation_p.P289L|NR3C1_uc003lnh.2_Missense_Mutation_p.P289L|NR3C1_uc003lni.2_Missense_Mutation_p.P289L	p.P289L	NM_000176	NP_000167	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1358	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	289			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.866C>T	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895452	0.72639	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.46	5.46	0.80206	.	0.187680	0.47093	D	0.000244	T	0.79470	0.4451	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82250	-0.0550	10	0.87932	D	0	.	19.3185	0.94226	0.0:0.0:1.0:0.0	.	289;289;289	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	L	289	ENSP00000377977:P289L;ENSP00000343205:P289L;ENSP00000387672:P289L;ENSP00000405282:P289L;ENSP00000422518:P289L;ENSP00000377979:P289L;ENSP00000231509:P289L;ENSP00000427672:P289L	ENSP00000231509:P289L	P	-	2	0	NR3C1	142759732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.867000	0.75511	2.553000	0.86117	0.650000	0.86243	CCT		0.398	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			7	331	0	0	0	0	7	331				
FAT2	2196	broad.mit.edu	37	5	150925174	150925174	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:150925174G>T	ENST00000261800.5	-	9	5526	c.5514C>A	c.(5512-5514)ttC>ttA	p.F1838L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1838	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGACACAGAATTGGAAAG	0.463																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5512-5514)TTC>TTA		FAT tumor suppressor 2 precursor							69.0	74.0	73.0					5																	150925174		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925174G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5514C>A	5.37:g.150925174G>T	ENSP00000261800:p.Phe1838Leu					GM2A_uc011dcs.1_Intron	p.F1838L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5527	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1838			Extracellular (Potential).|Cadherin 16.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5514C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508873	0.44660	.	.	ENSG00000086570	ENST00000261800	T	0.39592	1.07	5.25	4.37	0.52481	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000010	T	0.33876	0.0878	L	0.55017	1.72	0.58432	D	0.999998	B	0.26258	0.145	B	0.31869	0.137	T	0.08722	-1.0708	10	0.05436	T	0.98	.	9.6222	0.39727	0.1562:0.0:0.8438:0.0	.	1838	Q9NYQ8	FAT2_HUMAN	L	1838	ENSP00000261800:F1838L	ENSP00000261800:F1838L	F	-	3	2	FAT2	150905367	1.000000	0.71417	0.902000	0.35471	0.926000	0.56050	4.871000	0.63042	2.446000	0.82766	0.467000	0.42956	TTC		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	135	1	0	1.4e-14	1.65e-14	27	135				
GABRP	2568	broad.mit.edu	37	5	170222219	170222219	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:170222219C>A	ENST00000518525.1	+	6	712	c.248C>A	c.(247-249)aCa>aAa	p.T83K	GABRP_ENST00000519385.1_Missense_Mutation_p.T83K|GABRP_ENST00000265294.4_Missense_Mutation_p.T83K|GABRP_ENST00000519598.1_Missense_Mutation_p.T83K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	83					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)|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)	CAGGACTACACAGCCACCATA	0.567																																						uc003mau.2		NA																	0				breast(1)	1						c.(247-249)ACA>AAA		gamma-aminobutyric acid (GABA) A receptor, pi							140.0	142.0	141.0					5																	170222219		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170222219C>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.248C>A	5.37:g.170222219C>A	ENSP00000430100:p.Thr83Lys					GABRP_uc011dev.1_Missense_Mutation_p.T83K	p.T83K	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	446	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	83			Extracellular (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.248C>A	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169038	0.94768	.	.	ENSG00000094755	ENST00000521481;ENST00000521009;ENST00000522868;ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89660	0.6779	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89847	0.4007	10	0.72032	D	0.01	.	19.5561	0.95349	0.0:1.0:0.0:0.0	.	83;83	E7EWG0;O00591	.;GBRP_HUMAN	K	83;83;83;83;4;83;83;83	ENSP00000428804:T83K;ENSP00000428103:T83K;ENSP00000430188:T83K;ENSP00000430100:T83K;ENSP00000265294:T83K;ENSP00000430727:T83K;ENSP00000430772:T83K	ENSP00000265294:T83K	T	+	2	0	GABRP	170154797	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.688000	0.84153	2.784000	0.95788	0.643000	0.83706	ACA		0.567	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		13	274	1	0	8.6e-14	1.01e-13	13	274				
HIST1H2AA	221613	broad.mit.edu	37	6	25726458	25726458	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:25726458C>T	ENST00000297012.3	-	1	332	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	100						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATGGTCACGCCGCCCAAAAGC	0.532																																						uc003nfc.2		NA																	0					0						c.(298-300)GGC>AGC		histone cluster 1, H2aa							304.0	257.0	273.0					6																	25726458		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726458C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.298G>A	6.37:g.25726458C>T	ENSP00000297012:p.Gly100Ser					HIST1H2BA_uc003nfd.2_5'Flank	p.G100S	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	333	-			100						Missense_Mutation	SNP	ENST00000297012.3	37	c.298G>A	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250439	0.22880	.	.	ENSG00000164508	ENST00000297012	T	0.41400	1.0	3.65	0.59	0.17458	Histone-fold (2);Histone H2A (2);	0.251478	0.25798	N	0.028240	T	0.16599	0.0399	L	0.52266	1.64	0.43191	D	0.995029	P	0.52463	0.953	B	0.32624	0.149	T	0.11275	-1.0594	10	0.66056	D	0.02	.	12.6555	0.56786	0.0:0.498:0.502:0.0	.	100	Q96QV6	H2A1A_HUMAN	S	100	ENSP00000297012:G100S	ENSP00000297012:G100S	G	-	1	0	HIST1H2AA	25834437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.101000	0.10973	0.107000	0.17824	0.650000	0.86243	GGC		0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		123	207	0	0	0	0	123	207				
TRIM27	5987	broad.mit.edu	37	6	28872383	28872383	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:28872383G>A	ENST00000377199.3	-	8	1362	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TRIM27_ENST00000377194.3_Missense_Mutation_p.R336W	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	336	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CGCACTTGCCGCAGATTATCA	0.577			T	RET	papillary thyroid																																	uc003nlr.2		NA		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				ovary(1)	1						c.(1006-1008)CGG>TGG		ret finger protein							46.0	50.0	48.0					6																	28872383		1510	2709	4219	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28872383G>A	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1006C>T	6.37:g.28872383G>A	ENSP00000366404:p.Arg336Trp					TRIM27_uc003nls.2_Missense_Mutation_p.R336W|TRIM27_uc003nlt.1_3'UTR	p.R336W	NM_006510	NP_006501	P14373	TRI27_HUMAN			8	1365	-			336			B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.1006C>T	CCDS4654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.27|18.27	3.586904|3.586904	0.66105|0.66105	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000414543|ENST00000377199;ENST00000377194	.|T;T	.|0.14022	.|2.54;2.54	4.74|4.74	3.79|3.79	0.43588|0.43588	.|Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.|0.000000	.|0.46758	.|D	.|0.000268	T|T	0.34454|0.34454	0.0898|0.0898	M|M	0.93720|0.93720	3.45|3.45	0.32297|0.32297	N|N	0.565586|0.565586	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.968;0.998	T|T	0.34825|0.34825	-0.9813|-0.9813	5|10	.|0.87932	.|D	.|0	.|.	9.6155|9.6155	0.39690|0.39690	0.0:0.0:0.6838:0.3162|0.0:0.0:0.6838:0.3162	.|.	.|336;336	.|P14373-2;P14373	.|.;TRI27_HUMAN	V|W	70|336	.|ENSP00000366404:R336W;ENSP00000366399:R336W	.|ENSP00000366399:R336W	A|R	-|-	2|1	0|2	TRIM27|TRIM27	28980362|28980362	0.008000|0.008000	0.16893|0.16893	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.665000|1.665000	0.37449|0.37449	2.570000|2.570000	0.86706|0.86706	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.577	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		9	53	0	0	0	0	9	53				
TNXB	7148	broad.mit.edu	37	6	32038061	32038061	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:32038061C>A	ENST00000375244.3	-	14	5322	c.5121G>T	c.(5119-5121)caG>caT	p.Q1707H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q1707H			P22105	TENX_HUMAN	tenascin XB	1789	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCCTTGAACTGGACCACAA	0.637																																						uc003nzl.2		NA																	0					0						c.(5119-5121)CAG>CAT		tenascin XB isoform 1 precursor							25.0	27.0	26.0					6																	32038061		1914	4132	6046	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32038061C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5121G>T	6.37:g.32038061C>A	ENSP00000364393:p.Gln1707His						p.Q1707H	NM_019105	NP_061978	P22105	TENX_HUMAN			14	5323	-			1789			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5121G>T		.	.	.	.	.	.	.	.	.	.	C	18.09	3.546092	0.65198	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58506	0.33;0.33	4.96	4.96	0.65561	.	0.000000	0.50627	D	0.000111	T	0.69360	0.3102	M	0.86097	2.795	0.27181	N	0.960674	D	0.76494	0.999	D	0.85130	0.997	T	0.65055	-0.6261	10	0.59425	D	0.04	.	11.2685	0.49124	0.1822:0.8178:0.0:0.0	.	1707	P22105-3	.	H	1707	ENSP00000364393:Q1707H;ENSP00000364396:Q1707H	ENSP00000364393:Q1707H	Q	-	3	2	TNXB	32146039	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.294000	0.33365	2.473000	0.83533	0.655000	0.94253	CAG		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	23	1	0	0.000673444	0.000723151	10	23				
ATF6B	1388	broad.mit.edu	37	6	32093996	32093996	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:32093996T>A	ENST00000375203.3	-	5	408	c.376A>T	c.(376-378)Aca>Tca	p.T126S	ATF6B_ENST00000375201.4_Missense_Mutation_p.T123S|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	126					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AAGGACTCTGTCTTCACATGG	0.542																																						uc003nzn.2		NA																	0					0						c.(376-378)ACA>TCA		activating transcription factor 6 beta isoform							84.0	75.0	78.0					6																	32093996		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32093996T>A		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.376A>T	6.37:g.32093996T>A	ENSP00000364349:p.Thr126Ser					ATF6B_uc003nzo.2_Missense_Mutation_p.T123S|ATF6B_uc011dpg.1_Missense_Mutation_p.T60S|ATF6B_uc011dph.1_Missense_Mutation_p.T126S	p.T126S	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			5	409	-			126			Cytoplasmic (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.376A>T	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	T	8.458	0.854740	0.17106	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.54279	0.58;1.32	5.25	2.82	0.32997	.	1.001520	0.08053	U	0.996902	T	0.11580	0.0282	N	0.24115	0.695	0.20196	N	0.999925	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.10450	0.005;0.003;0.001	T	0.32903	-0.9889	10	0.06365	T	0.9	-0.0885	4.4085	0.11421	0.1844:0.0913:0.0:0.7244	.	126;123;126	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	S	126;123	ENSP00000364349:T126S;ENSP00000364347:T123S	ENSP00000364347:T123S	T	-	1	0	ATF6B	32201974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.553000	0.23391	0.437000	0.26423	0.529000	0.55759	ACA		0.542	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			49	71	0	0	0	0	49	71				
C6orf165	154313	broad.mit.edu	37	6	88138453	88138453	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:88138453A>G	ENST00000507897.1	+	9	1153	c.1070A>G	c.(1069-1071)cAc>cGc	p.H357R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.H357R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	357										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTGGGTGCTCACGAACTATAC	0.408																																						uc003plv.2		NA																	0				central_nervous_system(1)	1						c.(1069-1071)CAC>CGC		hypothetical protein LOC154313 isoform 1							179.0	157.0	165.0					6																	88138453		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88138453A>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1070A>G	6.37:g.88138453A>G	ENSP00000426769:p.His357Arg					C6orf165_uc003plw.2_Missense_Mutation_p.H169R|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.H357R	p.H357R	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	9	1162	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	357					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1070A>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303250	0.23736	.	.	ENSG00000213204	ENST00000369562	T	0.29142	1.58	5.18	5.18	0.71444	.	0.151595	0.64402	D	0.000011	T	0.22666	0.0547	M	0.72118	2.19	0.44555	D	0.997517	P	0.41232	0.743	B	0.37267	0.245	T	0.10636	-1.0621	10	0.56958	D	0.05	.	15.0438	0.71811	1.0:0.0:0.0:0.0	.	357	Q8IYR0	CF165_HUMAN	R	357	ENSP00000358575:H357R	ENSP00000358575:H357R	H	+	2	0	C6orf165	88195172	1.000000	0.71417	0.616000	0.29078	0.022000	0.10575	6.665000	0.74442	1.928000	0.55862	0.528000	0.53228	CAC		0.408	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		85	134	0	0	0	0	85	134				
SLC16A10	117247	broad.mit.edu	37	6	111498518	111498518	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:111498518C>T	ENST00000368851.5	+	3	767	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	198					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTTCAAGAAGCGCCTTGGACT	0.498																																						uc003pus.2		NA																	0					0						c.(592-594)CGC>TGC		solute carrier family 16, member 10							105.0	102.0	103.0					6																	111498518		2203	4300	6503	SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111498518C>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.592C>T	6.37:g.111498518C>T	ENSP00000357844:p.Arg198Cys					SLC16A10_uc003pur.3_Missense_Mutation_p.R198C|SLC16A10_uc003put.2_5'UTR	p.R198C	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	3	767	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	198			Extracellular (Potential).		B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	c.592C>T	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439148	0.83885	.	.	ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853	T	0.50277	0.75	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);	0.095287	0.64402	D	0.000001	T	0.73001	0.3531	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.79734	-0.1679	10	0.87932	D	0	.	19.143	0.93452	0.0:1.0:0.0:0.0	.	198;198	Q8TF71;Q05BR4	MOT10_HUMAN;.	C	198;198;89	ENSP00000357844:R198C	ENSP00000357844:R198C	R	+	1	0	SLC16A10	111605211	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.556000	0.67307	2.578000	0.87016	0.563000	0.77884	CGC		0.498	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			38	107	0	0	0	0	38	107				
TXLNB	167838	broad.mit.edu	37	6	139568987	139568987	+	Missense_Mutation	SNP	C	C	A	rs370464179		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:139568987C>A	ENST00000358430.3	-	8	1369	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	379						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TGGCAAACACCTCGTTGCTTT	0.383																																						uc011eds.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1135-1137)GAG>GAT		taxilin beta							177.0	173.0	174.0					6																	139568987		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139568987C>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1137G>T	6.37:g.139568987C>A	ENSP00000351206:p.Glu379Asp						p.E379D	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	8	1302	-			379			Potential.		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1137G>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244324	0.39697	.	.	ENSG00000164440	ENST00000358430	T	0.78481	-1.18	5.22	3.31	0.37934	.	0.205898	0.50627	D	0.000104	T	0.57051	0.2027	L	0.35288	1.05	0.40433	D	0.97996	P	0.41978	0.767	P	0.49561	0.615	T	0.57573	-0.7788	9	.	.	.	-21.9516	3.5035	0.07681	0.1701:0.4454:0.0:0.3845	.	379	Q8N3L3	TXLNB_HUMAN	D	379	ENSP00000351206:E379D	.	E	-	3	2	TXLNB	139610680	0.994000	0.37717	1.000000	0.80357	0.361000	0.29550	0.331000	0.19733	0.558000	0.29135	-0.140000	0.14226	GAG		0.383	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		4	180	1	0	0.00024832	0.000271168	4	180				
ARID1B	57492	broad.mit.edu	37	6	157528336	157528336	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:157528336A>G	ENST00000350026.5	+	19	6023	c.6022A>G	c.(6022-6024)Agg>Ggg	p.R2008G	ARID1B_ENST00000275248.4_Missense_Mutation_p.R2003G|ARID1B_ENST00000367148.1_Missense_Mutation_p.R2061G|ARID1B_ENST00000346085.5_Missense_Mutation_p.R2021G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2008					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGAGGTCTTGAGGGATAACAC	0.542																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(6007-6009)AGG>GGG		AT rich interactive domain 1B (SWI1-like)							114.0	111.0	112.0					6																	157528336		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528336A>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6022A>G	6.37:g.157528336A>G	ENSP00000055163:p.Arg2008Gly					ARID1B_uc003qqo.2_Missense_Mutation_p.R1963G|ARID1B_uc003qqp.2_Missense_Mutation_p.R1950G	p.R2003G	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6159	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2008					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6007A>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367409	0.42003	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.4	-0.544	0.11847	.	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.75590	-0.3265	10	0.87932	D	0	.	18.374	0.90430	0.7793:0.2207:0.0:0.0	.	2008;2021;2003	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	G	2021;2008;2061;2003;1530	ENSP00000344546:R2021G;ENSP00000055163:R2008G;ENSP00000356116:R2061G;ENSP00000275248:R2003G;ENSP00000412835:R1530G	ENSP00000275248:R2003G	R	+	1	2	ARID1B	157570028	0.952000	0.32445	0.967000	0.41034	0.997000	0.91878	0.251000	0.18257	-0.020000	0.14032	0.528000	0.53228	AGG		0.542	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		3	126	0	0	0	0	3	126				
FAM120B	84498	broad.mit.edu	37	6	170626814	170626814	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:170626814A>G	ENST00000476287.1	+	2	444	c.336A>G	c.(334-336)atA>atG	p.I112M	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.I135M|FAM120B_ENST00000540480.1_Missense_Mutation_p.I124M	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	112					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ACAGGGAGATATCCAGGATTT	0.453																																						uc003qxp.2		NA																	0				ovary(1)	1						c.(334-336)ATA>ATG		family with sequence similarity 120B							85.0	80.0	81.0					6																	170626814		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626814A>G	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.336A>G	6.37:g.170626814A>G	ENSP00000417970:p.Ile112Met					FAM120B_uc003qxo.1_Missense_Mutation_p.I112M|FAM120B_uc011ehd.1_Intron	p.I112M	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	444	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	112					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.336A>G	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082321	0.36758	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.46451	0.87;0.87;0.87	5.45	-9.66	0.00534	.	0.155058	0.56097	D	0.000039	T	0.29945	0.0749	M	0.62723	1.935	0.80722	D	1	D;D	0.67145	0.996;0.987	D;P	0.64237	0.923;0.897	T	0.59343	-0.7472	10	0.48119	T	0.1	-24.1206	4.717	0.12899	0.1552:0.3419:0.0568:0.4461	.	112;112	Q96EK7;F2Z2E1	F120B_HUMAN;.	M	124;135;112	ENSP00000444125:I124M;ENSP00000440125:I135M;ENSP00000417970:I112M	ENSP00000436640:I112M	I	+	3	3	FAM120B	170468739	0.042000	0.20092	0.013000	0.15412	0.349000	0.29174	-0.178000	0.09782	-1.875000	0.01132	-0.313000	0.08912	ATA		0.453	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		40	114	0	0	0	0	40	114				
SDK1	221935	broad.mit.edu	37	7	4051785	4051785	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:4051785C>T	ENST00000404826.2	+	16	2477	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	SDK1_ENST00000389531.3_Missense_Mutation_p.R780W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	780	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCAGTGGGCGGACTAATCA	0.512																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(2338-2340)CGG>TGG		sidekick 1 precursor							127.0	140.0	136.0					7																	4051785		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4051785C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2338C>T	7.37:g.4051785C>T	ENSP00000385899:p.Arg780Trp					SDK1_uc010kso.2_Missense_Mutation_p.R56W	p.R780W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	16	2477	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	780			Fibronectin type-III 2.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2338C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107646	0.56291	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58060	0.36;0.36	5.15	4.25	0.50352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.68860	0.3047	M	0.88704	2.975	0.52501	D	0.999954	D;P	0.54601	0.967;0.909	P;B	0.51999	0.687;0.443	T	0.76621	-0.2892	10	0.87932	D	0	.	13.7917	0.63146	0.286:0.714:0.0:0.0	.	780;780	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	W	780	ENSP00000385899:R780W;ENSP00000374182:R780W	ENSP00000374182:R780W	R	+	1	2	SDK1	4018311	0.802000	0.28943	0.987000	0.45799	0.611000	0.37282	1.286000	0.33273	1.115000	0.41800	0.563000	0.77884	CGG		0.512	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		6	318	0	0	0	0	6	318				
THSD7A	221981	broad.mit.edu	37	7	11418786	11418786	+	Missense_Mutation	SNP	A	A	G	rs202184861	byFrequency	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:11418786A>G	ENST00000423059.4	-	26	4963	c.4712T>C	c.(4711-4713)gTg>gCg	p.V1571A	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1571					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTGGTTTTCACATCTCCTCT	0.522										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(4711-4713)GTG>GCG		thrombospondin, type I, domain containing 7A							128.0	125.0	126.0					7																	11418786		1916	4136	6052	SO:0001583	missense	221981					integral to membrane		g.chr7:11418786A>G		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4712T>C	7.37:g.11418786A>G	ENSP00000406482:p.Val1571Ala	HNSCC(18;0.044)				uc003ssb.2_Intron|THSD7A_uc003ssd.3_Missense_Mutation_p.V75A	p.V1571A	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	25	4964	-			1571			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.4712T>C	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699982	0.88924	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.62364	0.03	6.07	4.9	0.64082	.	0.106892	0.64402	D	0.000005	T	0.58438	0.2122	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.16396	0.007;0.017	B;B	0.14578	0.011;0.011	T	0.55055	-0.8200	10	0.48119	T	0.1	.	12.6494	0.56753	0.8759:0.0:0.0:0.124	.	1571;1571	Q9UPZ6;C9JL67	THS7A_HUMAN;.	A	1571	ENSP00000406482:V1571A	ENSP00000262042:V1571A	V	-	2	0	THSD7A	11385311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.129000	0.77225	1.091000	0.41335	0.528000	0.53228	GTG		0.522	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		24	152	0	0	0	0	24	152				
NME8	51314	broad.mit.edu	37	7	37927910	37927910	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:37927910C>T	ENST00000199447.4	+	15	1651	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	NME8_ENST00000440017.1_Missense_Mutation_p.P427S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	427	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GGACAGTTTGCCGGTCAACCA	0.368																																						uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1279-1281)CCG>TCG		thioredoxin domain containing 3							98.0	96.0	96.0					7																	37927910		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37927910C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1279C>T	7.37:g.37927910C>T	ENSP00000199447:p.Pro427Ser						p.P427S	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			15	1651	+			427			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1279C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001785	0.35320	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.52057	0.68;0.68	4.42	4.42	0.53409	.	0.957326	0.08619	N	0.918683	T	0.55721	0.1938	L	0.43554	1.36	0.32934	D	0.517549	P	0.38677	0.642	P	0.51550	0.673	T	0.54091	-0.8345	10	0.34782	T	0.22	-13.8286	12.7452	0.57278	0.0:0.8337:0.1663:0.0	.	427	Q8N427	TXND3_HUMAN	S	427	ENSP00000199447:P427S;ENSP00000397063:P427S	ENSP00000199447:P427S	P	+	1	0	TXNDC3	37894435	0.562000	0.26586	0.835000	0.33067	0.035000	0.12851	2.365000	0.44196	2.758000	0.94735	0.563000	0.77884	CCG		0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		4	180	0	0	0	0	4	180				
EPDR1	54749	broad.mit.edu	37	7	37989814	37989814	+	Missense_Mutation	SNP	T	T	A	rs200925563		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:37989814T>A	ENST00000199448.4	+	3	870	c.491T>A	c.(490-492)aTt>aAt	p.I164N	EPDR1_ENST00000425345.1_Missense_Mutation_p.I103N|EPDR1_ENST00000476620.1_Missense_Mutation_p.I62N|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000559325.1_Missense_Mutation_p.I284N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	164					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GAAACCTGGATTGGCATCTAT	0.358																																						uc003tfp.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(850-852)ATT>AAT		ependymin related protein 1 precursor							49.0	50.0	50.0					7																	37989814		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37989814T>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.491T>A	7.37:g.37989814T>A	ENSP00000199448:p.Ile164Asn					EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Missense_Mutation_p.I103N	p.I284N	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			3	870	+			164					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.851T>A	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211891	0.79240	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	4.8	4.8	0.61643	.	0.132843	0.49916	D	0.000130	T	0.69061	0.3069	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.68943	0.948;0.961	T	0.72164	-0.4373	9	0.72032	D	0.01	-9.5744	13.7572	0.62943	0.0:0.0:0.0:1.0	.	103;284	C9JYS3;A4D1W8	.;.	N	62;284;103	.	ENSP00000199448:I284N	I	+	2	0	EPDR1	37956339	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.825000	0.86693	2.157000	0.67596	0.533000	0.62120	ATT		0.358	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		11	109	0	0	0	0	11	109				
ADCY1	107	broad.mit.edu	37	7	45750144	45750144	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:45750144G>T	ENST00000297323.7	+	19	2972	c.2950G>T	c.(2950-2952)Gtg>Ttg	p.V984L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	984			V -> M (in dbSNP:rs2293106).		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTTGGCCCTGTGGTGGCTGG	0.582																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2950-2952)GTG>TTG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						88.0	83.0	84.0					7																	45750144		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45750144G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2950G>T	7.37:g.45750144G>T	ENSP00000297323:p.Val984Leu						p.V984L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			19	2968	+			984			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2950G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771218	0.90108	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.44881	0.91	4.97	4.97	0.65823	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.56842	-0.7912	10	0.44086	T	0.13	.	16.1123	0.81271	0.0:0.0:1.0:0.0	.	984	Q08828	ADCY1_HUMAN	L	984	ENSP00000297323:V984L	ENSP00000297323:V984L	V	+	1	0	ADCY1	45716669	1.000000	0.71417	0.967000	0.41034	0.745000	0.42441	9.044000	0.93805	2.739000	0.93911	0.561000	0.74099	GTG		0.582	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		18	101	1	0	1.11e-09	1.27e-09	18	101				
IGFBP3	3486	broad.mit.edu	37	7	45956911	45956911	+	Silent	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:45956911T>C	ENST00000275521.6	-	2	664	c.531A>G	c.(529-531)aaA>aaG	p.K177K	IGFBP3_ENST00000381083.4_Silent_p.K183K|IGFBP3_ENST00000381086.5_Silent_p.K80K|IGFBP3_ENST00000465642.1_5'UTR	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	177					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TAGCATGCCCTTTCTTGATGA	0.547											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tns.2		NA																	0				large_intestine(2)|lung(1)	3						c.(529-531)AAA>AAG		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						141.0	125.0	130.0					7																	45956911		2203	4300	6503	SO:0001819	synonymous_variant	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956911T>C		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.531A>G	7.37:g.45956911T>C			OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Silent_p.K183K|IGFBP3_uc003tnt.2_Silent_p.K80K	p.K177K	NM_000598	NP_000589	P17936	IBP3_HUMAN			2	663	-			177					A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Silent	SNP	ENST00000275521.6	37	c.531A>G	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.97|10.97	1.501226|1.501226	0.26861|0.26861	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000428530|ENST00000417621	T|.	0.26373|.	1.74|.	5.55|5.55	-4.07|-4.07	0.03975|0.03975	.|.	1.210450|.	0.06356|.	U|.	0.710694|.	T|T	0.56963|0.56963	0.2021|0.2021	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57659|0.57659	-0.7773|-0.7773	7|4	0.39692|.	T|.	0.17|.	-24.5706|-24.5706	12.4609|12.4609	0.55731|0.55731	0.0:0.5495:0.0:0.4505|0.0:0.5495:0.0:0.4505	.|.	.|.	.|.	.|.	R|G	29|39	ENSP00000390298:K29R|.	ENSP00000390298:K29R|.	K|R	-|-	2|1	0|2	IGFBP3|IGFBP3	45923436|45923436	1.000000|1.000000	0.71417|0.71417	0.547000|0.547000	0.28179|0.28179	0.988000|0.988000	0.76386|0.76386	0.494000|0.494000	0.22467|0.22467	-0.704000|-0.704000	0.05042|0.05042	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.547	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		116	162	0	0	0	0	116	162				
PCLO	27445	broad.mit.edu	37	7	82764455	82764455	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:82764455T>G	ENST00000333891.9	-	3	2748	c.2411A>C	c.(2410-2412)cAg>cCg	p.Q804P	PCLO_ENST00000423517.2_Missense_Mutation_p.Q804P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGAAAACTCTGTGAGGGTTT	0.433																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(2410-2412)CAG>CCG		piccolo isoform 1							187.0	172.0	177.0					7																	82764455		1851	4101	5952	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764455T>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2411A>C	7.37:g.82764455T>G	ENSP00000334319:p.Gln804Pro					PCLO_uc003uhv.2_Missense_Mutation_p.Q804P	p.Q804P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2700	-			750			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2411A>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	6.902	0.535931	0.13188	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17528	2.27;2.27	5.91	5.91	0.95273	.	.	.	.	.	T	0.11879	0.0289	N	0.24115	0.695	0.20403	N	0.999902	B;B	0.28783	0.222;0.222	B;B	0.20767	0.031;0.031	T	0.15954	-1.0419	9	0.87932	D	0	.	8.5818	0.33632	0.1279:0.0:0.1336:0.7385	.	804;804	Q9Y6V0-5;Q9Y6V0-6	.;.	P	750;804;804	ENSP00000334319:Q804P;ENSP00000388393:Q804P	ENSP00000334319:Q804P	Q	-	2	0	PCLO	82602391	0.424000	0.25490	0.772000	0.31596	0.951000	0.60555	1.437000	0.34991	2.259000	0.74868	0.528000	0.53228	CAG		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		80	185	0	0	0	0	80	185				
GRM3	2913	broad.mit.edu	37	7	86415678	86415678	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:86415678C>T	ENST00000361669.2	+	3	1669	c.570C>T	c.(568-570)acC>acT	p.T190T	GRM3_ENST00000394720.2_Silent_p.T188T|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Silent_p.T190T|GRM3_ENST00000536043.1_Silent_p.T62T|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	190					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TTGCCAGGACCGTGCCCCCCG	0.567																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(568-570)ACC>ACT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						120.0	112.0	115.0					7																	86415678		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415678C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.570C>T	7.37:g.86415678C>T						GRM3_uc010lef.2_Silent_p.T188T|GRM3_uc010leg.2_Silent_p.T62T|GRM3_uc010leh.2_Intron	p.T190T	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1669	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		190			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.570C>T	CCDS5600.1																																																																																				0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			41	153	0	0	0	0	41	153				
RELN	5649	broad.mit.edu	37	7	103252122	103252122	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:103252122A>T	ENST00000428762.1	-	21	2990	c.2831T>A	c.(2830-2832)aTg>aAg	p.M944K	RELN_ENST00000343529.5_Missense_Mutation_p.M944K|RELN_ENST00000424685.2_Missense_Mutation_p.M944K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	944					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGTTGTCCATGTGTGGGGT	0.463																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2830-2832)ATG>AAG		reelin isoform a							158.0	143.0	148.0					7																	103252122		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103252122A>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2831T>A	7.37:g.103252122A>T	ENSP00000392423:p.Met944Lys					RELN_uc010liz.2_Missense_Mutation_p.M944K	p.M944K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	21	2991	-			944					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2831T>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015115	0.75161	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.82	5.82	0.92795	.	0.133396	0.64402	D	0.000002	T	0.10165	0.0249	N	0.08118	0	0.53688	D	0.999974	B;P	0.36086	0.451;0.536	B;B	0.31101	0.124;0.091	T	0.20240	-1.0281	10	0.08599	T	0.76	.	16.1832	0.81925	1.0:0.0:0.0:0.0	.	944;944	P78509-2;P78509	.;RELN_HUMAN	K	944	ENSP00000392423:M944K;ENSP00000345694:M944K;ENSP00000388446:M944K	ENSP00000345694:M944K	M	-	2	0	RELN	103039358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.904000	0.92590	2.228000	0.72767	0.533000	0.62120	ATG		0.463	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		32	46	0	0	0	0	32	46				
GPR22	2845	broad.mit.edu	37	7	107115239	107115239	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:107115239G>A	ENST00000304402.4	+	3	2077	c.734G>A	c.(733-735)aGa>aAa	p.R245K	COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATAGGCACAAGATTTTCAACA	0.378																																						uc003vef.2		NA																	0				ovary(2)	2						c.(733-735)AGA>AAA		G protein-coupled receptor 22							69.0	64.0	66.0					7																	107115239		2203	4297	6500	SO:0001583	missense	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107115239G>A	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.734G>A	7.37:g.107115239G>A	ENSP00000302676:p.Arg245Lys					COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	p.R245K	NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	2080	+			245			Cytoplasmic (Potential).		O14554	Missense_Mutation	SNP	ENST00000304402.4	37	c.734G>A	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971008	0.34754	.	.	ENSG00000172209	ENST00000304402	T	0.38722	1.12	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.051334	0.85682	D	0.000000	T	0.43809	0.1264	L	0.41710	1.295	0.48571	D	0.999671	B	0.32829	0.386	B	0.41374	0.355	T	0.15492	-1.0435	10	0.19590	T	0.45	-11.6511	19.5126	0.95148	0.0:0.0:1.0:0.0	.	245	Q99680	GPR22_HUMAN	K	245	ENSP00000302676:R245K	ENSP00000302676:R245K	R	+	2	0	GPR22	106902475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.653000	0.74382	2.618000	0.88619	0.585000	0.79938	AGA		0.378	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			14	52	0	0	0	0	14	52				
NOM1	64434	broad.mit.edu	37	7	156755792	156755792	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:156755792G>T	ENST00000275820.3	+	6	1849	c.1834G>T	c.(1834-1836)Gtg>Ttg	p.V612L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	612						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGGTGGATTGTGGGGTCCGC	0.622																																						uc003wmy.2		NA																	0					0						c.(1834-1836)GTG>TTG		nucleolar protein with MIF4G domain 1							52.0	46.0	48.0					7																	156755792		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156755792G>T	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1834G>T	7.37:g.156755792G>T	ENSP00000275820:p.Val612Leu					NOM1_uc010lqp.1_Missense_Mutation_p.V61L	p.V612L	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	6	1849	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	612					Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.1834G>T	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309265	0.81247	.	.	ENSG00000146909	ENST00000275820	T	0.21734	1.99	4.64	3.72	0.42706	.	0.137279	0.48286	D	0.000188	T	0.37433	0.1003	M	0.93594	3.435	0.58432	D	0.999998	P	0.36990	0.577	B	0.41174	0.349	T	0.31558	-0.9939	10	0.38643	T	0.18	-25.3049	9.9304	0.41519	0.186:0.0:0.814:0.0	.	612	Q5C9Z4	NOM1_HUMAN	L	612	ENSP00000275820:V612L	ENSP00000275820:V612L	V	+	1	0	NOM1	156448553	1.000000	0.71417	0.983000	0.44433	0.982000	0.71751	4.905000	0.63286	1.012000	0.39366	0.555000	0.69702	GTG		0.622	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		17	46	1	0	6.94e-10	7.95e-10	17	46				
DOCK5	80005	broad.mit.edu	37	8	25166333	25166333	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:25166333C>G	ENST00000276440.7	+	12	1128	c.1084C>G	c.(1084-1086)Ctc>Gtc	p.L362V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	362					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCAGAGGCAGCTCATCATGTC	0.468																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	0				ovary(3)	3						c.(1084-1086)CTC>GTC		dedicator of cytokinesis 5							79.0	66.0	70.0					8																	25166333		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25166333C>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1084C>G	8.37:g.25166333C>G	ENSP00000276440:p.Leu362Val					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.L76V|DOCK5_uc003xei.2_5'Flank	p.L362V	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	12	1221	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	362					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1084C>G	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.91|13.91	2.376558|2.376558	0.42105|0.42105	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.16597	.|2.33	6.11|6.11	3.27|3.27	0.37495|0.37495	.|.	.|0.207411	.|0.31461	.|N	.|0.007618	T|T	0.14399|0.14399	0.0348|0.0348	L|L	0.55481|0.55481	1.735|1.735	0.53005|0.53005	D|D	0.999962|0.999962	.|B;P	.|0.37122	.|0.016;0.583	.|B;B	.|0.34489	.|0.041;0.184	T|T	0.05920|0.05920	-1.0856|-1.0856	5|10	.|0.31617	.|T	.|0.26	.|.	7.3928|7.3928	0.26919|0.26919	0.2572:0.6136:0.0:0.1291|0.2572:0.6136:0.0:0.1291	.|.	.|137;362	.|Q68DL4;Q9H7D0	.|.;DOCK5_HUMAN	G|V	133|362	.|ENSP00000276440:L362V	.|ENSP00000276440:L362V	A|L	+|+	2|1	0|0	DOCK5|DOCK5	25222250|25222250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	1.509000|1.509000	0.35780|0.35780	0.406000|0.406000	0.25560|0.25560	-0.152000|-0.152000	0.13540|0.13540	GCT|CTC		0.468	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		27	26	0	0	0	0	27	26				
SLCO5A1	81796	broad.mit.edu	37	8	70591756	70591756	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:70591756C>G	ENST00000260126.4	-	8	2587	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K627N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K572N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	627						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGAGATAAGTCTTGACAATAA	0.448																																						uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1879-1881)AAG>AAC		solute carrier organic anion transporter family,							178.0	176.0	177.0					8																	70591756		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70591756C>G	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1881G>C	8.37:g.70591756C>G	ENSP00000260126:p.Lys627Asn					SLCO5A1_uc010lzb.2_Missense_Mutation_p.K572N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.K627N	p.K627N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		8	2588	-	Breast(64;0.0654)		627			Extracellular (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1881G>C	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953262	0.53293	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.44881	1.02;1.44;0.91	5.62	-2.5	0.06384	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.205284	0.41396	D	0.000896	T	0.40886	0.1135	L	0.34521	1.04	0.42030	D	0.991026	D;D;D	0.63880	0.993;0.991;0.993	P;P;P	0.60415	0.874;0.846;0.863	T	0.23084	-1.0198	10	0.23302	T	0.38	.	11.275	0.49161	0.0:0.4022:0.0:0.5978	.	572;627;627	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	N	627;627;572	ENSP00000260126:K627N;ENSP00000434422:K627N;ENSP00000431611:K572N	ENSP00000260126:K627N	K	-	3	2	SLCO5A1	70754310	0.957000	0.32711	0.870000	0.34147	0.912000	0.54170	0.049000	0.14099	-0.444000	0.07170	-0.302000	0.09304	AAG		0.448	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		47	229	0	0	0	0	47	229				
KCNB2	9312	broad.mit.edu	37	8	73480489	73480489	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:73480489G>C	ENST00000523207.1	+	2	1108	c.520G>C	c.(520-522)Gat>Cat	p.D174H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	174					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCTGCCCTGATAAAAGGAA	0.438																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(520-522)GAT>CAT		potassium voltage-gated channel, Shab-related							105.0	113.0	110.0					8																	73480489		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480489G>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.520G>C	8.37:g.73480489G>C	ENSP00000430846:p.Asp174His						p.D174H	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1108	+	Breast(64;0.137)		174			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.520G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248490	0.59103	.	.	ENSG00000182674	ENST00000523207	D	0.97016	-4.21	5.77	5.77	0.91146	.	0.502898	0.14600	U	0.309720	D	0.94152	0.8124	L	0.35542	1.07	0.53005	D	0.999969	B	0.06786	0.001	B	0.06405	0.002	D	0.88521	0.3096	10	0.56958	D	0.05	.	19.973	0.97292	0.0:0.0:1.0:0.0	.	174	Q92953	KCNB2_HUMAN	H	174	ENSP00000430846:D174H	ENSP00000430846:D174H	D	+	1	0	KCNB2	73643043	1.000000	0.71417	0.583000	0.28640	0.929000	0.56500	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	GAT		0.438	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		37	212	0	0	0	0	37	212				
FABP5	2171	broad.mit.edu	37	8	82195651	82195651	+	Missense_Mutation	SNP	A	A	G	rs145774881		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:82195651A>G	ENST00000297258.6	+	2	363	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	RP11-363E6.3_ENST00000518880.1_RNA|FABP5_ENST00000396359.1_Missense_Mutation_p.I10V|RP11-363E6.3_ENST00000517670.1_RNA	NM_001444.2	NP_001435.1	Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	44					epidermis development (GO:0008544)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|response to wounding (GO:0009611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	fatty acid binding (GO:0005504)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			GCCAGATTGTATCATCACTTG	0.393													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19623	0.0		0.0	False		,,,				2504	0.0					uc003yca.1		NA																	0					0						c.(130-132)ATC>GTC		fatty acid binding protein 5		A	VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	41.0	39.0	39.0		130	1.0	1.0	8	dbSNP_134	39	3,8591	3.0+/-9.4	0,3,4294	no	missense	FABP5	NM_001444.2	29	0,5,6495	GG,GA,AA		0.0349,0.0454,0.0385	benign	44/136	82195651	5,12995	2203	4297	6500	SO:0001583	missense	2171				epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity	g.chr8:82195651A>G	M94856	CCDS6228.1	8q21.13	2013-03-01			ENSG00000164687	ENSG00000164687		"""Fatty acid binding protein family"""	3560	protein-coding gene	gene with protein product		605168				1512466	Standard	NM_001444		Approved	E-FABP, PA-FABP, KFABP	uc003yca.2	Q01469	OTTHUMG00000134313	ENST00000297258.6:c.130A>G	8.37:g.82195651A>G	ENSP00000297258:p.Ile44Val						p.I44V	NM_001444	NP_001435	Q01469	FABP5_HUMAN	Epithelial(68;0.102)		2	178	+	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		44					B2R4K0	Missense_Mutation	SNP	ENST00000297258.6	37	c.130A>G	CCDS6228.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.453093	0.26161	4.54E-4	3.49E-4	ENSG00000164687	ENST00000297258;ENST00000396359	T;T	0.08008	3.14;3.14	5.06	1.02	0.19986	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.628544	0.17211	N	0.182724	T	0.06188	0.0160	L	0.37561	1.115	0.23210	N	0.998116	B	0.02656	0.0	B	0.12156	0.007	T	0.36163	-0.9759	10	0.30078	T	0.28	.	6.0614	0.19841	0.6925:0.0:0.1597:0.1478	.	44	Q01469	FABP5_HUMAN	V	44;10	ENSP00000297258:I44V;ENSP00000379647:I10V	ENSP00000297258:I44V	I	+	1	0	FABP5	82358206	0.000000	0.05858	1.000000	0.80357	0.927000	0.56198	-1.376000	0.02561	0.272000	0.22027	-0.263000	0.10527	ATC		0.393	FABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259329.1	NM_001444		9	93	0	0	0	0	9	93				
KCNS2	3788	broad.mit.edu	37	8	99440425	99440425	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:99440425G>A	ENST00000287042.4	+	2	568	c.218G>A	c.(217-219)cGc>cAc	p.R73H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R73H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	73					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R73H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACTTCGACCGCAACCCTGAG	0.597																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(217-219)CGC>CAC		potassium voltage-gated channel,							131.0	101.0	111.0					8																	99440425		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440425G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.218G>A	8.37:g.99440425G>A	ENSP00000287042:p.Arg73His						p.R73H	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	568	+	Breast(36;2.4e-06)		73			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.218G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	g	26.0	4.699534	0.88830	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.90261	-2.64;-2.64	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	H	0.96430	3.82	0.53005	D	0.999963	D	0.89917	1.0	D	0.87578	0.998	D	0.98218	1.0476	10	0.87932	D	0	.	19.1824	0.93629	0.0:0.0:1.0:0.0	.	73	Q9ULS6	KCNS2_HUMAN	H	73	ENSP00000287042:R73H;ENSP00000430712:R73H	ENSP00000287042:R73H	R	+	2	0	KCNS2	99509601	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.866000	0.99616	2.523000	0.85059	0.558000	0.71614	CGC		0.597	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		5	249	0	0	0	0	5	249				
MTSS1	9788	broad.mit.edu	37	8	125577991	125577991	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:125577991C>G	ENST00000518547.1	-	9	1209	c.736G>C	c.(736-738)Gac>Cac	p.D246H	MTSS1_ENST00000523587.1_5'Flank|MTSS1_ENST00000378017.3_Missense_Mutation_p.D246H|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.D46H|MTSS1_ENST00000431961.2_Missense_Mutation_p.D46H|MTSS1_ENST00000524090.1_Missense_Mutation_p.D136H|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000325064.5_Missense_Mutation_p.D250H	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	246	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.|Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTTTCAAGTCCAGAATCACC	0.527																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2		NA																	0				ovary(1)	1						c.(736-738)GAC>CAC		metastasis suppressor 1							88.0	76.0	80.0					8																	125577991		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125577991C>G	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.736G>C	8.37:g.125577991C>G	ENSP00000429064:p.Asp246His					NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'UTR|MTSS1_uc011lio.1_Missense_Mutation_p.D136H|MTSS1_uc003yri.2_Missense_Mutation_p.D46H|MTSS1_uc003yrj.2_Missense_Mutation_p.D246H|MTSS1_uc003yrl.2_Missense_Mutation_p.D250H	p.D246H	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		9	1270	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		246			IMD.|Ser-rich.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.736G>C	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.893234|4.893234	0.91889|0.91889	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118|ENST00000523179	T;T;T;T;T;T;T|.	0.67345|.	1.04;1.1;0.52;1.15;0.52;1.04;-0.26|.	5.42|5.42	5.42|5.42	0.78866|0.78866	IRSp53/MIM homology domain (IMD) (2);|.	0.090481|.	0.85682|.	D|.	0.000000|.	D|D	0.83229|0.83229	0.5209|0.5209	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.998;0.997;0.987;0.999;0.999|.	D|D	0.84225|0.84225	0.0463|0.0463	10|5	0.66056|.	D|.	0.02|.	-25.6134|-25.6134	19.5998|19.5998	0.95557|0.95557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	136;246;246;246;46|.	E7EWW5;A5YM41;O43312;O43312-4;O43312-2|.	.;.;MTSS1_HUMAN;.;.|.	H|A	246;246;46;250;46;136;46|93	ENSP00000367256:D246H;ENSP00000429064:D246H;ENSP00000346119:D46H;ENSP00000322804:D250H;ENSP00000393606:D46H;ENSP00000428319:D136H;ENSP00000428145:D46H|.	ENSP00000322804:D250H|.	D|G	-|-	1|2	0|0	MTSS1|MTSS1	125647172|125647172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.669000|7.669000	0.83911|0.83911	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.527	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		55	50	0	0	0	0	55	50				
CYP11B2	1585	broad.mit.edu	37	8	143996592	143996592	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:143996592C>G	ENST00000323110.2	-	3	467	c.465G>C	c.(463-465)caG>caC	p.Q155H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	155					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGAGGAACCTCTGCACGGCCT	0.637									Familial Hyperaldosteronism type I																													uc003yxk.1		NA																	0					0						c.(463-465)CAG>CAC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						59.0	50.0	53.0					8																	143996592		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996592C>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.465G>C	8.37:g.143996592C>G	ENSP00000325822:p.Gln155His						p.Q155H	NM_000498	NP_000489	P19099	C11B2_HUMAN			3	468	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		155					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.465G>C	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	7.524	0.657319	0.14580	.	.	ENSG00000179142	ENST00000323110	T	0.69040	-0.37	3.44	1.35	0.21983	.	1.304430	0.05206	N	0.505766	T	0.58206	0.2106	L	0.50333	1.59	0.09310	N	1	B	0.15141	0.012	B	0.20577	0.03	T	0.46938	-0.9155	10	0.45353	T	0.12	.	2.4018	0.04403	0.239:0.4807:0.0:0.2803	.	155	P19099	C11B2_HUMAN	H	155	ENSP00000325822:Q155H	ENSP00000325822:Q155H	Q	-	3	2	CYP11B2	143993594	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-1.421000	0.02455	0.739000	0.32628	0.561000	0.74099	CAG		0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			10	59	0	0	0	0	10	59				
TMEM38B	55151	broad.mit.edu	37	9	108483954	108483954	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:108483954T>A	ENST00000374692.3	+	3	523	c.406T>A	c.(406-408)Tat>Aat	p.Y136N	TMEM38B_ENST00000374688.1_Missense_Mutation_p.Y82N	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	136						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TGCTAATAGCTATTACAAAAA	0.388																																						uc004bcu.1		NA																	0				ovary(1)|skin(1)	2						c.(406-408)TAT>AAT		transmembrane protein 38B							85.0	79.0	81.0					9																	108483954		2203	4300	6503	SO:0001583	missense	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108483954T>A	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.406T>A	9.37:g.108483954T>A	ENSP00000363824:p.Tyr136Asn					TMEM38B_uc010mtn.1_Intron	p.Y136N	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN			3	523	+			136			Cytoplasmic (Potential).		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	c.406T>A	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	T	9.796	1.179173	0.21787	.	.	ENSG00000095209	ENST00000374692;ENST00000374688	T;T	0.41758	1.0;0.99	5.6	3.12	0.35913	.	0.233302	0.43260	D	0.000586	T	0.23370	0.0565	L	0.35414	1.06	0.33975	D	0.64725	B	0.14438	0.01	B	0.15052	0.012	T	0.21348	-1.0248	10	0.25751	T	0.34	-12.0455	0.3264	0.00311	0.1941:0.2101:0.1733:0.4225	.	136	Q9NVV0	TM38B_HUMAN	N	136;82	ENSP00000363824:Y136N;ENSP00000363820:Y82N	ENSP00000363820:Y82N	Y	+	1	0	TMEM38B	107523775	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.138000	0.42140	2.118000	0.64928	0.533000	0.62120	TAT		0.388	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		75	44	0	0	0	0	75	44				
CACNA1B	774	broad.mit.edu	37	9	140919617	140919617	+	Silent	SNP	C	C	T	rs147270326	byFrequency	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:140919617C>T	ENST00000371372.1	+	20	3424	c.3279C>T	c.(3277-3279)gtC>gtT	p.V1093V	CACNA1B_ENST00000277551.2_Silent_p.V1093V|CACNA1B_ENST00000371355.4_Silent_p.V1094V|CACNA1B_ENST00000371357.1_Silent_p.V1094V|CACNA1B_ENST00000277549.5_Silent_p.V285V|CACNA1B_ENST00000371367.5_Silent_p.V77V|CACNA1B_ENST00000371363.1_Silent_p.V1093V|CACNA1B_ENST00000545473.1_Silent_p.V77V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1093					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCCACGGTCGTTCCCAGTG	0.617													C|||	8	0.00159744	0.0	0.0	5008	,	,		19747	0.0079		0.0	False		,,,				2504	0.0					uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(3277-3279)GTC>GTT		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)	C		4,4098		0,4,2047	43.0	48.0	47.0		3279	-10.6	0.0	9	dbSNP_134	47	0,8390		0,0,4195	no	coding-synonymous	CACNA1B	NM_000718.3		0,4,6242	TT,TC,CC		0.0,0.0975,0.032		1093/2340	140919617	4,12488	2051	4195	6246	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140919617C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3279C>T	9.37:g.140919617C>T						CACNA1B_uc011mfd.1_Silent_p.V623V|CACNA1B_uc004coi.2_Silent_p.V303V	p.V1093V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	20	3424	+	all_cancers(76;0.166)		1093			Cytoplasmic (Potential).		B1AQK5	Silent	SNP	ENST00000371372.1	37	c.3279C>T	CCDS59522.1																																																																																				0.617	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		28	13	0	0	0	0	28	13				
ASB9	140462	broad.mit.edu	37	X	15268558	15268558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:15268558C>A	ENST00000380488.4	-	5	835	c.562G>T	c.(562-564)Gag>Tag	p.E188*	ASB9_ENST00000380483.3_Nonsense_Mutation_p.E178*|ASB9_ENST00000380485.3_Nonsense_Mutation_p.E188*|ASB9_ENST00000546332.1_Nonsense_Mutation_p.E188*|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	188					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TTACCTGACTCCAGAAGCTTC	0.393																																						uc004cwl.2		NA																	0					0						c.(562-564)GAG>TAG		ankyrin repeat and SOCS box-containing 9 isoform							78.0	77.0	77.0					X																	15268558		2203	4300	6503	SO:0001587	stop_gained	140462				intracellular signal transduction			g.chrX:15268558C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.562G>T	X.37:g.15268558C>A	ENSP00000369855:p.Glu188*					ASB9_uc004cwk.2_Nonsense_Mutation_p.E188*|ASB9_uc004cwm.2_Nonsense_Mutation_p.E178*|ASB9_uc010ner.2_Nonsense_Mutation_p.E188*|ASB9_uc004cwn.2_Nonsense_Mutation_p.E159*	p.E188*	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			5	809	-	Hepatocellular(33;0.183)		188			ANK 5.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Nonsense_Mutation	SNP	ENST00000380488.4	37	c.562G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428398	0.96131	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	.	.	.	5.79	4.91	0.64330	.	0.105878	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-16.9092	14.8289	0.70132	0.0:0.8595:0.1405:0.0	.	.	.	.	X	178;188;188;188	.	ENSP00000369850:E178X	E	-	1	0	ASB9	15178479	0.996000	0.38824	0.981000	0.43875	0.877000	0.50540	1.513000	0.35823	1.174000	0.42811	0.529000	0.55759	GAG		0.393	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			37	56	1	0	4.14e-20	4.93e-20	37	56				
SLC7A3	84889	broad.mit.edu	37	X	70149727	70149728	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:70149727_70149728CC>TA	ENST00000374299.3	-	2	264_265	c.120_121GG>TA	c.(118-123)ctGGgt>ctTAgt	p.G41S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.G41S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	41					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCACACCCAGGGCCACTA	0.559																																						uc004dyn.2		NA																	0				ovary(1)|kidney(1)	2						c.(118-123)CTGGGT>CTTAGT		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)																																			SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70149727_70149728CC>TA	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.120_121delinsTA	X.37:g.70149727_70149728delinsTA	ENSP00000363417:p.Gly41Ser					SLC7A3_uc004dyo.2_Missense_Mutation_p.G41S	p.G41S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			2	278_279	-	Renal(35;0.156)		41			Helical; Name=1; (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	DNP	ENST00000374299.3	37	c.120_121GG>TA	CCDS14404.1																																																																																				0.559	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		7	28	0	0	0	0	7	28				
STAG2	10735	broad.mit.edu	37	X	123164834	123164834	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:123164834C>T	ENST00000371160.1	+	5	437	c.147C>T	c.(145-147)ggC>ggT	p.G49G	STAG2_ENST00000371157.3_Silent_p.G49G|STAG2_ENST00000371144.3_Silent_p.G49G|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.G49G|STAG2_ENST00000371145.3_Silent_p.G49G	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	49					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAAAAAGGGCCCAGCAGAAA	0.418																																						uc004etz.3		NA																	0				ovary(4)|skin(1)	5						c.(145-147)GGC>GGT		stromal antigen 2 isoform b							108.0	92.0	97.0					X																	123164834		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123164834C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.147C>T	X.37:g.123164834C>T						STAG2_uc004eua.2_Silent_p.G49G|STAG2_uc004eub.2_Silent_p.G49G|STAG2_uc004euc.2_Silent_p.G49G|STAG2_uc004eud.2_Silent_p.G49G|STAG2_uc004eue.2_Silent_p.G49G	p.G49G	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			4	486	+			49					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.147C>T	CCDS14607.1																																																																																				0.418	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		76	31	0	0	0	0	76	31				
IRAK1	3654	broad.mit.edu	37	X	153278545	153278545	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:153278545C>T	ENST00000369980.3	-	12	2046	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393682.1_Missense_Mutation_p.G608R|IRAK1_ENST00000393687.2_Missense_Mutation_p.G597R|IRAK1_ENST00000429936.2_Missense_Mutation_p.G623R|IRAK1_ENST00000369974.2_Missense_Mutation_p.G548R	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	627					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGATTCTCCTGCCGTGTCC	0.687																																						uc004fjs.1		NA																	0				lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(1879-1881)GGA>AGA		interleukin-1 receptor-associated kinase 1							15.0	16.0	15.0					X																	153278545		2189	4247	6436	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153278545C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1879G>A	X.37:g.153278545C>T	ENSP00000358997:p.Gly627Arg					IRAK1_uc004fjr.1_Missense_Mutation_p.G597R|IRAK1_uc004fjt.1_Missense_Mutation_p.G548R|IRAK1_uc010nur.2_Intron	p.G627R	NM_001569	NP_001560	P51617	IRAK1_HUMAN			12	1958	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		627					D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1879G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.043|6.043	0.376286|0.376286	0.11466|0.11466	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000444254;ENST00000443220	T;T;T;T;T|.	0.20738|.	2.05;2.05;2.05;2.05;2.05|.	5.02|5.02	-0.257|-0.257	0.12979|0.12979	.|.	1.921520|.	0.02915|.	N|.	0.137245|.	T|T	0.09247|0.09247	0.0228|0.0228	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.001;0.004;0.003|.	B;B;B|.	0.11329|.	0.003;0.003;0.006|.	T|T	0.27157|0.27157	-1.0082|-1.0082	10|5	0.15066|.	T|.	0.55|.	3.344|3.344	0.7731|0.7731	0.01028|0.01028	0.1503:0.2628:0.2178:0.3691|0.1503:0.2628:0.2178:0.3691	.|.	548;627;597|.	P51617-4;P51617;P51617-2|.	.;IRAK1_HUMAN;.|.	R|K	627;548;608;597;623|182;375	ENSP00000358997:G627R;ENSP00000358991:G548R;ENSP00000377287:G608R;ENSP00000377291:G597R;ENSP00000392662:G623R|.	ENSP00000358991:G548R|.	G|R	-|-	1|2	0|0	IRAK1|IRAK1	152931739|152931739	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.041000|0.041000	0.13682|0.13682	-1.092000|-1.092000	0.03366|0.03366	0.101000|0.101000	0.17610|0.17610	0.600000|0.600000	0.82982|0.82982	GGA|AGG		0.687	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			16	15	0	0	0	0	16	15				
KIAA1549L	25758	broad.mit.edu	37	11	33565011	33565017	+	Frame_Shift_Del	DEL	CACCCAG	CACCCAG	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:33565011_33565017delCACCCAG	ENST00000321505.4	+	1	1191_1197	c.1011_1017delCACCCAG	c.(1009-1017)gccacccagfs	p.ATQ337fs	KIAA1549L_ENST00000265654.5_Frame_Shift_Del_p.ATQ337fs|KIAA1549L_ENST00000389726.3_Frame_Shift_Del_p.ATQ337fs			Q6ZVL6	K154L_HUMAN	KIAA1549-like	337						integral component of membrane (GO:0016021)											CCATACAAGCCACCCAGACTGTTTTCC	0.517											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mup.3		NA																	0				ovary(2)	2						c.(1009-1017)GCCACCCAGfs		hypothetical protein LOC25758																																				SO:0001589	frameshift_variant	25758					integral to membrane		g.chr11:33565011_33565017delCACCCAG	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1011_1017delCACCCAG	11.37:g.33565011_33565017delCACCCAG	ENSP00000315295:p.Ala337fs		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	C11orf41_uc001mun.1_Frame_Shift_Del_p.A337fs	p.A337fs	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	1135_1141	+			337_339					B0QYU0	Frame_Shift_Del	DEL	ENST00000321505.4	37	c.1011_1017delCACCCAG	CCDS44565.2																																																																																				0.517	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		38	307	NA	NA	NA	NA	38	307	---	---	---	---
STK16	8576	broad.mit.edu	37	2	220113249	220113250	+	In_Frame_Ins	INS	-	-	CAG			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:220113249_220113250insCAG	ENST00000409638.3	+	8	1058_1059	c.886_887insCAG	c.(886-888)cca>cCAGca	p.297_298insA	TUBA4A_ENST00000498660.1_5'Flank|STK16_ENST00000409516.3_In_Frame_Ins_p.179_180insA|STK16_ENST00000409260.1_In_Frame_Ins_p.342_343insA|STK16_ENST00000396738.2_In_Frame_Ins_p.297_298insA|STK16_ENST00000409743.1_In_Frame_Ins_p.265_266insA	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	297					cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTCAGCCCCCAGCTCCTGGC	0.55																																					Pancreas(34;887 922 17165 36961 39622)	uc002vko.2		NA																	0				skin(1)	1						c.(886-888)CCA>CCAGCA		serine/threonine kinase 16																																				SO:0001652	inframe_insertion	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220113249_220113250insCAG	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.887_889dupCAG	2.37:g.220113250_220113252dupCAG	ENSP00000386928:p.Ala297_Ala297dup					STK16_uc002vks.2_In_Frame_Ins_p.179_180insA|STK16_uc002vkp.2_In_Frame_Ins_p.297_298insA|STK16_uc002vkr.2_In_Frame_Ins_p.230_231insA|STK16_uc002vkq.2_In_Frame_Ins_p.342_343insA	p.297_298insA	NM_001008910	NP_001008910	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1043_1044	+		Renal(207;0.0474)	297_298					A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	In_Frame_Ins	INS	ENST00000409638.3	37	c.886_887insCAG	CCDS42822.1																																																																																				0.550	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			22	162	NA	NA	NA	NA	22	162	---	---	---	---
POLR3H	171568	broad.mit.edu	37	22	41928719	41928719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr22:41928719delA	ENST00000355209.4	-	3	582	c.239delT	c.(238-240)ttcfs	p.F80fs	POLR3H_ENST00000407461.1_Frame_Shift_Del_p.F80fs|POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.F80fs|POLR3H_ENST00000420561.1_5'UTR	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	80					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CTCATCTAGGAATGGATGAAA	0.547											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003baf.2		NA																	0				skin(1)	1						c.(238-240)TTCfs		polymerase (RNA) III (DNA directed) polypeptide							139.0	120.0	127.0					22																	41928719		2203	4300	6503	SO:0001589	frameshift_variant	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41928719delA	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.239delT	22.37:g.41928719delA	ENSP00000347345:p.Phe80fs		OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Frame_Shift_Del_p.F80fs|POLR3H_uc003bai.2_Intron	p.F80fs	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN			4	299	-			80					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Frame_Shift_Del	DEL	ENST00000355209.4	37	c.239delT	CCDS14018.1																																																																																				0.547	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		29	73	NA	NA	NA	NA	29	73	---	---	---	---
TREX1	11277	broad.mit.edu	37	3	48507992	48507993	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:48507992_48507993delCT	ENST00000422277.2	+	1	764_765	c.103_104delCT	c.(103-105)ctgfs	p.L35fs	TREX1_ENST00000436480.2_Intron|TREX1_ENST00000456089.1_Intron|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000492235.1_Intron|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000296443.9_Intron|TREX1_ENST00000444177.1_Intron	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	35					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GATCTTAACACTGGGCACTCAC	0.658																																						uc003ctj.2		NA																	0					0						c.(103-105)CTGfs	Direct_reversal_of_damage|Editing_and_processing_nucleases	three prime repair exonuclease 1 isoform b																																				SO:0001589	frameshift_variant	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48507992_48507993delCT	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.103_104delCT	3.37:g.48507992_48507993delCT	ENSP00000390478:p.Leu35fs					TREX1_uc010hjy.2_Intron|TREX1_uc003ctk.2_Intron|TREX1_uc010hjz.2_Intron|TREX1_uc010hka.2_Frame_Shift_Del_p.L35fs	p.L35fs	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	1360_1361	+			35					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Frame_Shift_Del	DEL	ENST00000422277.2	37	c.103_104delCT	CCDS43086.1																																																																																				0.658	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		101	153	NA	NA	NA	NA	101	153	---	---	---	---
CEP57L1	285753	broad.mit.edu	37	6	109484156	109484158	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:109484156_109484158delATC	ENST00000517392.1	+	11	1792_1794	c.1366_1368delATC	c.(1366-1368)atcdel	p.I456del	CEP57L1_ENST00000336977.4_In_Frame_Del_p.I356del|CEP57L1_ENST00000520883.1_In_Frame_Del_p.I356del|CEP57L1_ENST00000368970.2_In_Frame_Del_p.I473del|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000359793.3_In_Frame_Del_p.I456del|CEP57L1_ENST00000523787.1_In_Frame_Del_p.I459del|C6orf183_ENST00000417143.3_RNA|CEP57L1_ENST00000521522.1_In_Frame_Del_p.I403del|CEP57L1_ENST00000407272.1_In_Frame_Del_p.I456del	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	456					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAGAGATGATATCATGTGGGAAC	0.335																																						uc010kdk.2		NA																	0					0						c.(1366-1368)ATCdel		hypothetical protein LOC285753																																				SO:0001651	inframe_deletion	285753					microtubule|microtubule organizing center		g.chr6:109484156_109484158delATC	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1366_1368delATC	6.37:g.109484156_109484158delATC	ENSP00000427844:p.Ile456del					C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_In_Frame_Del_p.I456del|C6orf182_uc003psy.3_In_Frame_Del_p.I456del	p.I456del	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	13	1943_1945	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	456					G5E992	In_Frame_Del	DEL	ENST00000517392.1	37	c.1366_1368delATC	CCDS5071.1																																																																																				0.335	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		20	58	NA	NA	NA	NA	20	58	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44715617	44715617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:44715617delA	ENST00000222673.5	+	9	1117	c.1075delA	c.(1075-1077)aatfs	p.N359fs	OGDH_ENST00000444676.1_Frame_Shift_Del_p.N374fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.N310fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.N370fs|OGDH_ENST00000439616.2_Frame_Shift_Del_p.N209fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.N359fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.N355fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	359					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCGCAGGATCAATCGTGTCAC	0.562																																						uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1075-1077)AATfs		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						127.0	110.0	116.0					7																	44715617		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44715617delA	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1075delA	7.37:g.44715617delA	ENSP00000222673:p.Asn359fs					OGDH_uc003tlm.2_Frame_Shift_Del_p.N359fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.N355fs|OGDH_uc011kby.1_Frame_Shift_Del_p.N209fs|OGDH_uc003tlp.2_Frame_Shift_Del_p.N370fs|OGDH_uc011kbz.1_Frame_Shift_Del_p.N154fs|OGDH_uc003tlo.1_Frame_Shift_Del_p.N192fs	p.N359fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN			9	1184	+			359					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.1075delA	CCDS34627.1																																																																																				0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			78	216	NA	NA	NA	NA	78	216	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139411734	139411740	+	Frame_Shift_Del	DEL	CTCGCAC	CTCGCAC	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:139411734_139411740delCTCGCAC	ENST00000277541.6	-	9	1614_1620	c.1539_1545delGTGCGAG	c.(1537-1545)cagtgcgagfs	p.QCE513fs	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	513	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGTGGGGCACTCGCACTGGAACTCAT	0.691			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1537-1545)CAGTGCGAGfs		notch1 preproprotein																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139411734_139411740delCTCGCAC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1539_1545delGTGCGAG	9.37:g.139411734_139411740delCTCGCAC	ENSP00000277541:p.Gln513fs	HNSCC(8;0.001)					p.Q513fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	9	1539_1545	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	513_515			Extracellular (Potential).|EGF-like 13; calcium-binding (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.1539_1545delGTGCGAG	CCDS43905.1																																																																																				0.691	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		12	12	NA	NA	NA	NA	12	12	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(3190-3192)AAAfs		guanylate cyclase 2F precursor							171.0	156.0	161.0					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs					GUCY2F_uc011msq.1_RNA	p.K1064fs	NM_001522	NP_001513	P51841	GUC2F_HUMAN			18	3468	-			1064			Cytoplasmic (Potential).		Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		7	359	NA	NA	NA	NA	7	359	---	---	---	---
