#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GJB4	127534	broad.mit.edu	37	1	35226994	35226994	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:35226994G>A	ENST00000339480.1	+	2	509	c.139G>A	c.(139-141)Gag>Aag	p.E47K	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	47					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGGGACGATGAGCAGAAGGA	0.592																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(139-141)Gag>Aag		gap junction protein, beta 4, 30.3kDa							255.0	172.0	200.0					1																	35226994		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35226994G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.139G>A	1.37:g.35226994G>A	ENSP00000345868:p.Glu47Lys						p.E47K	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	509	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	47					B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.139G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	36	5.818738	0.96982	.	.	ENSG00000189433	ENST00000339480	D	0.99515	-6.06	5.56	5.56	0.83823	Connexin, N-terminal (2);	0.123559	0.52532	D	0.000067	D	0.99722	0.9892	H	0.96015	3.755	0.48511	D	0.999661	D	0.89917	1.0	D	0.81914	0.995	D	0.97459	1.0033	10	0.87932	D	0	.	19.1455	0.93463	0.0:0.0:1.0:0.0	.	47	Q9NTQ9	CXB4_HUMAN	K	47	ENSP00000345868:E47K	ENSP00000345868:E47K	E	+	1	0	GJB4	34999581	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.807000	0.99171	2.640000	0.89533	0.655000	0.94253	GAG		0.592	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		15	22	0	0	0	1	0	15	22				
ANKRD11	29123	broad.mit.edu	37	16	89357518	89357518	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:89357518C>A	ENST00000301030.4	-	5	760	c.300G>T	c.(298-300)atG>atT	p.M100I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.M100I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	100					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)		CAGACAGCCCCATGCCAAACA	0.652																																						ENST00000301030.4																			0				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						c.(298-300)atG>atT		ankyrin repeat domain 11							53.0	64.0	60.0					16																	89357518		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89357518C>A	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.300G>T	16.37:g.89357518C>A	ENSP00000301030:p.Met100Ile					ANKRD11_ENST00000378330.2_Missense_Mutation_p.M100I	p.M100I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	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)	5	760	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	100					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.300G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448213	0.63178	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.54479	0.57;0.57	5.74	5.74	0.90152	.	0.137858	0.64402	D	0.000004	T	0.37237	0.0996	N	0.12182	0.205	0.80722	D	1	B;B;B	0.18968	0.011;0.0;0.032	B;B;B	0.20767	0.011;0.0;0.031	T	0.15009	-1.0452	10	0.39692	T	0.17	.	15.4061	0.74881	0.0:0.8615:0.1385:0.0	.	100;114;100	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	I	100;100;114	ENSP00000301030:M100I;ENSP00000367581:M100I	ENSP00000301030:M100I	M	-	3	0	ANKRD11	87885019	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.819000	0.69243	2.702000	0.92279	0.655000	0.94253	ATG		0.652	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		30	89	1	0	1.13719e-10	1	1.24116e-10	30	89				
ELAVL3	1995	broad.mit.edu	37	19	11577635	11577635	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:11577635A>G	ENST00000359227.3	-	2	441	c.17T>C	c.(16-18)cTg>cCg	p.L6P	CTC-398G3.6_ENST00000585656.1_Missense_Mutation_p.L160P|ELAVL3_ENST00000438662.2_Missense_Mutation_p.L6P|RN7SL669P_ENST00000581926.1_RNA	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	6					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CATGGCCCCCAGTATCTGCTG	0.647																																						ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(16-18)cTg>cCg		ELAV like neuron-specific RNA binding protein 3							24.0	24.0	24.0					19																	11577635		2197	4276	6473	SO:0001583	missense	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11577635A>G		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.17T>C	19.37:g.11577635A>G	ENSP00000352162:p.Leu6Pro					ELAVL3_ENST00000438662.2_Missense_Mutation_p.L6P|CTC-398G3.6_ENST00000585656.1_Missense_Mutation_p.L160P	p.L6P	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN			2	441	-			6					Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	c.17T>C	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552462	0.65311	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.08984	3.03;3.03	4.55	4.55	0.56014	.	0.061102	0.64402	D	0.000007	T	0.08268	0.0206	N	0.08118	0	0.80722	D	1	B;P	0.49559	0.192;0.925	B;P	0.51701	0.085;0.677	T	0.44636	-0.9315	10	0.39692	T	0.17	.	13.0098	0.58725	1.0:0.0:0.0:0.0	.	6;6	Q14576;Q14576-2	ELAV3_HUMAN;.	P	6	ENSP00000352162:L6P;ENSP00000390878:L6P	ENSP00000352162:L6P	L	-	2	0	ELAVL3	11438635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.919000	0.92770	1.929000	0.55896	0.448000	0.29417	CTG		0.647	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		3	20	0	0	0	1	0	3	20				
FAM204A	63877	broad.mit.edu	37	10	120095149	120095149	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:120095149A>T	ENST00000369183.4	-	4	498	c.239T>A	c.(238-240)tTt>tAt	p.F80Y	FAM204A_ENST00000369172.4_Missense_Mutation_p.F80Y|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	80								p.F80C(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						CAATTCTTGAAATTTCTATGT	0.279																																						ENST00000369183.4																			1	Substitution - Missense(1)	p.F80C(1)	large_intestine(1)	kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						c.(238-240)tTt>tAt		family with sequence similarity 204, member A							52.0	50.0	51.0					10																	120095149		2201	4299	6500	SO:0001583	missense	63877							g.chr10:120095149A>T	AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.239T>A	10.37:g.120095149A>T	ENSP00000358183:p.Phe80Tyr					FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.F80Y	p.F80Y	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN			4	498	-			80					D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	ENST00000369183.4	37	c.239T>A	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158425	0.78114	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.79475	2.455	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.81858	-0.0739	9	0.87932	D	0	-14.2751	14.3454	0.66658	1.0:0.0:0.0:0.0	.	80	Q9H8W3	F204A_HUMAN	Y	80	.	ENSP00000358168:F80Y	F	-	2	0	FAM204A	120085139	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.082000	0.64450	2.371000	0.80710	0.533000	0.62120	TTT		0.279	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063		4	22	0	0	0	1	0	4	22				
B3GAT1	27087	broad.mit.edu	37	11	134253736	134253736	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:134253736C>G	ENST00000524765.1	-	3	5003	c.459G>C	c.(457-459)aaG>aaC	p.K153N	B3GAT1_ENST00000392580.1_Missense_Mutation_p.K153N|B3GAT1_ENST00000312527.4_Missense_Mutation_p.K153N|B3GAT1_ENST00000537389.1_Missense_Mutation_p.K166N|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	153					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTCCGCGCAGCTTGTAGTTGC	0.731																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(457-459)aaG>aaC		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							29.0	27.0	28.0					11																	134253736		2178	4239	6417	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253736C>G	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.459G>C	11.37:g.134253736C>G	ENSP00000433847:p.Lys153Asn					B3GAT1_ENST00000392580.1_Missense_Mutation_p.K153N|B3GAT1_ENST00000312527.4_Missense_Mutation_p.K153N|B3GAT1_ENST00000537389.1_Missense_Mutation_p.K166N	p.K153N			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	5003	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	153					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.459G>C	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607241	0.87157	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.39	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.77313	2.365	0.80722	D	1	P;D	0.63046	0.734;0.992	B;D	0.65323	0.328;0.934	T	0.78555	-0.2159	10	0.54805	T	0.06	-38.7917	9.5725	0.39436	0.0:0.7203:0.0:0.2797	.	166;153	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	N	153;153;153;166	ENSP00000376359:K153N;ENSP00000307875:K153N;ENSP00000433847:K153N;ENSP00000445983:K166N	ENSP00000307875:K153N	K	-	3	2	B3GAT1	133758946	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.908000	0.28545	1.280000	0.44463	0.561000	0.74099	AAG		0.731	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		5	7	0	0	0	1	0	5	7				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			6	65	0	0	0	1	0	6	65				
PDZRN3	23024	broad.mit.edu	37	3	73434064	73434064	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:73434064G>A	ENST00000263666.4	-	10	1767	c.1653C>T	c.(1651-1653)gaC>gaT	p.D551D	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.D273D|PDZRN3_ENST00000479530.1_Silent_p.D268D|PDZRN3_ENST00000466780.1_Silent_p.D208D|PDZRN3_ENST00000462146.2_Silent_p.D208D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	551					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGTCCCACCGTCTTCGTCGT	0.567																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1651-1653)gaC>gaT		PDZ domain containing ring finger 3							79.0	70.0	73.0					3																	73434064		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73434064G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1653C>T	3.37:g.73434064G>A						PDZRN3_ENST00000466780.1_Silent_p.D208D|PDZRN3_ENST00000462146.2_Silent_p.D208D|PDZRN3_ENST00000535920.1_Silent_p.D273D|PDZRN3_ENST00000479530.1_Silent_p.D268D	p.D551D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	1767	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	551					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1653C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.594232	0.00857	.	.	ENSG00000121440	ENST00000494559	.	.	.	4.77	-4.79	0.03200	.	.	.	.	.	T	0.63200	0.2491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63125	-0.6707	4	.	.	.	.	14.9193	0.70822	0.7576:0.0:0.2424:0.0	.	.	.	.	M	148	.	.	T	-	2	0	PDZRN3	73516754	0.747000	0.28283	0.587000	0.28692	0.162000	0.22319	-0.087000	0.11215	-1.081000	0.03105	-0.812000	0.03155	ACG		0.567	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		9	43	0	0	0	1	0	9	43				
CD163L1	283316	broad.mit.edu	37	12	7510047	7510047	+	Missense_Mutation	SNP	C	C	T	rs558582662		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:7510047C>T	ENST00000313599.3	-	19	4372	c.4315G>A	c.(4315-4317)Gac>Aac	p.D1439N	CD163L1_ENST00000416109.2_Missense_Mutation_p.D1449N|CD163L1_ENST00000396630.1_Missense_Mutation_p.D1407N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1439						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D1439N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCGATGTGTCGCTAGCATCT	0.443																																						ENST00000313599.3																			1	Substitution - Missense(1)	p.D1439N(1)	skin(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4315-4317)Gac>Aac		CD163 molecule-like 1							96.0	91.0	93.0					12																	7510047		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7510047C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4315G>A	12.37:g.7510047C>T	ENSP00000315945:p.Asp1439Asn					CD163L1_ENST00000396630.1_Missense_Mutation_p.D1407N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1449N	p.D1439N			Q9NR16	C163B_HUMAN			19	4372	-			1439					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.4315G>A	CCDS8577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.686|0.686	-0.796183|-0.796183	0.02862|0.02862	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.02525|.	4.89;4.89;4.26|.	0.922|0.922	-1.62|-1.62	0.08372|0.08372	.|.	.|.	.|.	.|.	.|.	T|T	0.13457|0.13457	0.0326|0.0326	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.24368|.	0.102;0.102|.	B;B|.	0.12837|.	0.008;0.008|.	T|T	0.22695|0.22695	-1.0209|-1.0209	9|5	0.72032|.	D|.	0.01|.	.|.	2.5449|2.5449	0.04735|0.04735	0.2531:0.3264:0.4205:0.0|0.2531:0.3264:0.4205:0.0	.|.	1449;1439|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	N|Q	1439;1449;1407|94	ENSP00000315945:D1439N;ENSP00000393474:D1449N;ENSP00000379871:D1407N|.	ENSP00000315945:D1439N|.	D|R	-|-	1|2	0|0	CD163L1|CD163L1	7401314|7401314	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.098000|-0.098000	0.11024|0.11024	-0.575000|-0.575000	0.05982|0.05982	-1.289000|-1.289000	0.01358|0.01358	GAC|CGA		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		3	48	0	0	0	1	0	3	48				
FRYL	285527	broad.mit.edu	37	4	48542418	48542418	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:48542418G>C	ENST00000503238.1	-	43	6246	c.6247C>G	c.(6247-6249)Ctc>Gtc	p.L2083V	FRYL_ENST00000537810.1_Missense_Mutation_p.L2083V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.L2083V|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2083					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAGAAATGAGTTTACTGAGG	0.393																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6247-6249)Ctc>Gtc		FRY-like							75.0	69.0	71.0					4																	48542418		1893	4112	6005	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48542418G>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6247C>G	4.37:g.48542418G>C	ENSP00000426064:p.Leu2083Val					FRYL_ENST00000503238.1_Missense_Mutation_p.L2083V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L2083V|FRYL_ENST00000507873.2_5'UTR	p.L2083V	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			46	6851	-			2083					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.6247C>G	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.949453|3.949453	0.73787|0.73787	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.40225|.	1.04;1.04;1.04|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77665|0.77665	0.4164|0.4164	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.91635|.	0.994;0.999;0.999|.	T|T	0.73933|0.73933	-0.3826|-0.3826	10|5	0.49607|.	T|.	0.09|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	913;2083;2083|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	V|S	2083|952	ENSP00000426064:L2083V;ENSP00000351113:L2083V;ENSP00000441114:L2083V|.	ENSP00000351113:L2083V|.	L|T	-|-	1|2	0|0	FRYL|FRYL	48237175|48237175	1.000000|1.000000	0.71417|0.71417	0.879000|0.879000	0.34478|0.34478	0.656000|0.656000	0.38851|0.38851	9.835000|9.835000	0.99442|0.99442	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTC|ACT		0.393	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			33	65	0	0	0	1	0	33	65				
PLCE1	51196	broad.mit.edu	37	10	95791949	95791949	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:95791949G>A	ENST00000371380.3	+	1	1381	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	PLCE1_ENST00000260766.3_Silent_p.P382P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	382					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAACCCCCGTCAACAGTGG	0.468																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8	GRCh37	CD066390	PLCE1	D		c.(1144-1146)ccG>ccA		phospholipase C, epsilon 1							87.0	87.0	87.0					10																	95791949		1911	4131	6042	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791949G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1146G>A	10.37:g.95791949G>A						PLCE1_ENST00000371380.2_Silent_p.P382P	p.P382P	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1780	+		Colorectal(252;0.0458)	382					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.1146G>A	CCDS41552.1																																																																																				0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		26	47	0	0	0	1	0	26	47				
HSD3B2	3284	broad.mit.edu	37	1	119958097	119958097	+	Missense_Mutation	SNP	G	G	A	rs143169543		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:119958097G>A	ENST00000543831.1	+	2	304	c.55G>A	c.(55-57)Gtc>Atc	p.V19I	HSD3B2_ENST00000369416.3_Missense_Mutation_p.V19I|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	19					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TCAGAGGATCGTCCGCCTGTT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18618	0.0		0.001	False		,,,				2504	0.0					ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(55-57)Gtc>Atc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	97.0	95.0	96.0		55,55	-1.2	0.3	1	dbSNP_134	96	2,8598		0,2,4298	no	missense,missense	HSD3B2	NM_000198.3,NM_001166120.1	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	19/373,19/373	119958097	2,13004	2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119958097G>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.55G>A	1.37:g.119958097G>A	ENSP00000445122:p.Val19Ile					HSD3B2_ENST00000369416.3_Missense_Mutation_p.V19I|HSD3B2_ENST00000471656.1_3'UTR	p.V19I	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	2	304	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	19					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.55G>A	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	9.775	1.173745	0.21704	0.0	2.33E-4	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.85339	-1.97;-1.97;-1.97	3.6	-1.23	0.09465	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.311519	0.27927	N	0.017294	T	0.56877	0.2015	L	0.39085	1.19	0.26854	N	0.968095	B;B	0.33477	0.249;0.413	B;B	0.33568	0.089;0.166	T	0.54043	-0.8352	9	.	.	.	-5.5781	6.9104	0.24333	0.4984:0.0:0.5016:0.0	.	19;19	P26439-2;P26439	.;3BHS2_HUMAN	I	19	ENSP00000445122:V19I;ENSP00000388292:V19I;ENSP00000358424:V19I	.	V	+	1	0	HSD3B2	119759620	0.103000	0.21917	0.302000	0.25058	0.703000	0.40648	-0.071000	0.11505	-0.315000	0.08703	0.454000	0.30748	GTC		0.517	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		5	75	0	0	0	1	0	5	75				
B3GALT5	10317	broad.mit.edu	37	21	41033131	41033131	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr21:41033131C>T	ENST00000380620.4	+	5	1237	c.645C>T	c.(643-645)tcC>tcT	p.S215S	B3GALT5_ENST00000398714.2_Silent_p.S215S|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.S215S|B3GALT5_ENST00000343118.4_Silent_p.S215S			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	215					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CATTCTGCTCCGGCACCGGCT	0.507																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(643-645)tcC>tcT		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							74.0	74.0	74.0					21																	41033131		2203	4300	6503	SO:0001819	synonymous_variant	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033131C>T	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.645C>T	21.37:g.41033131C>T						B3GALT5_ENST00000398714.2_Silent_p.S215S|B3GALT5_ENST00000343118.4_Silent_p.S215S|B3GALT5_ENST00000380618.1_Silent_p.S215S|AF064860.5_ENST00000416555.1_RNA	p.S215S			Q9Y2C3	B3GT5_HUMAN			5	1237	+		Prostate(19;2.55e-06)	215					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	c.645C>T	CCDS13667.1																																																																																				0.507	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		45	42	0	0	0	1	0	45	42				
COL28A1	340267	broad.mit.edu	37	7	7420445	7420445	+	Missense_Mutation	SNP	C	C	T	rs561741584		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:7420445C>T	ENST00000399429.3	-	29	2394	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	752	Collagen-like 6.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTCCAATTTCTCCTTTATCA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19738	0.001		0.0	False		,,,				2504	0.0					ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2254-2256)Gaa>Aaa		collagen, type XXVIII, alpha 1							235.0	235.0	235.0					7																	7420445		1860	4092	5952	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7420445C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2254G>A	7.37:g.7420445C>T	ENSP00000382356:p.Glu752Lys						p.E752K	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	29	2394	-		Ovarian(82;0.0789)	752			Collagen-like 6.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2254G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841963	0.71488	.	.	ENSG00000215018	ENST00000399429	D	0.94184	-3.37	4.78	4.78	0.61160	.	0.379447	0.22584	U	0.058162	D	0.91845	0.7419	M	0.62266	1.93	0.58432	D	0.999997	B	0.29862	0.259	B	0.34590	0.186	D	0.88546	0.3113	10	0.07813	T	0.8	-11.348	18.3914	0.90484	0.0:1.0:0.0:0.0	.	752	Q2UY09	COSA1_HUMAN	K	752	ENSP00000382356:E752K	ENSP00000382356:E752K	E	-	1	0	COL28A1	7386970	1.000000	0.71417	0.635000	0.29338	0.578000	0.36192	5.329000	0.65892	2.655000	0.90218	0.650000	0.86243	GAA		0.408	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		21	152	0	0	0	1	0	21	152				
CEP350	9857	broad.mit.edu	37	1	180063719	180063719	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:180063719G>C	ENST00000367607.3	+	34	8897	c.8479G>C	c.(8479-8481)Gag>Cag	p.E2827Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2827					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGAAAAAGAAGAGATTTCCTC	0.393																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(8479-8481)Gag>Cag		centrosomal protein 350kDa							73.0	76.0	75.0					1																	180063719		2203	4299	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180063719G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8479G>C	1.37:g.180063719G>C	ENSP00000356579:p.Glu2827Gln					CEP350_ENST00000490141.1_3'UTR	p.E2827Q	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	8897	+			2827					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.8479G>C	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.137414|4.137414	0.77775|0.77775	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.61859|.	0.07|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.47455|.	D|.	0.000223|.	T|T	0.75369|0.75369	0.3840|0.3840	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999993|0.999993	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.77557|.	0.977;0.99|.	T|T	0.74093|0.74093	-0.3776|-0.3776	9|5	.|.	.|.	.|.	.|.	17.795|17.795	0.88567|0.88567	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2827;2827|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|T	2827;291|1001	ENSP00000356579:E2827Q|.	.|.	E|R	+|+	1|2	0|0	CEP350|CEP350	178330342|178330342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.827000|8.827000	0.92041|0.92041	2.632000|2.632000	0.89209|0.89209	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		10	42	0	0	0	1	0	10	42				
ZFR2	23217	broad.mit.edu	37	19	3816705	3816705	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:3816705C>T	ENST00000262961.4	-	13	2080	c.2070G>A	c.(2068-2070)cgG>cgA	p.R690R		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	690	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGCGATCCTCCGCAGCAGGC	0.687																																						ENST00000262961.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(2068-2070)cgG>cgA		zinc finger RNA binding protein 2							23.0	29.0	27.0					19																	3816705		2147	4255	6402	SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3816705C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2070G>A	19.37:g.3816705C>T							p.R690R	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	13	2080	-			690						Silent	SNP	ENST00000262961.4	37	c.2070G>A	CCDS45921.1																																																																																				0.687	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		17	15	0	0	0	1	0	17	15				
MMP25	64386	broad.mit.edu	37	16	3100318	3100318	+	Silent	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:3100318T>C	ENST00000336577.4	+	4	669	c.432T>C	c.(430-432)taT>taC	p.Y144Y	RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	157					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TCATGAGCTATGCCCTGATGG	0.642																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(430-432)taT>taC		matrix metallopeptidase 25							62.0	53.0	56.0					16																	3100318		2197	4300	6497	SO:0001819	synonymous_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100318T>C	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.432T>C	16.37:g.3100318T>C						MMP25_ENST00000570755.1_3'UTR	p.Y144Y	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			4	669	+			144					Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	c.432T>C	CCDS10492.1																																																																																				0.642	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		18	53	0	0	0	1	0	18	53				
MSH3	4437	broad.mit.edu	37	5	80171626	80171626	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:80171626A>T	ENST00000265081.6	+	24	3439	c.3359A>T	c.(3358-3360)cAg>cTg	p.Q1120L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1120					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAAGACCTGCAGAAGTGGACA	0.328								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(3358-3360)cAg>cTg	Mismatch excision repair (MMR)	mutS homolog 3							79.0	81.0	80.0					5																	80171626		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80171626A>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3359A>T	5.37:g.80171626A>T	ENSP00000265081:p.Gln1120Leu						p.Q1120L	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	24	3439	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	1120					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.3359A>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.433468	0.25813	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86366	-2.11	5.82	0.794	0.18638	.	0.966683	0.08642	N	0.915406	T	0.76414	0.3984	N	0.24115	0.695	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.57940	-0.7724	9	.	.	.	-2.154	7.7093	0.28669	0.6305:0.0:0.3695:0.0	.	1120	P20585	MSH3_HUMAN	L	1120;1111	ENSP00000265081:Q1120L	.	Q	+	2	0	MSH3	80207382	0.002000	0.14202	0.061000	0.19648	0.480000	0.33159	0.390000	0.20768	-0.075000	0.12798	0.533000	0.62120	CAG		0.328	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		11	38	0	0	0	1	0	11	38				
AK9	221264	broad.mit.edu	37	6	109978085	109978085	+	Silent	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:109978085T>C	ENST00000424296.2	-	8	709	c.633A>G	c.(631-633)gcA>gcG	p.A211A	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Silent_p.A211A|AK9_ENST00000368948.2_Silent_p.A211A	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	211	Adenylate kinase 1.|Glu-rich.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CGGCAATAAATGCCTAAATGG	0.343																																						ENST00000424296.2																			0											c.(631-633)gcA>gcG		adenylate kinase 9							50.0	51.0	50.0					6																	109978085		2203	4300	6503	SO:0001819	synonymous_variant	221264							g.chr6:109978085T>C	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.633A>G	6.37:g.109978085T>C						AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Silent_p.A211A|AK9_ENST00000285397.5_Silent_p.A211A	p.A211A	NM_001145128.2	NP_001138600.2					8	709	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.633A>G	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	T	5.267	0.234631	0.09969	.	.	ENSG00000155085	ENST00000524674	.	.	.	4.89	-5.76	0.02376	.	.	.	.	.	T	0.22322	0.0538	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44283	-0.9338	4	.	.	.	-21.7154	3.1753	0.06566	0.1163:0.3793:0.1192:0.3852	.	.	.	.	R	99	.	.	H	-	2	0	AKD1	110084778	0.971000	0.33674	0.978000	0.43139	0.694000	0.40290	-0.006000	0.12833	-0.543000	0.06240	-0.912000	0.02778	CAT		0.343	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		4	26	0	0	0	1	0	4	26				
KIAA1377	57562	broad.mit.edu	37	11	101834137	101834137	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:101834137A>G	ENST00000263468.8	+	6	2641	c.2371A>G	c.(2371-2373)Aca>Gca	p.T791A	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T592A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	791										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAACATATTTACACAAGCTCA	0.373																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(2371-2373)Aca>Gca		KIAA1377							73.0	75.0	74.0					11																	101834137		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101834137A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2371A>G	11.37:g.101834137A>G	ENSP00000263468:p.Thr791Ala					KIAA1377_ENST00000537689.1_Missense_Mutation_p.T592A	p.T791A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2641	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	791					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.2371A>G	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.317324	0.01331	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.06068	3.35;3.35	5.63	-3.77	0.04346	.	0.775342	0.11832	N	0.525147	T	0.01695	0.0054	N	0.02539	-0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.44390	-0.9331	10	0.13108	T	0.6	0.012	2.65	0.04996	0.2306:0.3902:0.2542:0.125	.	791	Q9P2H0	K1377_HUMAN	A	791;592	ENSP00000263468:T791A;ENSP00000443184:T592A	ENSP00000263468:T791A	T	+	1	0	KIAA1377	101339347	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.115000	0.10741	-0.860000	0.04099	0.533000	0.62120	ACA		0.373	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		32	64	0	0	0	1	0	32	64				
CDC42BPB	9578	broad.mit.edu	37	14	103449974	103449974	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:103449974G>C	ENST00000361246.2	-	7	1098	c.810C>G	c.(808-810)tgC>tgG	p.C270W		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCTCATACATGCAGACACCCA	0.522																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(808-810)tgC>tgG		CDC42 binding protein kinase beta (DMPK-like)							122.0	113.0	116.0					14																	103449974		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103449974G>C	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.810C>G	14.37:g.103449974G>C	ENSP00000355237:p.Cys270Trp						p.C270W	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	7	1098	-		Melanoma(154;0.155)	270			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.810C>G	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784896	0.70222	.	.	ENSG00000198752	ENST00000361246	T	0.65178	-0.14	5.03	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75602	-0.3261	10	0.87932	D	0	.	13.7568	0.62942	0.0747:0.0:0.9252:0.0	.	270	Q9Y5S2	MRCKB_HUMAN	W	270	ENSP00000355237:C270W	ENSP00000355237:C270W	C	-	3	2	CDC42BPB	102519727	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.678000	0.68153	1.266000	0.44231	0.655000	0.94253	TGC		0.522	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		36	58	0	0	0	1	0	36	58				
CORIN	10699	broad.mit.edu	37	4	47597912	47597912	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:47597912G>A	ENST00000273857.4	-	22	2954	c.2955C>T	c.(2953-2955)agC>agT	p.S985S	CORIN_ENST00000502252.1_Silent_p.S918S|CORIN_ENST00000505909.1_Silent_p.S948S|CORIN_ENST00000508498.1_Silent_p.S846S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	985	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAGGCCCACCGCTGTCACCCT	0.502																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2953-2955)agC>agT		corin, serine peptidase							57.0	56.0	56.0					4																	47597912		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47597912G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2955C>T	4.37:g.47597912G>A						CORIN_ENST00000508498.1_Silent_p.S846S|CORIN_ENST00000505909.1_Silent_p.S948S|CORIN_ENST00000502252.1_Silent_p.S918S	p.S985S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			22	2954	-			985			Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.2955C>T	CCDS3477.1																																																																																				0.502	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			8	46	0	0	0	1	0	8	46				
ABCB1	5243	broad.mit.edu	37	7	87170747	87170747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:87170747G>A	ENST00000265724.3	-	19	2662	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.R685*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	749	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R749*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTATTCTGTCGTTTTGTTTCA	0.318																																						ENST00000265724.3																			1	Substitution - Nonsense(1)	p.R749*(1)	ovary(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2245-2247)Cga>Tga		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						105.0	107.0	107.0					7																	87170747		2203	4300	6503	SO:0001587	stop_gained	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87170747G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2245C>T	7.37:g.87170747G>A	ENSP00000265724:p.Arg749*					ABCB1_ENST00000543898.1_Nonsense_Mutation_p.R685*	p.R749*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			19	2662	-	Esophageal squamous(14;0.00164)		749			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	c.2245C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	38	7.084854	0.98051	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.65	2.22	0.28083	.	0.247117	0.37053	N	0.002279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5259	13.2116	0.59828	0.0:0.0:0.3273:0.6727	.	.	.	.	X	530;749;685	.	ENSP00000265724:R749X	R	-	1	2	ABCB1	87008683	0.040000	0.19996	0.211000	0.23655	0.066000	0.16364	0.910000	0.28571	0.762000	0.33152	0.655000	0.94253	CGA		0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		17	63	0	0	0	1	0	17	63				
BRCA2	675	broad.mit.edu	37	13	32912650	32912650	+	Silent	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr13:32912650T>C	ENST00000380152.3	+	11	4391	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	BRCA2_ENST00000544455.1_Silent_p.D1386D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1386	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTTGTCAGATTTAACTTTTT	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4156-4158)gaT>gaC	Homologous recombination	breast cancer 2, early onset							70.0	74.0	73.0					13																	32912650		2203	4298	6501	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912650T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4158T>C	13.37:g.32912650T>C		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.D1386D	p.D1386D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4385	+		Lung SC(185;0.0262)	1386					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.4158T>C	CCDS9344.1																																																																																				0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	27	0	0	0	1	0	26	27				
ZNF280B	140883	broad.mit.edu	37	22	22843668	22843668	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:22843668T>C	ENST00000406426.1	-	4	798	c.56A>G	c.(55-57)gAa>gGa	p.E19G	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E19G			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGTTTGGTTTCTTGTATGTT	0.398																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(55-57)gAa>gGa		zinc finger protein 280B							149.0	130.0	136.0					22																	22843668		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843668T>C	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.56A>G	22.37:g.22843668T>C	ENSP00000385998:p.Glu19Gly					ZNF280B_ENST00000406426.1_Missense_Mutation_p.E19G	p.E19G	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	831	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	19						Missense_Mutation	SNP	ENST00000406426.1	37	c.56A>G	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	T	3.721	-0.057633	0.07317	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.06608	3.28;3.28	3.97	1.82	0.25136	.	.	.	.	.	T	0.07234	0.0183	M	0.63843	1.955	0.18873	N	0.999985	B	0.06786	0.001	B	0.06405	0.002	T	0.35475	-0.9787	9	0.44086	T	0.13	-2.3931	3.2463	0.06798	0.2038:0.1107:0.0:0.6855	.	19	Q86YH2	Z280B_HUMAN	G	19	ENSP00000385998:E19G;ENSP00000353586:E19G	ENSP00000353586:E19G	E	-	2	0	ZNF280B	21173668	0.940000	0.31905	0.087000	0.20705	0.125000	0.20455	2.456000	0.44997	0.338000	0.23692	0.377000	0.23210	GAA		0.398	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		17	51	0	0	0	1	0	17	51				
MIR380	494329	broad.mit.edu	37	14	101488408	101488408	+	RNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:101488408T>C	ENST00000362112.2	-	0	111				MIR299_ENST00000385016.2_RNA|MIR379_ENST00000362218.3_RNA|MIR411_ENST00000362239.2_RNA	NR_029872.1				microRNA 380																		CCTGAAGAGATGGTAGACTAT	0.512																																						ENST00000362218.3																			0																				133.0	122.0	125.0					14																	101488408		1568	3582	5150			494328							g.chr14:101488408T>C			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101488408T>C								NR_029871.1						0	43	+									RNA	SNP	ENST00000362112.2	37																																																																																						0.512	MIR380-201	KNOWN	basic	miRNA	miRNA		NR_029872		4	44	0	0	0	1	0	4	44				
OFD1	8481	broad.mit.edu	37	X	13776517	13776517	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chrX:13776517T>C	ENST00000340096.6	+	15	1931	c.1604T>C	c.(1603-1605)tTa>tCa	p.L535S	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.L395S|OFD1_ENST00000380550.3_Missense_Mutation_p.L495S	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	535					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTAAAGAGTTTAACTACTCAG	0.353																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1183-1185)tTa>tCa		oral-facial-digital syndrome 1							56.0	56.0	56.0					X																	13776517		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13776517T>C	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1604T>C	X.37:g.13776517T>C	ENSP00000344314:p.Leu535Ser					OFD1_ENST00000340096.6_Missense_Mutation_p.L535S|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.L495S	p.L395S			O75665	OFD1_HUMAN			16	2056	+			535					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1184T>C	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.068949	0.55539	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.98419	-2.1;-4.92;-2.66	5.46	5.46	0.80206	.	0.241615	0.33496	N	0.004845	D	0.98717	0.9569	M	0.73598	2.24	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	0.79784	0.988;0.984;0.993;0.993;0.984	D	0.99793	1.1032	10	0.66056	D	0.02	-9.7945	14.7331	0.69397	0.0:0.0:0.0:1.0	.	535;495;203;395;535	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	S	495;535;395	ENSP00000369923:L495S;ENSP00000344314:L535S;ENSP00000369941:L395S	ENSP00000344314:L535S	L	+	2	0	OFD1	13686438	1.000000	0.71417	0.446000	0.26920	0.329000	0.28539	5.904000	0.69886	1.929000	0.55896	0.486000	0.48141	TTA		0.353	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		12	6	0	0	0	1	0	12	6				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977377	29977377	+	RNA	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:29977377C>G	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TTTGTGACTTCAAGAACCCTG	0.458																																						ENST00000376797.3																			0																																																			80862							g.chr6:29977377C>G	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977377C>G						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.458	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	34	0	0	0	1	0	3	34				
GPR126	57211	broad.mit.edu	37	6	142718802	142718802	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:142718802G>C	ENST00000230173.6	+	10	1953	c.1477G>C	c.(1477-1479)Gaa>Caa	p.E493Q	GPR126_ENST00000296932.8_Missense_Mutation_p.E465Q|GPR126_ENST00000367609.3_Missense_Mutation_p.E493Q|GPR126_ENST00000367608.2_Missense_Mutation_p.E465Q	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	493					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TACTAATTTGGAAGGAAAAAT	0.403																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1477-1479)Gaa>Caa		G protein-coupled receptor 126							79.0	77.0	77.0					6																	142718802		1822	4074	5896	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142718802G>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1477G>C	6.37:g.142718802G>C	ENSP00000230173:p.Glu493Gln					GPR126_ENST00000367609.3_Missense_Mutation_p.E493Q|GPR126_ENST00000296932.8_Missense_Mutation_p.E465Q|GPR126_ENST00000367608.2_Missense_Mutation_p.E465Q	p.E493Q	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	10	1953	+	Breast(32;0.176)		493					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.1477G>C	CCDS47490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.90|14.90	2.672897|2.672897	0.47781|0.47781	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609|ENST00000508295	T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66|.	5.65|5.65	4.78|4.78	0.61160|0.61160	.|.	0.165964|.	0.42682|.	D|.	0.000667|.	T|T	0.37517|0.37517	0.1006|0.1006	L|L	0.55481|0.55481	1.735|1.735	0.26894|0.26894	N|N	0.967263|0.967263	P;P;P;P|.	0.40875|.	0.731;0.731;0.731;0.611|.	B;B;B;B|.	0.42112|.	0.299;0.376;0.299;0.157|.	T|T	0.28713|0.28713	-1.0035|-1.0035	10|5	0.36615|.	T|.	0.2|.	.|.	13.9528|13.9528	0.64129|0.64129	0.0737:0.0:0.9262:0.0|0.0737:0.0:0.9262:0.0	.|.	465;493;465;493|.	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4|.	.;.;.;GP126_HUMAN|.	Q|C	493;465;465;493|67	ENSP00000230173:E493Q;ENSP00000356580:E465Q;ENSP00000296932:E465Q;ENSP00000356581:E493Q|.	ENSP00000230173:E493Q|.	E|W	+|+	1|3	0|0	GPR126|GPR126	142760495|142760495	1.000000|1.000000	0.71417|0.71417	0.796000|0.796000	0.32109|0.32109	0.151000|0.151000	0.21798|0.21798	4.718000|4.718000	0.61930|0.61930	1.504000|1.504000	0.48704|0.48704	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			7	40	0	0	0	1	0	7	40				
CACNA1S	779	broad.mit.edu	37	1	201008965	201008965	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:201008965C>T	ENST00000362061.3	-	44	5842	c.5616G>A	c.(5614-5616)agG>agA	p.R1872R	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.R1853R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1872					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCATCACAGCCTTGGAGGAA	0.637																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(5614-5616)agG>agA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69.0	65.0	66.0					1																	201008965		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201008965C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5616G>A	1.37:g.201008965C>T						CACNA1S_ENST00000367338.3_Silent_p.R1853R|RP11-168O16.2_ENST00000415359.1_RNA	p.R1872R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			44	5842	-			1872					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.5616G>A	CCDS1407.1																																																																																				0.637	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		29	52	0	0	0	1	0	29	52				
RPGRIP1L	23322	broad.mit.edu	37	16	53708963	53708963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:53708963G>T	ENST00000379925.3	-	7	898	c.848C>A	c.(847-849)tCa>tAa	p.S283*	RPGRIP1L_ENST00000262135.4_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.S283*	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	283					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCCATTGCTGAAAGAGCATT	0.323																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(847-849)tCa>tAa		RPGRIP1-like							154.0	137.0	143.0					16																	53708963		2197	4298	6495	SO:0001587	stop_gained	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53708963G>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.848C>A	16.37:g.53708963G>T	ENSP00000369257:p.Ser283*					RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.S283*	p.S283*	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			7	941	-		all_cancers(37;0.0973)	283					A0PJ88|Q9Y2K8	Nonsense_Mutation	SNP	ENST00000379925.3	37	c.848C>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231384	0.95207	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.98	5.98	0.97165	.	0.410282	0.25230	N	0.032161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0526	20.4366	0.99092	0.0:0.0:1.0:0.0	.	.	.	.	X	283	.	ENSP00000262135:S283X	S	-	2	0	RPGRIP1L	52266464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.634000	0.61325	2.843000	0.97960	0.585000	0.79938	TCA		0.323	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		13	17	1	0	0.00010058	1	0.000104977	13	17				
PDE3A	5139	broad.mit.edu	37	12	20792842	20792842	+	Silent	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:20792842A>G	ENST00000359062.3	+	10	2242	c.2202A>G	c.(2200-2202)gaA>gaG	p.E734E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	734	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CAATTAGGGAATTTATGAATT	0.308																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2200-2202)gaA>gaG		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						91.0	90.0	90.0					12																	20792842		2202	4300	6502	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20792842A>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2202A>G	12.37:g.20792842A>G						PDE3A_ENST00000544307.1_3'UTR	p.E734E	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			10	2242	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	734			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2202A>G	CCDS31754.1																																																																																				0.308	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			15	43	0	0	0	1	0	15	43				
EPG5	57724	broad.mit.edu	37	18	43438566	43438566	+	Silent	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:43438566G>T	ENST00000282041.5	-	41	7225	c.7191C>A	c.(7189-7191)ctC>ctA	p.L2397L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2397					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGCTTAAGATGAGCAGCACTT	0.438																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(7189-7191)ctC>ctA		ectopic P-granules autophagy protein 5 homolog (C. elegans)							65.0	60.0	62.0					18																	43438566		1931	4133	6064	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43438566G>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7191C>A	18.37:g.43438566G>T						EPG5_ENST00000585906.1_5'UTR	p.L2397L	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			41	7225	-			2397					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.7191C>A	CCDS11926.2																																																																																				0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		6	37	1	0	5.9392e-07	1	6.33736e-07	6	37				
PLPPR5	163404	broad.mit.edu	37	1	99422164	99422164	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:99422164C>G	ENST00000263177.4	-	2	592		c.e2+1		LPPR5_ENST00000370188.3_Splice_Site	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN								integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										tGAACACATACCAAGAAATCG	0.353																																						ENST00000370188.3																			0											c.e2+1									45.0	49.0	48.0					1																	99422164		2202	4297	6499	SO:0001630	splice_region_variant	163404					integral to membrane	hydrolase activity	g.chr1:99422164C>G																												ENST00000263177.4:c.370+1G>C	1.37:g.99422164C>G						LPPR5_ENST00000263177.4_Splice_Site		NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			2	731	-								A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Splice_Site	SNP	ENST00000263177.4	37		CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905974	0.72868	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0811	0.86599	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AL161744.1	99194752	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.234000	0.78134	2.342000	0.79632	0.591000	0.81541	.		0.353	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1		Intron	4	20	0	0	0	1	0	4	20				
OR52E2	119678	broad.mit.edu	37	11	5080197	5080197	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:5080197G>A	ENST00000321522.2	-	1	660	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAAAGAATATGCACATAAGAA	0.398																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(661-663)Cat>Tat		olfactory receptor, family 52, subfamily E, member 2							93.0	81.0	85.0					11																	5080197		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080197G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.661C>T	11.37:g.5080197G>A	ENSP00000322088:p.His221Tyr						p.H221Y	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	660	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	221						Missense_Mutation	SNP	ENST00000321522.2	37	c.661C>T	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.378768	0.00015	.	.	ENSG00000176787	ENST00000321522	T	0.00063	8.78	3.76	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.773870	0.11337	N	0.574407	T	0.00109	0.0003	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11203	-1.0597	10	0.25106	T	0.35	.	2.1794	0.03870	0.1014:0.1678:0.3873:0.3435	.	221	Q8NGJ4	O52E2_HUMAN	Y	221	ENSP00000322088:H221Y	ENSP00000322088:H221Y	H	-	1	0	OR52E2	5036773	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.963000	0.03837	0.536000	0.28733	0.644000	0.83932	CAT		0.398	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		33	47	0	0	0	1	0	33	47				
MUC17	140453	broad.mit.edu	37	7	100677562	100677562	+	Silent	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:100677562G>C	ENST00000306151.4	+	3	2929	c.2865G>C	c.(2863-2865)gtG>gtC	p.V955V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	955	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTGACCACTTCTA	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2863-2865)gtG>gtC		mucin 17, cell surface associated																																				SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677562G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2865G>C	7.37:g.100677562G>C							p.V955V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2929	+	Lung NSC(181;0.136)|all_lung(186;0.182)		955			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2865G>C	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	558	0	0	0	1	0	5	558				
WDR92	116143	broad.mit.edu	37	2	68364552	68364552	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:68364552T>A	ENST00000295121.6	-	6	763	c.647A>T	c.(646-648)gAg>gTg	p.E216V	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.E216V|WDR92_ENST00000406245.2_Missense_Mutation_p.E115V|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	216					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TCTGTCAAACTCCAAGCTACA	0.368																																						ENST00000295121.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.(646-648)gAg>gTg		WD repeat domain 92							115.0	115.0	115.0					2																	68364552		2202	4300	6502	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68364552T>A	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.647A>T	2.37:g.68364552T>A	ENSP00000295121:p.Glu216Val					WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.E216V|WDR92_ENST00000406245.2_Missense_Mutation_p.E115V	p.E216V	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN			6	763	-			216					Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.647A>T	CCDS1884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.4|25.4	4.629757|4.629757	0.87660|0.87660	.|.	.|.	ENSG00000243667|ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164|ENST00000457114	T;T;T|.	0.64991|.	1.62;1.62;-0.13|.	6.03|6.03	6.03|6.03	0.97812|0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.83529|0.83529	0.5274|0.5274	M|M	0.88241|0.88241	2.94|2.94	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.67900|.	0.954|.	D|D	0.86048|0.86048	0.1524|0.1524	10|5	0.56958|.	D|.	0.05|.	.|.	16.5582|16.5582	0.84512|0.84512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	216|.	Q96MX6|.	WDR92_HUMAN|.	V|C	216;115;216|20	ENSP00000295121:E216V;ENSP00000384518:E115V;ENSP00000386746:E216V|.	ENSP00000295121:E216V|.	E|S	-|-	2|1	0|0	WDR92|WDR92	68218056|68218056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	8.040000|8.040000	0.89188|0.89188	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.368	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		4	29	0	0	0	1	0	4	29				
GCSH	2653	broad.mit.edu	37	16	81124263	81124263	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:81124263G>C	ENST00000315467.3	-	2	295	c.171C>G	c.(169-171)caC>caG	p.H57Q	GCSH_ENST00000566566.1_Missense_Mutation_p.H57Q	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	57					glycine catabolic process (GO:0006546)|glycine decarboxylation via glycine cleavage system (GO:0019464)|methylation (GO:0032259)	glycine cleavage complex (GO:0005960)|mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	TTACCCATTCGTGTTTCTCTG	0.368																																						ENST00000315467.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5						c.(169-171)caC>caG		glycine cleavage system protein H (aminomethyl carrier)	Glycine(DB00145)						177.0	156.0	163.0					16																	81124263		2200	4300	6500	SO:0001583	missense	2653					glycine cleavage complex|mitochondrion	aminomethyltransferase activity	g.chr16:81124263G>C	M69175	CCDS10933.1	16q23.2	2014-09-17			ENSG00000140905	ENSG00000140905			4208	protein-coding gene	gene with protein product	"""lipoic acid-containing protein"""	238330				1671321, 2025283	Standard	NM_004483		Approved		uc002fgd.3	P23434	OTTHUMG00000137626	ENST00000315467.3:c.171C>G	16.37:g.81124263G>C	ENSP00000319531:p.His57Gln					GCSH_ENST00000566566.1_Missense_Mutation_p.H57Q	p.H57Q	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN			2	295	-			57					Q9H1E9	Missense_Mutation	SNP	ENST00000315467.3	37	c.171C>G	CCDS10933.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384623	0.61845	.	.	ENSG00000140905	ENST00000315467	T	0.51574	0.7	5.63	-3.45	0.04781	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	H	0.99261	4.49	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.84301	0.0505	10	0.87932	D	0	.	14.4865	0.67622	0.5096:0.0:0.4904:0.0	.	57	P23434	GCSH_HUMAN	Q	57	ENSP00000319531:H57Q	ENSP00000319531:H57Q	H	-	3	2	GCSH	79681764	0.006000	0.16342	0.976000	0.42696	0.971000	0.66376	-0.647000	0.05397	-0.614000	0.05687	-0.238000	0.12139	CAC		0.368	GCSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269049.1	NM_004483		7	57	0	0	0	1	0	7	57				
EFCAB5	374786	broad.mit.edu	37	17	28409928	28409928	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:28409928G>C	ENST00000394835.3	+	18	3638	c.3446G>C	c.(3445-3447)aGc>aCc	p.S1149T	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S1025T	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1149							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AATGTCTTTAGCACTGCCTAT	0.388																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(3445-3447)aGc>aCc		EF-hand calcium binding domain 5							168.0	146.0	153.0					17																	28409928		1979	4169	6148	SO:0001583	missense	374786						calcium ion binding	g.chr17:28409928G>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3446G>C	17.37:g.28409928G>C	ENSP00000378312:p.Ser1149Thr					EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S1025T	p.S1149T	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			18	3638	+			1149					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3446G>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026405	0.75390	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.47528	0.84;0.84;0.84	5.32	5.32	0.75619	GAF (1);	0.000000	0.64402	D	0.000004	T	0.69133	0.3077	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.945	T	0.72789	-0.4187	10	0.87932	D	0	-15.0786	16.1424	0.81536	0.0:0.0:1.0:0.0	.	1025;1149	E7EVS9;A4FU69	.;EFCB5_HUMAN	T	1149;1025;831	ENSP00000378312:S1149T;ENSP00000322003:S1025T;ENSP00000417009:S831T	ENSP00000322003:S1025T	S	+	2	0	EFCAB5	25434054	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.053000	0.71089	2.510000	0.84645	0.591000	0.81541	AGC		0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		18	62	0	0	0	1	0	18	62				
AARSD1	80755	broad.mit.edu	37	17	41102669	41102669	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:41102669G>A	ENST00000427569.2	-	12	1215	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.R568W|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R568W|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R507W|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R477W	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	394					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCTCCATCCGCCGGCTCATC	0.577																																						ENST00000421990.2																			0											c.(1702-1704)Cgg>Tgg									84.0	76.0	79.0					17																	41102669		2203	4300	6503	SO:0001583	missense	100885850							g.chr17:41102669G>A	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.1180C>T	17.37:g.41102669G>A	ENSP00000400870:p.Arg394Trp					PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R507W|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R568W|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R477W|AARSD1_ENST00000427569.2_Missense_Mutation_p.R394W	p.R568W	NM_001136042.2	NP_001129514.2					17	2047	-								B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.1702C>T	CCDS58552.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414883	0.62511	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	T;T	0.46063	0.88;0.88	5.88	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.74258	2.255	0.47737	D	0.999507	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.95	T	0.73805	-0.3867	9	0.66056	D	0.02	-23.8382	13.9217	0.63935	0.0:0.0:0.7234:0.2766	.	568;477;525;394	B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;AASD1_HUMAN	W	507;568;568;394;477	ENSP00000386621:R568W;ENSP00000409924:R568W	ENSP00000353355:R507W	R	-	1	2	AARSD1	38356195	1.000000	0.71417	0.952000	0.39060	0.671000	0.39405	3.641000	0.54360	1.435000	0.47434	0.655000	0.94253	CGG		0.577	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		27	25	0	0	0	1	0	27	25				
SLC45A3	85414	broad.mit.edu	37	1	205628434	205628434	+	Silent	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:205628434C>A	ENST00000367145.3	-	5	1885	c.1590G>T	c.(1588-1590)ctG>ctT	p.L530L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	530					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CGACCAGACCCAGGCCTGCGG	0.547			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(1588-1590)ctG>ctT		solute carrier family 45, member 3							77.0	76.0	77.0					1																	205628434		2203	4300	6503	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205628434C>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1590G>T	1.37:g.205628434C>A			OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_ENST00000460934.1_5'UTR	p.L530L	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1885	-	Breast(84;0.07)		530					A8K2U9	Silent	SNP	ENST00000367145.3	37	c.1590G>T	CCDS1458.1																																																																																				0.547	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		8	79	1	0	0.00307968	1	0.00314555	8	79				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			6	409	0	0	0	1	0	6	409				
TBC1D10A	83874	broad.mit.edu	37	22	30722863	30722863	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:30722863T>C	ENST00000215790.7	-	1	172	c.8A>G	c.(7-9)aAg>aGg	p.K3R	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.K3R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	3					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCCGTTGCTCTTCGCCATCCC	0.781																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(7-9)aAg>aGg		TBC1 domain family, member 10A							4.0	6.0	5.0					22																	30722863		1812	3704	5516	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30722863T>C	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.8A>G	22.37:g.30722863T>C	ENSP00000215790:p.Lys3Arg					TBC1D10A_ENST00000403477.3_Missense_Mutation_p.K3R|TBC1D10A_ENST00000490449.1_5'UTR	p.K3R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			1	172	-			3					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.8A>G	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.860923	0.32884	.	.	ENSG00000099992	ENST00000215790;ENST00000403477	T;T	0.05258	3.47;3.48	4.13	4.13	0.48395	.	0.418696	0.17549	N	0.170241	T	0.02571	0.0078	N	0.01705	-0.755	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.49551	-0.8928	10	0.17369	T	0.5	.	10.9528	0.47341	0.0:0.0:0.0:1.0	.	3;3;3	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	R	3	ENSP00000215790:K3R;ENSP00000384996:K3R	ENSP00000215790:K3R	K	-	2	0	TBC1D10A	29052863	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.569000	0.45973	1.627000	0.50400	0.352000	0.21897	AAG		0.781	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		3	13	0	0	0	1	0	3	13				
PLPPR4	9890	broad.mit.edu	37	1	99771596	99771596	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:99771596C>A	ENST00000370185.3	+	7	1819	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	LPPR4_ENST00000457765.1_Missense_Mutation_p.S383Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.S283Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		441					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTATGGATTCCGCTCGATCA	0.498																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1321-1323)tCc>tAc									70.0	70.0	70.0					1																	99771596		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771596C>A																												ENST00000370185.3:c.1322C>A	1.37:g.99771596C>A	ENSP00000359204:p.Ser441Tyr					LPPR4_ENST00000457765.1_Missense_Mutation_p.S383Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.S283Y	p.S441Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1819	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	441					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1322C>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486308	0.63962	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.31247	2.06;1.99;1.5	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.921	T	0.15809	-1.0424	9	.	.	.	-19.2376	19.3904	0.94578	0.0:1.0:0.0:0.0	.	383;441	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Y	441;383;441;283	ENSP00000359204:S441Y;ENSP00000394913:S383Y;ENSP00000359203:S283Y	.	S	+	2	0	RP4-788L13.1	99544184	1.000000	0.71417	0.971000	0.41717	0.717000	0.41224	7.405000	0.80007	2.575000	0.86900	0.650000	0.86243	TCC		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			24	62	1	0	4.47668e-21	1	5.05944e-21	24	62				
LIMCH1	22998	broad.mit.edu	37	4	41652416	41652416	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:41652416G>A	ENST00000313860.7	+	13	1726	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	LIMCH1_ENST00000508501.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G546R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G392R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G392R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G387R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G943R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G404R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G558R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	558					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATAGGTAGACGGGAAAGTCAG	0.433																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1672-1674)Ggg>Agg		LIM and calponin homology domains 1							104.0	102.0	103.0					4																	41652416		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41652416G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1672G>A	4.37:g.41652416G>A	ENSP00000316891:p.Gly558Arg					LIMCH1_ENST00000512820.1_Missense_Mutation_p.G546R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G404R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G392R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G392R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G387R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G943R	p.G558R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			13	1726	+			558					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.1672G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767446	0.90020	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.49;1.06;1.1;1.08;0.54;1.09;0.44;0.5;0.44;0.46;0.5;0.44	5.93	5.93	0.95920	.	0.056326	0.64402	D	0.000001	T	0.71846	0.3388	L	0.58101	1.795	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.997;0.997;1.0;0.997;0.999;0.998;0.997;0.985	D;D;D;P;P;D;P;D;P;P;B	0.97110	0.918;0.963;0.98;0.897;0.897;1.0;0.897;0.936;0.811;0.748;0.408	T	0.71613	-0.4540	10	0.72032	D	0.01	-19.5484	20.3539	0.98825	0.0:0.0:1.0:0.0	.	309;392;558;392;404;943;387;546;558;558;558	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	R	387;558;558;558;558;546;943;399;942;399;392;404;392	ENSP00000425222:G387R;ENSP00000424825:G558R;ENSP00000424645:G558R;ENSP00000316891:G558R;ENSP00000427045:G558R;ENSP00000424437:G546R;ENSP00000425631:G943R;ENSP00000421242:G399R;ENSP00000426334:G399R;ENSP00000422864:G392R;ENSP00000379840:G404R;ENSP00000371172:G392R	ENSP00000316891:G558R	G	+	1	0	LIMCH1	41347173	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.436000	0.66538	2.826000	0.97356	0.655000	0.94253	GGG		0.433	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		11	47	0	0	0	1	0	11	47				
FOXA2	3170	broad.mit.edu	37	20	22563311	22563311	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr20:22563311T>C	ENST00000377115.4	-	3	732	c.551A>G	c.(550-552)gAg>gGg	p.E184G	FOXA2_ENST00000419308.2_Missense_Mutation_p.E190G	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	184					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGGTAGATCTCGCTCAGCGT	0.582																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(550-552)gAg>gGg		forkhead box A2							133.0	116.0	122.0					20																	22563311		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563311T>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.551A>G	20.37:g.22563311T>C	ENSP00000366319:p.Glu184Gly					FOXA2_ENST00000319993.4_Missense_Mutation_p.E190G|FOXA2_ENST00000377115.4_Missense_Mutation_p.E184G	p.E184G	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	753	-	Lung NSC(19;0.188)		184					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.551A>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188154	0.78789	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.96136	-3.92;-3.92;-3.92	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000011	D	0.94108	0.8111	L	0.37800	1.135	0.80722	D	1	B;P	0.43857	0.268;0.819	B;P	0.48227	0.219;0.571	D	0.94779	0.7952	10	0.87932	D	0	.	14.3356	0.66586	0.0:0.0:0.0:1.0	.	184;190	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	G	184;184;190;70	ENSP00000366319:E184G;ENSP00000400341:E184G;ENSP00000315955:E190G	ENSP00000315955:E190G	E	-	2	0	FOXA2	22511311	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.106000	0.64597	1.867000	0.54127	0.468000	0.43344	GAG		0.582	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			31	104	0	0	0	1	0	31	104				
GRIN2A	2903	broad.mit.edu	37	16	9858383	9858383	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:9858383C>T	ENST00000396573.2	-	14	3327	c.3018G>A	c.(3016-3018)gcG>gcA	p.A1006A	GRIN2A_ENST00000404927.2_Silent_p.A1006A|GRIN2A_ENST00000396575.2_Silent_p.A1006A|GRIN2A_ENST00000330684.3_Silent_p.A1006A|GRIN2A_ENST00000535259.1_Silent_p.A849A|GRIN2A_ENST00000562109.1_Silent_p.A1006A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1006					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.A1006A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCTAGAGTTCGCTTTGGATT	0.507																																						ENST00000396573.2																			1	Substitution - coding silent(1)	p.A1006A(1)	cervix(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3016-3018)gcG>gcA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						93.0	92.0	93.0					16																	9858383		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858383C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3018G>A	16.37:g.9858383C>T						GRIN2A_ENST00000330684.3_Silent_p.A1006A|GRIN2A_ENST00000404927.2_Silent_p.A1006A|GRIN2A_ENST00000535259.1_Silent_p.A849A|GRIN2A_ENST00000396575.2_Silent_p.A1006A|GRIN2A_ENST00000562109.1_Silent_p.A1006A	p.A1006A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3327	-			1006					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.3018G>A	CCDS10539.1																																																																																				0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			20	88	0	0	0	1	0	20	88				
CNOT3	4849	broad.mit.edu	37	19	54652230	54652230	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:54652230C>T	ENST00000406403.1	+	10	2845	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	CNOT3_ENST00000358389.3_Silent_p.S233S|CNOT3_ENST00000221232.5_Silent_p.S414S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	414	Gly/Ser-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					gtagtaacagcagtgccggtg	0.741																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1240-1242)agC>agT		CCR4-NOT transcription complex, subunit 3							5.0	6.0	6.0					19																	54652230		2122	4173	6295	SO:0001819	synonymous_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54652230C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1242C>T	19.37:g.54652230C>T						CNOT3_ENST00000358389.3_Silent_p.S233S|CNOT3_ENST00000221232.5_Silent_p.S414S	p.S414S			O75175	CNOT3_HUMAN			10	2845	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		414			Gly/Ser-rich.		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1242C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	c	8.922	0.961315	0.18583	.	.	ENSG00000088038	ENST00000440571	.	.	.	2.62	1.57	0.23409	.	.	.	.	.	T	0.51295	0.1666	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40776	-0.9545	4	.	.	.	-1.7879	4.7557	0.13082	0.0:0.8133:0.0:0.1867	.	.	.	.	V	336	.	.	A	+	2	0	CNOT3	59344042	0.006000	0.16342	0.108000	0.21378	0.923000	0.55619	-0.058000	0.11750	0.640000	0.30582	0.486000	0.48141	GCA		0.741	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		7	14	0	0	0	1	0	7	14				
ZNF777	27153	broad.mit.edu	37	7	149153094	149153094	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:149153094G>C	ENST00000247930.4	-	2	343	c.20C>G	c.(19-21)tCa>tGa	p.S7*		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGACAGAGGTGATGAGCGTTG	0.517																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(19-21)tCa>tGa		zinc finger protein 777							54.0	56.0	56.0					7																	149153094		1957	4141	6098	SO:0001587	stop_gained	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149153094G>C	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.20C>G	7.37:g.149153094G>C	ENSP00000247930:p.Ser7*						p.S7*	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	343	-	Melanoma(164;0.165)		7					Q8N2R2|Q8N659	Nonsense_Mutation	SNP	ENST00000247930.4	37	c.20C>G	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	39	7.394363	0.98255	.	.	ENSG00000196453	ENST00000247930	.	.	.	4.81	4.81	0.61882	.	0.000000	0.38326	N	0.001727	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.992	13.7707	0.63023	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000247930:S7X	S	-	2	0	ZNF777	148784027	0.163000	0.22920	0.822000	0.32727	0.993000	0.82548	3.234000	0.51320	2.386000	0.81285	0.563000	0.77884	TCA		0.517	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		41	22	0	0	0	1	0	41	22				
PNLIPRP1	5407	broad.mit.edu	37	10	118357568	118357568	+	Missense_Mutation	SNP	C	C	T	rs147786434		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:118357568C>T	ENST00000528052.1	+	8	775	c.704C>T	c.(703-705)aCg>aTg	p.T235M	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235M|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235M			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	235					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GGTTTTGGAACGAACCAACAG	0.463																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(703-705)aCg>aTg		pancreatic lipase-related protein 1		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	114.0	104.0	108.0		704	-2.6	0.0	10	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PNLIPRP1	NM_006229.2	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	235/468	118357568	2,13004	2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118357568C>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.704C>T	10.37:g.118357568C>T	ENSP00000433933:p.Thr235Met					PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235M|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235M	p.T235M			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	8	775	+			235					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.704C>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.204262	0.01568	2.27E-4	1.16E-4	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000527980;ENST00000534537	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.2	-2.61	0.06171	Lipase, N-terminal (1);	0.485175	0.21752	N	0.069660	T	0.68897	0.3051	N	0.02111	-0.68	0.18873	N	0.999983	B	0.17852	0.024	B	0.15484	0.013	T	0.62229	-0.6898	10	0.02654	T	1	-1.1166	11.7422	0.51799	0.0:0.4037:0.0:0.5963	.	235	P54315	LIPR1_HUMAN	M	235;235;162;235	ENSP00000351695:T235M;ENSP00000433933:T235M;ENSP00000433785:T162M;ENSP00000434159:T235M	ENSP00000351695:T235M	T	+	2	0	PNLIPRP1	118347558	0.056000	0.20664	0.003000	0.11579	0.293000	0.27360	0.366000	0.20365	-0.476000	0.06842	-0.119000	0.15052	ACG		0.463	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		27	70	0	0	0	1	0	27	70				
RYR1	6261	broad.mit.edu	37	19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	rs138647599		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:38996982G>A	ENST00000359596.3	+	55	8581	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000355481.4_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2861	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCAGCCCCCCGACCTTAGTGC	0.607																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(8581-8583)Gac>Aac		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	58.0	57.0	57.0		8581,8581	3.5	1.0	19	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	2861/5039,2861/5034	38996982	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38996982G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8581G>A	19.37:g.38996982G>A	ENSP00000352608:p.Asp2861Asn					RYR1_ENST00000359596.3_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N	p.D2861N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		55	8712	+	all_cancers(60;7.91e-06)		2861			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.8581G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862678	0.51482	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94000	-3.33;-3.33;-3.33	3.47	3.47	0.39725	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000003	D	0.96059	0.8716	M	0.79475	2.455	0.49389	D	0.999782	D;B	0.67145	0.996;0.171	D;B	0.71870	0.975;0.009	D	0.96570	0.9422	10	0.87932	D	0	.	14.2529	0.66031	0.0:0.0:1.0:0.0	.	2861;2861	P21817-2;P21817	.;RYR1_HUMAN	N	2861	ENSP00000352608:D2861N;ENSP00000347667:D2861N;ENSP00000354254:D2861N	ENSP00000347667:D2861N	D	+	1	0	RYR1	43688822	1.000000	0.71417	0.985000	0.45067	0.455000	0.32408	7.250000	0.78287	1.952000	0.56665	0.305000	0.20034	GAC		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			32	56	0	0	0	1	0	32	56				
PAX9	5083	broad.mit.edu	37	14	37132577	37132577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:37132577C>A	ENST00000361487.6	+	2	705	c.480C>A	c.(478-480)taC>taA	p.Y160*	PAX9_ENST00000402703.2_Nonsense_Mutation_p.Y160*|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	160					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ACCACATCTACTCGTACCCCA	0.672																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(478-480)taC>taA		paired box 9							45.0	41.0	42.0					14																	37132577		2203	4300	6503	SO:0001587	stop_gained	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132577C>A	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.480C>A	14.37:g.37132577C>A	ENSP00000355245:p.Tyr160*					PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.Y160*	p.Y160*			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	705	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		160					Q99582|Q9UQR4	Nonsense_Mutation	SNP	ENST00000361487.6	37	c.480C>A	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	42	9.447812	0.99174	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	5.25	2.11	0.27256	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9467	0.35762	0.0:0.6861:0.0:0.3139	.	.	.	.	X	160	.	ENSP00000355245:Y160X	Y	+	3	2	PAX9	36202328	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.390000	0.34464	0.480000	0.27534	0.561000	0.74099	TAC		0.672	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			32	62	1	0	2.47511e-08	1	2.67088e-08	32	62				
TMEM117	84216	broad.mit.edu	37	12	44693489	44693489	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:44693489T>G	ENST00000266534.3	+	6	862	c.735T>G	c.(733-735)ttT>ttG	p.F245L	TMEM117_ENST00000536799.1_Missense_Mutation_p.F141L|TMEM117_ENST00000551577.1_Missense_Mutation_p.F245L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	245						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTGCTTCTTTTATCTTGGTCT	0.448																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(733-735)ttT>ttG		transmembrane protein 117							307.0	280.0	289.0					12																	44693489		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44693489T>G	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.735T>G	12.37:g.44693489T>G	ENSP00000266534:p.Phe245Leu					TMEM117_ENST00000536799.1_Missense_Mutation_p.F141L|TMEM117_ENST00000551577.1_Missense_Mutation_p.F245L	p.F245L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	6	862	+	Lung SC(27;0.192)		245						Missense_Mutation	SNP	ENST00000266534.3	37	c.735T>G	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506582	0.64410	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.54675	0.56;0.56;0.56	5.21	4.31	0.51392	.	0.047867	0.85682	D	0.000000	T	0.64271	0.2583	L	0.59436	1.845	0.44508	D	0.997453	D;D;D	0.67145	0.974;0.996;0.974	D;D;D	0.73380	0.953;0.98;0.953	T	0.61959	-0.6955	10	0.34782	T	0.22	-15.802	9.7109	0.40245	0.0:0.8376:0.0:0.1624	.	245;141;245	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	L	245;245;141	ENSP00000448595:F245L;ENSP00000266534:F245L;ENSP00000445243:F141L	ENSP00000266534:F245L	F	+	3	2	TMEM117	42979756	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.551000	0.45820	1.299000	0.44798	-0.462000	0.05337	TTT		0.448	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		36	121	0	0	0	1	0	36	121				
DSEL	92126	broad.mit.edu	37	18	65179007	65179007	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:65179007G>C	ENST00000310045.7	-	2	4342	c.2869C>G	c.(2869-2871)Ctg>Gtg	p.L957V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	947					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATTGGGCCAGTTTACCCCTA	0.393																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2869-2871)Ctg>Gtg		dermatan sulfate epimerase-like							51.0	56.0	54.0					18																	65179007		2199	4297	6496	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179007G>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2869C>G	18.37:g.65179007G>C	ENSP00000310565:p.Leu957Val					CTD-2541J13.2_ENST00000583493.1_RNA	p.L957V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4342	-		Esophageal squamous(42;0.129)	947					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2869C>G	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.787079	0.31593	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.82344	-1.6	4.99	4.11	0.48088	Sulfotransferase domain (1);	0.457271	0.21408	U	0.075035	T	0.74222	0.3688	L	0.44542	1.39	0.29849	N	0.828588	B	0.19073	0.033	B	0.22152	0.038	T	0.65492	-0.6155	10	0.31617	T	0.26	-0.5362	6.4459	0.21875	0.1608:0.0:0.6816:0.1576	.	947	Q8IZU8	DSEL_HUMAN	V	957;947	ENSP00000310565:L957V	ENSP00000310565:L957V	L	-	1	2	DSEL	63329987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.535000	0.45685	1.106000	0.41623	0.558000	0.71614	CTG		0.393	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		20	46	0	0	0	1	0	20	46				
ZNF124	7678	broad.mit.edu	37	1	247323032	247323032	+	Silent	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:247323032A>G	ENST00000543802.2	-	2	203	c.114T>C	c.(112-114)taT>taC	p.Y38Y	ZNF124_ENST00000340684.6_Silent_p.Y38Y|ZNF124_ENST00000491356.1_Silent_p.Y38Y|ZNF124_ENST00000472531.1_Silent_p.Y38Y|ZNF124_ENST00000491848.1_5'UTR			Q15973	ZN124_HUMAN	zinc finger protein 124	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCACGTCTCTATAGAGATTCT	0.418																																						ENST00000472531.1																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(112-114)taT>taC		zinc finger protein 124							111.0	110.0	110.0					1																	247323032		2203	4300	6503	SO:0001819	synonymous_variant	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247323032A>G	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.114T>C	1.37:g.247323032A>G						ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000491356.1_Silent_p.Y38Y|ZNF124_ENST00000340684.6_Silent_p.Y38Y|ZNF124_ENST00000543802.2_Silent_p.Y38Y	p.Y38Y	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		2	241	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		38			KRAB.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Silent	SNP	ENST00000543802.2	37	c.114T>C																																																																																					0.418	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		37	47	0	0	0	1	0	37	47				
PDZRN4	29951	broad.mit.edu	37	12	41966391	41966391	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:41966391G>A	ENST00000402685.2	+	10	1818	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E344K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E346K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	604							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAGTACAATGAGAGCCTCGT	0.493																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1030-1032)Gag>Aag		PDZ domain containing ring finger 4							83.0	82.0	82.0					12																	41966391		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966391G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1810G>A	12.37:g.41966391G>A	ENSP00000384197:p.Glu604Lys					PDZRN4_ENST00000539469.2_Missense_Mutation_p.E346K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E604K	p.E344K			Q6ZMN7	PZRN4_HUMAN			10	1418	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	604					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1030G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165630	0.38217	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.74106	-0.81;3.7;3.7	4.64	1.59	0.23543	.	0.155766	0.43416	D	0.000576	T	0.73674	0.3617	M	0.62723	1.935	0.43942	D	0.996603	P;P;B	0.45126	0.851;0.624;0.128	B;B;B	0.43413	0.182;0.419;0.197	T	0.75360	-0.3345	10	0.48119	T	0.1	-18.7853	16.8277	0.85935	0.0:0.4819:0.5181:0.0	.	604;344;346	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	604;346;344	ENSP00000384197:E604K;ENSP00000439990:E346K;ENSP00000298919:E344K	ENSP00000298919:E344K	E	+	1	0	PDZRN4	40252658	0.994000	0.37717	0.229000	0.23960	0.755000	0.42902	2.128000	0.42045	0.204000	0.20548	0.650000	0.86243	GAG		0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		19	52	0	0	0	1	0	19	52				
ALPK2	115701	broad.mit.edu	37	18	56203186	56203186	+	Silent	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:56203186C>G	ENST00000361673.3	-	5	4446	c.4233G>C	c.(4231-4233)gtG>gtC	p.V1411V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1411						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTACTCTATCACACTTATCT	0.473																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(4231-4233)gtG>gtC		alpha-kinase 2							66.0	67.0	67.0					18																	56203186		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203186C>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4233G>C	18.37:g.56203186C>G						RP11-1151B14.4_ENST00000591360.1_RNA	p.V1411V	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	4446	-			1411					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.4233G>C	CCDS11966.2																																																																																				0.473	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		18	67	0	0	0	1	0	18	67				
ZFAT	57623	broad.mit.edu	37	8	135533158	135533158	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:135533158C>G	ENST00000377838.3	-	13	3376	c.3202G>C	c.(3202-3204)Gtg>Ctg	p.V1068L	ZFAT_ENST00000520727.1_Missense_Mutation_p.V1056L|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1056L|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1056L|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1006L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520356.1_Missense_Mutation_p.V1056L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1068					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATTTCCACCACCTTCAAGCCA	0.413																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3166-3168)Gtg>Ctg		zinc finger and AT hook domain containing							78.0	73.0	75.0					8																	135533158		1851	4103	5954	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135533158C>G	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3202G>C	8.37:g.135533158C>G	ENSP00000367069:p.Val1068Leu					ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1056L|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1006L|ZFAT_ENST00000520356.1_Missense_Mutation_p.V1056L|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1068L|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1056L	p.V1056L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3465	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1068					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3166G>C	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	7.158	0.585046	0.13749	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.09163	3.19;3.01;3.13;3.02;3.01;3.03	5.53	-4.03	0.04021	.	0.425154	0.22998	N	0.053117	T	0.03564	0.0102	N	0.02916	-0.46	0.24829	N	0.992531	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.001	T	0.39251	-0.9623	10	0.20519	T	0.43	-6.1008	12.3369	0.55073	0.1425:0.2831:0.5744:0.0	.	187;1006;1056;1068	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	L	1056;1056;1056;1068;1056;955;1006	ENSP00000427879:V1056L;ENSP00000427831:V1056L;ENSP00000394501:V1056L;ENSP00000367069:V1068L;ENSP00000428483:V1056L;ENSP00000429091:V1006L	ENSP00000326997:V955L	V	-	1	0	ZFAT	135602340	0.595000	0.26857	0.970000	0.41538	0.999000	0.98932	-0.388000	0.07352	-0.742000	0.04790	0.644000	0.83932	GTG		0.413	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		5	32	0	0	0	1	0	5	32				
TMEM151A	256472	broad.mit.edu	37	11	66062192	66062192	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:66062192G>A	ENST00000327259.4	+	2	619	c.475G>A	c.(475-477)Gtg>Atg	p.V159M		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	159						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CTATCACTACGTGCGGCGCAC	0.716																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(475-477)Gtg>Atg		transmembrane protein 151A							12.0	11.0	11.0					11																	66062192		2145	4188	6333	SO:0001583	missense	256472					integral to membrane		g.chr11:66062192G>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.475G>A	11.37:g.66062192G>A	ENSP00000326244:p.Val159Met						p.V159M	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	619	+			159					Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	c.475G>A	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799110	0.70567	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000012	T	0.68412	0.2998	M	0.67397	2.05	0.43531	D	0.995811	D	0.71674	0.998	P	0.59948	0.866	T	0.71527	-0.4566	9	0.72032	D	0.01	.	10.746	0.46181	0.0921:0.0:0.9079:0.0	.	159	Q8N4L1	T151A_HUMAN	M	159	.	ENSP00000326244:V159M	V	+	1	0	TMEM151A	65818768	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.132000	0.50523	2.438000	0.82558	0.561000	0.74099	GTG		0.716	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		5	17	0	0	0	1	0	5	17				
GPR156	165829	broad.mit.edu	37	3	119912200	119912200	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:119912200G>T	ENST00000464295.1	-	4	750	c.305C>A	c.(304-306)gCt>gAt	p.A102D	GPR156_ENST00000461057.1_Missense_Mutation_p.A102D|GPR156_ENST00000315843.3_Missense_Mutation_p.A102D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAAGAGGTAAGCGCTACTGTA	0.413																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(304-306)gCt>gAt		G protein-coupled receptor 156							103.0	94.0	97.0					3																	119912200		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119912200G>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.305C>A	3.37:g.119912200G>T	ENSP00000417261:p.Ala102Asp					GPR156_ENST00000461057.1_Missense_Mutation_p.A102D|GPR156_ENST00000315843.3_Missense_Mutation_p.A102D	p.A102D			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	4	750	-			102					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.305C>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815408	0.70912	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.88664	-2.41;-2.41;-2.41	4.94	4.03	0.46877	GPCR, family 3, C-terminal (2);	0.081898	0.51477	D	0.000096	D	0.91284	0.7252	M	0.61703	1.905	0.47994	D	0.999561	D;D	0.65815	0.995;0.995	P;P	0.60541	0.876;0.825	D	0.90323	0.4346	9	.	.	.	-3.3295	10.5892	0.45300	0.0988:0.0:0.9012:0.0	.	102;102	E9PFZ4;Q8NFN8	.;GP156_HUMAN	D	102	ENSP00000417261:A102D;ENSP00000324553:A102D;ENSP00000418758:A102D	.	A	-	2	0	GPR156	121394890	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.824000	0.55723	1.382000	0.46385	0.655000	0.94253	GCT		0.413	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		8	81	1	0	0.27861	1	0.27861	8	81				
LRMP	4033	broad.mit.edu	37	12	25243014	25243014	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:25243014G>T	ENST00000354454.3	+	13	1318	c.489G>T	c.(487-489)ttG>ttT	p.L163F	LRMP_ENST00000547044.1_Missense_Mutation_p.L163F|LRMP_ENST00000548766.1_Missense_Mutation_p.L163F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	219					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GATTATCTTTGGGATTTAAGT	0.398																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(487-489)ttG>ttT		lymphoid-restricted membrane protein							119.0	122.0	121.0					12																	25243014		2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25243014G>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.489G>T	12.37:g.25243014G>T	ENSP00000346442:p.Leu163Phe					LRMP_ENST00000547044.1_Missense_Mutation_p.L163F|LRMP_ENST00000548766.1_Missense_Mutation_p.L163F	p.L163F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			13	1318	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		219					A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.489G>T	CCDS8701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.065417|4.065417	0.76187|0.76187	.|.	.|.	ENSG00000118308|ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044|ENST00000555885	T;T;T;T|.	0.29655|.	1.56;1.56;1.56;1.56|.	5.76|5.76	4.87|4.87	0.63330|0.63330	.|.	0.079974|.	0.52532|.	D|.	0.000073|.	T|T	0.73071|0.73071	0.3540|0.3540	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.74337|0.74337	-0.3698|-0.3698	10|5	0.87932|.	D|.	0|.	-10.5001|-10.5001	9.7597|9.7597	0.40524|0.40524	0.0:0.1529:0.6885:0.1586|0.0:0.1529:0.6885:0.1586	.|.	219|.	Q12912|.	LRMP_HUMAN|.	F|L	163;110;163;163|14	ENSP00000346442:L163F;ENSP00000444056:L110F;ENSP00000446496:L163F;ENSP00000450246:L163F|.	ENSP00000346442:L163F|.	L|W	+|+	3|2	2|0	LRMP|LRMP	25134281|25134281	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.997000|0.997000	0.91878|0.91878	4.959000|4.959000	0.63666|0.63666	1.432000|1.432000	0.47375|0.47375	0.655000|0.655000	0.94253|0.94253	TTG|TGG		0.398	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		26	89	1	0	9.39395e-14	1	1.04316e-13	26	89				
HPS1	3257	broad.mit.edu	37	10	100195517	100195517	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:100195517C>T	ENST00000325103.6	-	4	363	c.130G>A	c.(130-132)Gag>Aag	p.E44K	HPS1_ENST00000338546.5_Missense_Mutation_p.E44K|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.E44K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	44					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTGGTCCTCCAGGGCAGGG	0.542									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(130-132)Gag>Aag		Hermansky-Pudlak syndrome 1							72.0	77.0	75.0					10																	100195517		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100195517C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.130G>A	10.37:g.100195517C>T	ENSP00000326649:p.Glu44Lys					HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.E44K|HPS1_ENST00000338546.5_Missense_Mutation_p.E44K	p.E44K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	4	363	-		Colorectal(252;0.234)	44					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.130G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171022	0.94807	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000338546	T;T;T	0.30448	1.53;1.53;1.53	4.96	4.96	0.65561	.	0.049209	0.85682	D	0.000000	T	0.58779	0.2146	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.997;0.999	D;D;D;D	0.85130	0.95;0.997;0.95;0.977	T	0.63559	-0.6610	10	0.59425	D	0.04	.	18.216	0.89886	0.0:1.0:0.0:0.0	.	44;44;44;44	Q92902;Q92902-3;Q92902-2;D3DR62	HPS1_HUMAN;.;.;.	K	44	ENSP00000326649:E44K;ENSP00000355310:E44K;ENSP00000343638:E44K	ENSP00000326649:E44K	E	-	1	0	HPS1	100185507	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.425000	0.66470	2.305000	0.77605	0.555000	0.69702	GAG		0.542	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		22	89	0	0	0	1	0	22	89				
LEPRE1	64175	broad.mit.edu	37	1	43220610	43220610	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:43220610C>T	ENST00000296388.5	-	8	1326	c.1275G>A	c.(1273-1275)atG>atA	p.M425I	LEPRE1_ENST00000397054.3_Missense_Mutation_p.M425I|LEPRE1_ENST00000236040.4_Missense_Mutation_p.M425I			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	425					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGATTTCCTTCATAAGGTTCC	0.562																																						ENST00000236040.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1273-1275)atG>atA		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						110.0	99.0	103.0					1																	43220610		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43220610C>T	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1275G>A	1.37:g.43220610C>T	ENSP00000296388:p.Met425Ile					LEPRE1_ENST00000296388.5_Missense_Mutation_p.M425I|LEPRE1_ENST00000397054.3_Missense_Mutation_p.M425I	p.M425I	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			8	1315	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	425					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1275G>A	CCDS472.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.806875|4.806875	0.90623|0.90623	.|.	.|.	ENSG00000117385|ENSG00000117385	ENST00000447502|ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	.|T;T;T	.|0.37915	.|1.19;1.17;1.4	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.131466	.|0.64402	.|D	.|0.000002	T|T	0.50309|0.50309	0.1608|0.1608	M|M	0.63428|0.63428	1.95|1.95	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D	.|0.58620	.|0.98;0.967;0.983	.|P;P;P	.|0.53861	.|0.736;0.499;0.72	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.38643	.|T	.|0.18	-32.6272|-32.6272	17.0242|17.0242	0.86441|0.86441	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|425;290;425	.|Q32P28-3;B4DNM8;Q32P28	.|.;.;P3H1_HUMAN	K|I	17|425;425;425;290	.|ENSP00000380245:M425I;ENSP00000236040:M425I;ENSP00000296388:M425I	.|ENSP00000236040:M425I	E|M	-|-	1|3	0|0	LEPRE1|LEPRE1	42993197|42993197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.263000|7.263000	0.78421|0.78421	2.613000|2.613000	0.88420|0.88420	0.462000|0.462000	0.41574|0.41574	GAA|ATG		0.562	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		24	47	0	0	0	1	0	24	47				
C5orf55	116349	broad.mit.edu	37	5	442672	442672	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:442672T>G	ENST00000408966.2	-	1	586	c.266A>C	c.(265-267)cAc>cCc	p.H89P	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	89						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						AAACATCCGGTGGCCACCCAT	0.647																																						ENST00000408966.2																			0				large_intestine(1)|lung(2)	3						c.(265-267)cAc>cCc		chromosome 5 open reading frame 55							73.0	79.0	77.0					5																	442672		1898	4120	6018	SO:0001583	missense	116349					extracellular region		g.chr5:442672T>G	BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.266A>C	5.37:g.442672T>G	ENSP00000386139:p.His89Pro						p.H89P	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN			1	586	-			89					Q96CR9	Missense_Mutation	SNP	ENST00000408966.2	37	c.266A>C	CCDS43298.1	.	.	.	.	.	.	.	.	.	.	T	2.044	-0.419297	0.04766	.	.	ENSG00000221990	ENST00000408966	T	0.37915	1.17	0.849	-1.7	0.08159	.	.	.	.	.	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17379	-1.0371	9	0.87932	D	0	.	0.1112	0.00056	0.2504:0.2414:0.2507:0.2574	.	89	Q8N2X6	CE055_HUMAN	P	89	ENSP00000386139:H89P	ENSP00000386139:H89P	H	-	2	0	C5orf55	495672	0.002000	0.14202	0.000000	0.03702	0.049000	0.14656	0.137000	0.15995	-1.853000	0.01165	0.172000	0.16884	CAC		0.647	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		130	132	0	0	0	1	0	130	132				
DNAH5	1767	broad.mit.edu	37	5	13841233	13841233	+	Silent	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:13841233A>G	ENST00000265104.4	-	34	5595	c.5491T>C	c.(5491-5493)Tta>Cta	p.L1831L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1831	Stem. {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)					ATTCCTAATAATCCAACCTTA	0.323									Kartagener syndrome																													ENST00000265104.4																			0				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						c.(5491-5493)Tta>Cta		dynein, axonemal, heavy chain 5							78.0	76.0	77.0					5																	13841233		2201	4300	6501	SO:0001819	synonymous_variant	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.chr5:13841233A>G	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.5491T>C	5.37:g.13841233A>G							p.L1831L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			34	5595	-	Lung NSC(4;0.00476)		1831			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.5491T>C	CCDS3882.1																																																																																				0.323	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		16	56	0	0	0	1	0	16	56				
YARS2	51067	broad.mit.edu	37	12	32908353	32908353	+	Silent	SNP	C	C	T	rs201940521	byFrequency	TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:32908353C>T	ENST00000324868.8	-	1	483	c.456G>A	c.(454-456)gcG>gcA	p.A152A		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	152					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGTGATTAGCCGCCAGGGCCT	0.652											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	36	0.0071885	0.0	0.0029	5008	,	,		16212	0.002		0.003	False		,,,				2504	0.0297					ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(454-456)gcG>gcA		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)	C		1,4401		0,1,2200	24.0	24.0	24.0		456	-7.5	0.0	12	dbSNP_132	24	17,8571		0,17,4277	no	coding-synonymous	YARS2	NM_001040436.2		0,18,6477	TT,TC,CC		0.198,0.0227,0.1386		152/478	32908353	18,12972	2201	4294	6495	SO:0001819	synonymous_variant	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32908353C>T	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.456G>A	12.37:g.32908353C>T			OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836		p.A152A	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			1	483	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		152					D3DUW8|Q9H817	Silent	SNP	ENST00000324868.8	37	c.456G>A	CCDS31770.1																																																																																				0.652	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		15	54	0	0	0	1	0	15	54				
RADIL	55698	broad.mit.edu	37	7	4917483	4917483	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:4917483C>T	ENST00000399583.3	-	2	475	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RADIL_ENST00000536091.1_Silent_p.A96A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	96	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACCGCTCCAGCGCCTCCTTCA	0.682																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(286-288)gcG>gcA		Ras association and DIL domains							26.0	31.0	30.0					7																	4917483		2036	4137	6173	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917483C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.288G>A	7.37:g.4917483C>T						RADIL_ENST00000536091.1_Silent_p.A96A	p.A96A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	475	-		Ovarian(82;0.0175)	96			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.288G>A	CCDS43544.1																																																																																				0.682	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		30	62	0	0	0	1	0	30	62				
NACA2	342538	broad.mit.edu	37	17	59668030	59668030	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:59668030A>C	ENST00000521764.1	-	1	533	c.512T>G	c.(511-513)gTc>gGc	p.V171G		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	171					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGTTTCATCGACCTCTTCCTC	0.448																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(511-513)gTc>gGc		nascent polypeptide-associated complex alpha subunit 2							300.0	271.0	281.0					17																	59668030		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668030A>C	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.512T>G	17.37:g.59668030A>C	ENSP00000427802:p.Val171Gly						p.V171G	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	533	-	all_epithelial(1;3.12e-14)		171					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.512T>G	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183507	0.57800	.	.	ENSG00000253506	ENST00000521764	T	0.56611	0.45	0.753	-0.474	0.12108	.	0.000000	0.64402	U	0.000010	T	0.73281	0.3567	H	0.95504	3.68	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.68812	-0.5310	9	.	.	.	.	4.1253	0.10125	0.7443:0.0:0.2557:0.0	.	171	Q9H009	NACA2_HUMAN	G	171	ENSP00000427802:V171G	.	V	-	2	0	NACA2	57022812	1.000000	0.71417	0.843000	0.33291	0.640000	0.38277	6.170000	0.71920	-0.201000	0.10284	0.338000	0.21704	GTC		0.448	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		90	99	0	0	0	1	0	90	99				
CLDN10	9071	broad.mit.edu	37	13	96230191	96230191	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr13:96230191C>T	ENST00000299339.2	+	5	639	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	CLDN10_ENST00000376873.3_Missense_Mutation_p.R202W	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	204					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CATGTCTTCTCGGACAAAGTA	0.388																																						ENST00000376873.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15						c.(604-606)Cgg>Tgg		claudin 10							116.0	113.0	114.0					13																	96230191		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96230191C>T	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.610C>T	13.37:g.96230191C>T	ENSP00000299339:p.Arg204Trp					CLDN10_ENST00000299339.2_Missense_Mutation_p.R204W	p.R202W	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		5	834	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		204					Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	c.604C>T	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228632	0.79576	.	.	ENSG00000134873	ENST00000376873;ENST00000299339	D;D	0.92595	-3.07;-2.86	5.18	5.18	0.71444	.	3.345720	0.03568	U	0.228083	D	0.93838	0.8029	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.99;0.99;0.999	P;P;D	0.64776	0.698;0.698;0.929	D	0.84845	0.0810	10	0.66056	D	0.02	.	16.8965	0.86102	0.0:1.0:0.0:0.0	.	204;204;202	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	W	202;204	ENSP00000366069:R202W;ENSP00000299339:R204W	ENSP00000299339:R204W	R	+	1	2	CLDN10	95028192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.144000	0.31565	2.403000	0.81681	0.650000	0.86243	CGG		0.388	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		7	34	0	0	0	1	0	7	34				
LPAR1	1902	broad.mit.edu	37	9	113704084	113704084	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:113704084G>T	ENST00000374431.3	-	4	793	c.410C>A	c.(409-411)gCc>gAc	p.A137D	LPAR1_ENST00000358883.4_Missense_Mutation_p.A137D|LPAR1_ENST00000538760.1_Missense_Mutation_p.A138D|LPAR1_ENST00000541779.1_Missense_Mutation_p.A138D|LPAR1_ENST00000374430.2_Missense_Mutation_p.A137D	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	137					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTAAGTTGGCCACAGATGC	0.537																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(409-411)gCc>gAc		lysophosphatidic acid receptor 1							123.0	115.0	118.0					9																	113704084		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704084G>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.410C>A	9.37:g.113704084G>T	ENSP00000363553:p.Ala137Asp					LPAR1_ENST00000541779.1_Missense_Mutation_p.A138D|LPAR1_ENST00000358883.4_Missense_Mutation_p.A137D|LPAR1_ENST00000538760.1_Missense_Mutation_p.A138D|LPAR1_ENST00000374430.2_Missense_Mutation_p.A137D	p.A137D	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	793	-			137					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.410C>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118429	0.77323	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	5.53	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.050205	0.85682	D	0.000000	T	0.48909	0.1526	L	0.47716	1.5	0.80722	D	1	D;D;D	0.53619	0.961;0.961;0.961	P;P;P	0.60068	0.868;0.868;0.868	T	0.49011	-0.8983	10	0.59425	D	0.04	.	13.4092	0.60933	0.0753:0.0:0.9247:0.0	.	138;138;137	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	D	137;138;137;137;119;138;137	ENSP00000363553:A137D;ENSP00000445697:A138D;ENSP00000363552:A137D;ENSP00000351755:A137D;ENSP00000440201:A138D;ENSP00000401810:A137D	ENSP00000351755:A137D	A	-	2	0	LPAR1	112743905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.923000	0.87546	1.357000	0.45904	0.655000	0.94253	GCC		0.537	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		70	172	1	0	2.02627e-32	1	2.31747e-32	70	172				
MUC13	56667	broad.mit.edu	37	3	124646558	124646558	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:124646558A>C	ENST00000311075.3	-	2	370	c.332T>G	c.(331-333)gTa>gGa	p.V111G	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	112	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATGAATTTACATTTGTGGT	0.408																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(331-333)gTa>gGa		mucin 13, cell surface associated							245.0	238.0	240.0					3																	124646558		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646558A>C	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.332T>G	3.37:g.124646558A>C	ENSP00000312235:p.Val111Gly						p.V111G	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			2	370	-			111			Thr-rich.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.332T>G		.	.	.	.	.	.	.	.	.	.	A	1.844	-0.466820	0.04476	.	.	ENSG00000173702	ENST00000311075	T	0.15256	2.44	2.53	-1.89	0.07689	.	2.485800	0.02297	N	0.070869	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19745	-1.0296	10	0.30854	T	0.27	2.7706	0.3322	0.00320	0.2815:0.1998:0.316:0.2028	.	111	Q9H3R2	MUC13_HUMAN	G	111	ENSP00000312235:V111G	ENSP00000312235:V111G	V	-	2	0	MUC13	126129248	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.678000	0.05209	-0.537000	0.06290	-0.220000	0.12472	GTA		0.408	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		101	214	0	0	0	1	0	101	214				
MECOM	2122	broad.mit.edu	37	3	168807816	168807816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:168807816C>A	ENST00000464456.1	-	13	3982	c.2782G>T	c.(2782-2784)Gag>Tag	p.E928*	MECOM_ENST00000460814.1_Nonsense_Mutation_p.E928*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.E1116*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.E938*|MECOM_ENST00000264674.3_Nonsense_Mutation_p.E1002*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.E938*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.E937*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.E937*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAACTCATCTCCAGGGCACTG	0.428																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2782-2784)Gag>Tag		MDS1 and EVI1 complex locus							198.0	187.0	191.0					3																	168807816		2203	4300	6503	SO:0001587	stop_gained	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168807816C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2782G>T	3.37:g.168807816C>A	ENSP00000419770:p.Glu928*					MECOM_ENST00000264674.3_Nonsense_Mutation_p.E1002*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.E937*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.E928*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.E938*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.E1116*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.E938*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.E937*	p.E928*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			13	3982	-			0					Q13466|Q6FH90	Nonsense_Mutation	SNP	ENST00000464456.1	37	c.2782G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	38	7.204353	0.98132	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	.	.	.	5.46	5.46	0.80206	.	0.246763	0.29152	N	0.012987	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.8194	19.3056	0.94161	0.0:1.0:0.0:0.0	.	.	.	.	X	1002;937;928;938;1116;937;928;938	.	ENSP00000264674:E1002X	E	-	1	0	MECOM	170290510	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.623000	0.61247	2.565000	0.86533	0.650000	0.86243	GAG		0.428	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		23	546	1	0	2.27731e-05	1	2.40312e-05	23	546				
FAM46B	115572	broad.mit.edu	37	1	27333400	27333400	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:27333400G>A	ENST00000289166.5	-	2	478	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	105										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CCATGCAGCCGCACACTGTGC	0.652																																						ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(313-315)Cgg>Tgg		family with sequence similarity 46, member B							65.0	56.0	59.0					1																	27333400		2203	4300	6503	SO:0001583	missense	115572							g.chr1:27333400G>A	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.313C>T	1.37:g.27333400G>A	ENSP00000289166:p.Arg105Trp						p.R105W	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	478	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	105						Missense_Mutation	SNP	ENST00000289166.5	37	c.313C>T	CCDS294.2	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577683	0.28180	.	.	ENSG00000158246	ENST00000289166	T	0.31769	1.48	5.07	3.1	0.35709	Domain of unknown function DUF1693 (1);	0.048884	0.85682	D	0.000000	T	0.44393	0.1291	M	0.90309	3.105	0.80722	D	1	B	0.29037	0.231	B	0.32465	0.146	T	0.52426	-0.8577	10	0.87932	D	0	-18.8432	13.3263	0.60461	0.0:0.0:0.3694:0.6306	.	105	Q96A09	FA46B_HUMAN	W	105	ENSP00000289166:R105W	ENSP00000289166:R105W	R	-	1	2	FAM46B	27205987	0.527000	0.26306	0.993000	0.49108	0.555000	0.35460	1.066000	0.30604	0.630000	0.30394	-0.182000	0.12963	CGG		0.652	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		4	57	0	0	0	1	0	4	57				
NELL1	4745	broad.mit.edu	37	11	20959337	20959337	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:20959337T>C	ENST00000357134.5	+	10	1155	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	NELL1_ENST00000298925.5_Missense_Mutation_p.C363R|NELL1_ENST00000325319.5_Missense_Mutation_p.C278R|NELL1_ENST00000532434.1_Missense_Mutation_p.C335R	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	335					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TACAGCAAAATGTATCTATGG	0.418																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1087-1089)Tgt>Cgt		NEL-like 1 (chicken)							93.0	92.0	92.0					11																	20959337		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20959337T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1003T>C	11.37:g.20959337T>C	ENSP00000349654:p.Cys335Arg					NELL1_ENST00000532434.1_Missense_Mutation_p.C335R|NELL1_ENST00000357134.5_Missense_Mutation_p.C335R|NELL1_ENST00000325319.5_Missense_Mutation_p.C278R	p.C363R			Q92832	NELL1_HUMAN			11	1240	+			335			VWFC 2.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1087T>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.874819	0.72180	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.99388	-5.81;-5.81;-5.81;-5.81	5.18	5.18	0.71444	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	0.997;0.992;1.0;0.998	D;D;D;D	0.97110	0.994;0.982;1.0;0.991	D	0.98818	1.0746	10	0.87932	D	0	-10.9629	15.0403	0.71785	0.0:0.0:0.0:1.0	.	278;363;335;335	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	R	363;335;278;335	ENSP00000298925:C363R;ENSP00000349654:C335R;ENSP00000317837:C278R;ENSP00000437170:C335R	ENSP00000298925:C363R	C	+	1	0	NELL1	20915913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.525000	0.73795	1.966000	0.57179	0.459000	0.35465	TGT		0.418	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		13	28	0	0	0	1	0	13	28				
BSDC1	55108	broad.mit.edu	37	1	32842088	32842088	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:32842088C>T	ENST00000455895.2	-	9	964	c.931G>A	c.(931-933)Gag>Aag	p.E311K	BSDC1_ENST00000526031.1_Missense_Mutation_p.E216K|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000413080.1_Missense_Mutation_p.E250K|BSDC1_ENST00000449308.1_Missense_Mutation_p.E311K|BSDC1_ENST00000446293.2_Missense_Mutation_p.E328K|BSDC1_ENST00000419121.2_Missense_Mutation_p.E255K|BSDC1_ENST00000341071.7_Missense_Mutation_p.E328K	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	311										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGGATGCCTCTAGCAGCTTT	0.612																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(982-984)Gag>Aag		BSD domain containing 1							102.0	94.0	97.0					1																	32842088		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32842088C>T	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.931G>A	1.37:g.32842088C>T	ENSP00000412173:p.Glu311Lys					BSDC1_ENST00000449308.1_Missense_Mutation_p.E311K|BSDC1_ENST00000446293.2_Missense_Mutation_p.E328K|BSDC1_ENST00000419121.2_Missense_Mutation_p.E255K|BSDC1_ENST00000526031.1_Missense_Mutation_p.E216K|BSDC1_ENST00000413080.1_Missense_Mutation_p.E250K|BSDC1_ENST00000455895.2_Missense_Mutation_p.E311K	p.E328K			Q9NW68	BSDC1_HUMAN			9	993	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	311					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.982G>A	CCDS363.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540909	0.85917	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.87	4.87	0.63330	.	0.095900	0.64402	D	0.000001	T	0.60196	0.2250	M	0.61703	1.905	0.42273	D	0.992063	D;D;D;D;D	0.62365	0.991;0.968;0.982;0.984;0.969	P;P;P;P;P	0.61800	0.894;0.894;0.894;0.858;0.787	T	0.60737	-0.7204	10	0.49607	T	0.09	-18.3901	11.4097	0.49919	0.0:0.9154:0.0:0.0846	.	216;255;328;328;311	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	K	311;250;328;216;255;328;311	ENSP00000412173:E311K;ENSP00000409114:E250K;ENSP00000344816:E328K;ENSP00000432382:E216K;ENSP00000405752:E255K;ENSP00000397759:E328K;ENSP00000391762:E311K	ENSP00000344816:E328K	E	-	1	0	BSDC1	32614675	1.000000	0.71417	0.969000	0.41365	0.941000	0.58515	6.572000	0.74005	2.637000	0.89404	0.462000	0.41574	GAG		0.612	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		32	110	0	0	0	1	0	32	110				
PEX5	5830	broad.mit.edu	37	12	7342957	7342957	+	Splice_Site	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:7342957G>A	ENST00000455147.2	+	3	564		c.e3-1		PEX5_ENST00000266563.5_Splice_Site|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000420616.2_Splice_Site|PEX5_ENST00000412720.2_Splice_Site|PEX5_ENST00000545220.1_Intron|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000434354.2_Splice_Site|PEX5_ENST00000266564.3_5'UTR	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTGTCCATCAGAGAGCTGGCG	0.617																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.e2-1		peroxisomal biogenesis factor 5							66.0	71.0	69.0					12																	7342957		2203	4299	6502	SO:0001630	splice_region_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7342957G>A	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.-16-1G>A	12.37:g.7342957G>A						PEX5_ENST00000420616.2_Splice_Site|PEX5_ENST00000266564.3_5'UTR|PEX5_ENST00000412720.2_Splice_Site|PEX5_ENST00000434354.2_Splice_Site|PEX5_ENST00000455147.2_Splice_Site|PEX5_ENST00000545220.1_Intron		NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			2	167	+								A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Splice_Site	SNP	ENST00000455147.2	37		CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615783	0.46631	.	.	ENSG00000139197	ENST00000412720	.	.	.	4.3	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0589	0.53550	0.0:0.1739:0.8261:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PEX5	7234224	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	3.295000	0.51794	2.245000	0.73994	0.561000	0.74099	.		0.617	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	Intron	7	116	0	0	0	1	0	7	116				
OR51I2	390064	broad.mit.edu	37	11	5475069	5475069	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:5475069C>T	ENST00000341449.2	+	1	432	c.351C>T	c.(349-351)gcC>gcT	p.A117A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	117					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTGCTGGCCATGAGTTTTG	0.478																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(349-351)gcC>gcT		olfactory receptor, family 51, subfamily I, member 2							141.0	134.0	136.0					11																	5475069		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475069C>T	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.351C>T	11.37:g.5475069C>T						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.A117A	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	432	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	117					Q6IF81	Silent	SNP	ENST00000341449.2	37	c.351C>T	CCDS31383.1																																																																																				0.478	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		28	80	0	0	0	1	0	28	80				
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	T	rs375815032	byFrequency	TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:17611496G>T	ENST00000262102.6	-	2	2045	c.1821C>A	c.(1819-1821)gcC>gcA	p.A607A	MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000381869.3_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433																																						ENST00000381869.3																			2	Substitution - coding silent(2)	p.A607A(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1819-1821)gcC>gcA		microtubule associated tumor suppressor 1							176.0	164.0	168.0					8																	17611496		1897	4117	6014	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611496G>T	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1821C>A	8.37:g.17611496G>T						MTUS1_ENST00000262102.6_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A	p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2294	-			607					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1821C>A	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		4	125	1	0	0.014758	1	0.0148357	4	125				
ABCB5	340273	broad.mit.edu	37	7	20782527	20782527	+	Nonsense_Mutation	SNP	C	C	T	rs200343372		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:20782527C>T	ENST00000404938.2	+	25	3704	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R573*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1018	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTAGAGTTTCGAGAAGTCTC	0.453																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3052-3054)Cga>Tga		ATP-binding cassette, sub-family B (MDR/TAP), member 5		C	stop/ARG,stop/ARG	0,4406		0,0,2203	118.0	112.0	114.0		3052,1717	2.1	1.0	7		114	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained,stop-gained	ABCB5	NM_001163941.1,NM_178559.5	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1018/1258,573/813	20782527	2,13004	2203	4300	6503	SO:0001587	stop_gained	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782527C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3052C>T	7.37:g.20782527C>T	ENSP00000384881:p.Arg1018*					ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R573*	p.R1018*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			25	3704	+			573					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.3052C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	41	9.160629	0.99085	0.0	2.33E-4	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	4.96	2.07	0.26955	.	0.000000	0.44902	D	0.000412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5725	0.17204	0.2352:0.5942:0.0:0.1706	.	.	.	.	X	1018;573	.	ENSP00000258738:R573X	R	+	1	2	ABCB5	20749052	0.001000	0.12720	0.992000	0.48379	0.975000	0.68041	0.635000	0.24629	1.323000	0.45263	-0.142000	0.14014	CGA		0.453	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		9	33	0	0	0	1	0	9	33				
PAQR8	85315	broad.mit.edu	37	6	52268170	52268170	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:52268170C>T	ENST00000442253.2	+	2	333	c.159C>T	c.(157-159)acC>acT	p.T53T	PAQR8_ENST00000360726.3_Silent_p.T53T	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	53					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ACATCCGCACCGGCTACCGCC	0.607																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(157-159)acC>acT		progestin and adipoQ receptor family member VIII							62.0	63.0	63.0					6																	52268170		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268170C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.159C>T	6.37:g.52268170C>T						PAQR8_ENST00000360726.3_Silent_p.T53T	p.T53T	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	333	+	Lung NSC(77;0.0875)		53					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.159C>T	CCDS4941.1																																																																																				0.607	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		24	49	0	0	0	1	0	24	49				
AGBL1	123624	broad.mit.edu	37	15	86807624	86807624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:86807624G>T	ENST00000441037.2	+	10	1179	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	AGBL1_ENST00000421325.2_Nonsense_Mutation_p.E362*|AGBL1_ENST00000389298.3_Nonsense_Mutation_p.E93*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	362					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAAGAAAGAGAATATGCTGT	0.493																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(1084-1086)Gaa>Taa		ATP/GTP binding protein-like 1							52.0	58.0	56.0					15																	86807624		2200	4297	6497	SO:0001587	stop_gained	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86807624G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1084G>T	15.37:g.86807624G>T	ENSP00000413001:p.Glu362*					AGBL1_ENST00000389298.3_Nonsense_Mutation_p.E93*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.E362*	p.E362*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			10	1179	+			362					A1A4X5|A6NJH6|C9JHL5	Nonsense_Mutation	SNP	ENST00000441037.2	37	c.1084G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938893	0.73557	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	.	.	.	5.71	2.81	0.32909	.	1.055940	0.07303	N	0.874474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-9.9692	7.2478	0.26131	0.1488:0.139:0.7122:0.0	.	.	.	.	X	391;362;93	.	ENSP00000373949:E93X	E	+	1	0	AGBL1	84608628	0.058000	0.20735	0.013000	0.15412	0.003000	0.03518	1.281000	0.33214	0.431000	0.26258	0.650000	0.86243	GAA		0.493	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		12	23	1	0	1.08611e-07	1	1.16543e-07	12	23				
ABTB1	80325	broad.mit.edu	37	3	127396654	127396654	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:127396654G>A	ENST00000232744.8	+	10	1083	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	ABTB1_ENST00000453791.2_Missense_Mutation_p.V191M|ABTB1_ENST00000393363.3_Missense_Mutation_p.V191M|ABTB1_ENST00000468137.1_Missense_Mutation_p.V191M					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTTCACTCACGTGCTCTACTA	0.647																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(571-573)Gtg>Atg		ankyrin repeat and BTB (POZ) domain containing 1							38.0	36.0	37.0					3																	127396654		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127396654G>A	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.997G>A	3.37:g.127396654G>A	ENSP00000232744:p.Val333Met					ABTB1_ENST00000453791.2_Missense_Mutation_p.V191M|ABTB1_ENST00000393363.3_Missense_Mutation_p.V191M|ABTB1_ENST00000232744.8_Missense_Mutation_p.V333M	p.V191M			Q969K4	ABTB1_HUMAN			9	1187	+			333						Missense_Mutation	SNP	ENST00000232744.8	37	c.571G>A	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675659	0.67928	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.17	5.17	0.71159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.121926	0.56097	D	0.000032	T	0.76835	0.4043	L	0.45285	1.41	0.47065	D	0.999304	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.981;0.961	T	0.74722	-0.3569	10	0.34782	T	0.22	-5.7209	18.6737	0.91521	0.0:0.0:1.0:0.0	.	169;333;308	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	M	169;191;333;191;191	ENSP00000377030:V191M;ENSP00000232744:V333M;ENSP00000412684:V191M;ENSP00000417366:V191M	ENSP00000232744:V333M	V	+	1	0	ABTB1	128879344	0.999000	0.42202	0.997000	0.53966	0.665000	0.39181	2.524000	0.45589	2.394000	0.81467	0.591000	0.81541	GTG		0.647	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		7	35	0	0	0	1	0	7	35				
ARHGAP21	57584	broad.mit.edu	37	10	24883912	24883912	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:24883912C>T	ENST00000396432.2	-	21	4329	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Silent_p.L1068L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1280	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACTGTCTTCAGATGAGCTG	0.313																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3841-3843)ctG>ctA		Rho GTPase activating protein 21							71.0	71.0	71.0					10																	24883912		2203	4298	6501	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24883912C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3843G>A	10.37:g.24883912C>T						ARHGAP21_ENST00000320481.6_Silent_p.L1068L	p.L1281L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			21	4329	-			1280			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.3843G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	7.182	0.589862	0.13812	.	.	ENSG00000107863	ENST00000418033	.	.	.	5.52	3.67	0.42095	.	.	.	.	.	T	0.59280	0.2182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54741	-0.8248	4	.	.	.	.	9.3637	0.38212	0.0:0.7476:0.1191:0.1334	.	.	.	.	K	95	.	.	E	-	1	0	ARHGAP21	24923918	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	0.320000	0.19540	0.815000	0.34398	-0.145000	0.13849	GAA		0.313	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		20	25	0	0	0	1	0	20	25				
EPHA5	2044	broad.mit.edu	37	4	66361134	66361134	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:66361134C>G	ENST00000273854.3	-	4	1638	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.E346D|EPHA5_ENST00000511294.1_Missense_Mutation_p.E346D	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	346	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTGGATCAGACTCTCTCCTGA	0.468										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1036-1038)gaG>gaC		EPH receptor A5							175.0	170.0	171.0					4																	66361134		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361134C>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1038G>C	4.37:g.66361134C>G	ENSP00000273854:p.Glu346Asp	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.E346D|EPHA5_ENST00000354839.4_Missense_Mutation_p.E346D|EPHA5_ENST00000432638.2_Intron	p.E346D	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			4	1638	-			346			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1038G>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.367029	0.05069	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.72505	1.59;1.59;-0.66	5.84	1.14	0.20703	.	0.116804	0.37483	N	0.002073	T	0.39733	0.1089	N	0.13272	0.32	0.24712	N	0.993193	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12837	0.003;0.001;0.008;0.003	T	0.24368	-1.0162	10	0.02654	T	1	.	1.4873	0.02450	0.1368:0.3391:0.1339:0.3902	.	346;346;346;346	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	D	346	ENSP00000273854:E346D;ENSP00000346899:E346D;ENSP00000427638:E346D	ENSP00000273854:E346D	E	-	3	2	EPHA5	66043729	0.657000	0.27393	0.996000	0.52242	0.993000	0.82548	-0.356000	0.07661	-0.103000	0.12175	0.460000	0.39030	GAG		0.468	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		44	94	0	0	0	1	0	44	94				
LRP1B	53353	broad.mit.edu	37	2	141143525	141143525	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:141143525G>A	ENST00000389484.3	-	67	11439	c.10468C>T	c.(10468-10470)Ccc>Tcc	p.P3490S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3490	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGATCGGGAATACAGTTG	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10468-10470)Ccc>Tcc		low density lipoprotein receptor-related protein 1B							149.0	140.0	143.0					2																	141143525		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141143525G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10468C>T	2.37:g.141143525G>A	ENSP00000374135:p.Pro3490Ser	TSP Lung(27;0.18)					p.P3490S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	67	11439	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3490			LDL-receptor class A 25.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10468C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018022	0.93404	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95554	-3.74	6.08	6.08	0.98989	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97038	0.9755	10	0.59425	D	0.04	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	3490	Q9NZR2	LRP1B_HUMAN	S	3490;3428	ENSP00000374135:P3490S	ENSP00000374135:P3490S	P	-	1	0	LRP1B	140859995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.431000	0.97494	2.894000	0.99253	0.655000	0.94253	CCC		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		18	84	0	0	0	1	0	18	84				
STARD5	80765	broad.mit.edu	37	15	81605705	81605705	+	Silent	SNP	G	G	C	rs200366069		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:81605705G>C	ENST00000302824.6	-	6	559	c.534C>G	c.(532-534)acC>acG	p.T178T		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	178	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)	p.T178T(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGCTGAGGTCGGTATGGAAGA	0.557																																						ENST00000302824.6																			1	Substitution - coding silent(1)	p.T178T(1)	ovary(1)	large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						c.(532-534)acC>acG		StAR-related lipid transfer (START) domain containing 5							196.0	167.0	177.0					15																	81605705		2203	4300	6503	SO:0001819	synonymous_variant	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81605705G>C	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.534C>G	15.37:g.81605705G>C							p.T178T	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN			6	559	-			178			START.		P59094	Silent	SNP	ENST00000302824.6	37	c.534C>G	CCDS10318.1																																																																																				0.557	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			22	96	0	0	0	1	0	22	96				
CUBN	8029	broad.mit.edu	37	10	17032492	17032492	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:17032492C>T	ENST00000377833.4	-	29	4256	c.4191G>A	c.(4189-4191)ggG>ggA	p.G1397G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1397	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTGTGGCCCCAGACAGCT	0.507																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(4189-4191)ggG>ggA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63.0	65.0	64.0					10																	17032492		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17032492C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4191G>A	10.37:g.17032492C>T							p.G1397G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			29	4256	-			1397			CUB 9.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.4191G>A	CCDS7113.1																																																																																				0.507	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	61	0	0	0	1	0	4	61				
USH2A	7399	broad.mit.edu	37	1	216424251	216424251	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:216424251C>T	ENST00000307340.3	-	12	2547	c.2161G>A	c.(2161-2163)Gtt>Att	p.V721I	USH2A_ENST00000366942.3_Missense_Mutation_p.V721I|USH2A_ENST00000366943.2_Missense_Mutation_p.V721I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	721	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACCAATAACGTTTGCTTTG	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2161-2163)Gtt>Att		Usher syndrome 2A (autosomal recessive, mild)							138.0	127.0	131.0					1																	216424251		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216424251C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2161G>A	1.37:g.216424251C>T	ENSP00000305941:p.Val721Ile	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.V721I|USH2A_ENST00000307340.3_Missense_Mutation_p.V721I	p.V721I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	12	2547	-			721			Laminin EGF-like 4.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2161G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999242	0.54147	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.64991	-0.13;-0.13;-0.13	5.26	5.26	0.73747	EGF-like, laminin (4);	0.000000	0.39544	N	0.001331	T	0.78220	0.4249	M	0.83012	2.62	0.44966	D	0.997989	D;D	0.76494	0.997;0.999	P;D	0.63113	0.706;0.911	T	0.81393	-0.0953	10	0.66056	D	0.02	.	13.7866	0.63112	0.1534:0.8466:0.0:0.0	.	721;721	O75445-2;O75445	.;USH2A_HUMAN	I	721	ENSP00000305941:V721I;ENSP00000355910:V721I;ENSP00000355909:V721I	ENSP00000305941:V721I	V	-	1	0	USH2A	214490874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.463000	0.83235	0.655000	0.94253	GTT		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	27	0	0	0	1	0	5	27				
OR4C6	219432	broad.mit.edu	37	11	55432661	55432661	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:55432661G>T	ENST00000314259.3	+	1	48	c.19G>T	c.(19-21)Gtg>Ttg	p.V7L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCAAAACAATGTGACTGAATT	0.363																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(19-21)Gtg>Ttg		olfactory receptor, family 4, subfamily C, member 6							100.0	96.0	97.0					11																	55432661		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432661G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.19G>T	11.37:g.55432661G>T	ENSP00000324769:p.Val7Leu						p.V7L	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	48	+			7					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.19G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	8.688	0.906675	0.17833	.	.	ENSG00000181903	ENST00000314259	T	0.00832	5.64	3.83	3.83	0.44106	.	1.040430	0.07706	N	0.941216	T	0.02119	0.0066	M	0.76170	2.325	0.09310	N	0.999998	B	0.19073	0.033	B	0.24006	0.05	T	0.38950	-0.9637	10	0.72032	D	0.01	.	8.4689	0.32973	0.1122:0.0:0.8878:0.0	.	7	Q8NH72	OR4C6_HUMAN	L	7	ENSP00000324769:V7L	ENSP00000324769:V7L	V	+	1	0	OR4C6	55189237	0.000000	0.05858	0.993000	0.49108	0.060000	0.15804	0.199000	0.17237	1.698000	0.51180	0.543000	0.68304	GTG		0.363	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		18	97	1	0	5.3912e-06	1	5.72067e-06	18	97				
CTAGE9	643854	broad.mit.edu	37	6	132032136	132032136	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:132032136G>A	ENST00000314099.8	-	1	70	c.22C>T	c.(22-24)Cct>Tct	p.P8S	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	8						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TAGGGCTGAGGGGTAGCACCA	0.587																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(22-24)Cct>Tct		CTAGE family, member 9							58.0	101.0	91.0					6																	132032136		476	1571	2047	SO:0001583	missense	643854					integral to membrane		g.chr6:132032136G>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.22C>T	6.37:g.132032136G>A	ENSP00000395587:p.Pro8Ser					ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	p.P8S	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	70	-			8						Missense_Mutation	SNP	ENST00000314099.8	37	c.22C>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	3.908	-0.020759	0.07634	.	.	ENSG00000236761	ENST00000314099	T	0.08370	3.1	.	.	.	.	.	.	.	.	T	0.02304	0.0071	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.43343	-0.9397	6	0.41790	T	0.15	.	.	.	.	.	8	A4FU28	CTGE9_HUMAN	S	8	ENSP00000395587:P8S	ENSP00000395587:P8S	P	-	1	0	CTAGE9	132073829	0.475000	0.25894	.	.	.	.	-0.731000	0.04909	.	.	.	.	CCT		0.587	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		8	38	0	0	0	1	0	8	38				
RUNDC3B	154661	broad.mit.edu	37	7	87369146	87369146	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:87369146A>T	ENST00000338056.3	+	6	960	c.549A>T	c.(547-549)gaA>gaT	p.E183D	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E166D|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E166D	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	183	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGGGTGAAGAAGCAAATATGC	0.303																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(547-549)gaA>gaT		RUN domain containing 3B							64.0	64.0	64.0					7																	87369146		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87369146A>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.549A>T	7.37:g.87369146A>T	ENSP00000337732:p.Glu183Asp					RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E166D|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E166D	p.E183D	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			6	960	+	Esophageal squamous(14;0.00164)		183			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.549A>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910759	0.72983	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.14391	2.51;2.51;2.51	4.79	2.34	0.29019	RUN (3);	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.55213	1.73	0.58432	D	0.999994	D;D;D;D;D	0.69078	0.997;0.997;0.99;0.99;0.972	D;D;D;D;P	0.79108	0.992;0.992;0.98;0.98;0.836	T	0.00466	-1.1722	10	0.54805	T	0.06	-13.0611	8.2313	0.31599	0.8282:0.0:0.1718:0.0	.	166;166;88;166;183	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	D	183;166;166	ENSP00000337732:E183D;ENSP00000420394:E166D;ENSP00000378149:E166D	ENSP00000337732:E183D	E	+	3	2	RUNDC3B	87207082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.282000	0.43461	0.195000	0.20347	0.377000	0.23210	GAA		0.303	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		13	34	0	0	0	1	0	13	34				
SFRP1	6422	broad.mit.edu	37	8	41164294	41164294	+	Intron	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:41164294G>A	ENST00000220772.3	-	1	882				SFRP1_ENST00000379845.3_Missense_Mutation_p.S28L	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1						bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			AAGCCAGGCTGAGAAGGGCGC	0.582																																						ENST00000379845.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(82-84)tCa>tTa		secreted frizzled-related protein 1							30.0	29.0	29.0					8																	41164294		876	1991	2867	SO:0001627	intron_variant	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41164294G>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.544+1840C>T	8.37:g.41164294G>A						SFRP1_ENST00000220772.3_Intron	p.S28L			Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	215	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	0					O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	37	c.83C>T	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991397	0.35131	.	.	ENSG00000104332	ENST00000379845	.	.	.	4.3	-8.61	0.00885	.	.	.	.	.	T	0.28995	0.0720	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.37174	-0.9717	5	0.87932	D	0	.	1.476	0.02426	0.5115:0.1756:0.1281:0.1848	.	.	.	.	L	28	.	ENSP00000369174:S28L	S	-	2	0	SFRP1	41283451	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.656000	0.00854	-3.200000	0.00217	-0.310000	0.09108	TCA		0.582	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		5	20	0	0	0	1	0	5	20				
HDAC5	10014	broad.mit.edu	37	17	42168666	42168666	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:42168666C>T	ENST00000393622.2	-	11	1690	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	HDAC5_ENST00000586802.1_Silent_p.Q453Q|HDAC5_ENST00000336057.5_Silent_p.Q453Q|HDAC5_ENST00000225983.6_Silent_p.Q454Q	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	453					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCTGCCGGGCCTGCTCCAGCA	0.642																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(1360-1362)caG>caA		histone deacetylase 5							24.0	23.0	23.0					17																	42168666		2202	4297	6499	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42168666C>T	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1359G>A	17.37:g.42168666C>T						HDAC5_ENST00000336057.5_Silent_p.Q453Q|HDAC5_ENST00000586802.1_Silent_p.Q453Q|HDAC5_ENST00000393622.2_Silent_p.Q453Q	p.Q454Q			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	11	1685	-		Breast(137;0.00637)|Prostate(33;0.0313)	453					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.1362G>A	CCDS45696.1																																																																																				0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		8	24	0	0	0	1	0	8	24				
LRRK1	79705	broad.mit.edu	37	15	101562619	101562619	+	Silent	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:101562619T>C	ENST00000388948.3	+	15	2243	c.1884T>C	c.(1882-1884)gcT>gcC	p.A628A	LRRK1_ENST00000284395.5_Silent_p.A625A	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTGCGTGCTCAGCTGCGGA	0.547																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(1873-1875)gcT>gcC		leucine-rich repeat kinase 1							103.0	108.0	106.0					15																	101562619		2010	4183	6193	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101562619T>C	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1884T>C	15.37:g.101562619T>C						LRRK1_ENST00000388948.3_Silent_p.A628A	p.A625A			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		16	2275	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		628						Silent	SNP	ENST00000388948.3	37	c.1875T>C	CCDS42086.1																																																																																				0.547	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		27	88	0	0	0	1	0	27	88				
PRDM16	63976	broad.mit.edu	37	1	3102852	3102852	+	Silent	SNP	G	G	A	rs199614349	byFrequency	TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:3102852G>A	ENST00000270722.5	+	2	250	c.201G>A	c.(199-201)ccG>ccA	p.P67P	PRDM16_ENST00000441472.2_Silent_p.P67P|PRDM16_ENST00000442529.2_Silent_p.P67P|PRDM16_ENST00000514189.1_Silent_p.P67P|PRDM16_ENST00000378398.3_Silent_p.P67P|PRDM16_ENST00000511072.1_Silent_p.P67P|PRDM16_ENST00000378391.2_Silent_p.P67P			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	67					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGGCTCGCCGTACGAGGCCC	0.672			T	EVI1	"""MDS, AML"""								G|||	6	0.00119808	0.0	0.0029	5008	,	,		14984	0.0		0.003	False		,,,				2504	0.001					ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(199-201)ccG>ccA		PR domain containing 16		G	,	0,4074		0,0,2037	49.0	60.0	56.0		201,201	-2.7	1.0	1		56	24,8284		0,24,4130	no	coding-synonymous,coding-synonymous	PRDM16	NM_022114.3,NM_199454.2	,	0,24,6167	AA,AG,GG		0.2889,0.0,0.1938	,	67/1277,67/1258	3102852	24,12358	2037	4154	6191	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3102852G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.201G>A	1.37:g.3102852G>A						PRDM16_ENST00000442529.2_Silent_p.P67P|PRDM16_ENST00000441472.2_Silent_p.P67P|PRDM16_ENST00000378391.2_Silent_p.P67P|PRDM16_ENST00000270722.5_Silent_p.P67P|PRDM16_ENST00000514189.1_Silent_p.P67P|PRDM16_ENST00000511072.1_Silent_p.P67P	p.P67P			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	2	283	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	67					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.201G>A	CCDS41236.2																																																																																				0.672	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		5	126	0	0	0	1	0	5	126				
USP13	8975	broad.mit.edu	37	3	179439191	179439191	+	Splice_Site	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:179439191C>T	ENST00000263966.3	+	8	1373	c.902C>T	c.(901-903)aCa>aTa	p.T301I	USP13_ENST00000496897.1_Splice_Site_p.T236I|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	301					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTGTCTCAGACAGAGAATGGG	0.453																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.e8-1		ubiquitin specific peptidase 13 (isopeptidase T-3)							91.0	84.0	86.0					3																	179439191		2203	4300	6503	SO:0001630	splice_region_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179439191C>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.901-1C>T	3.37:g.179439191C>T						USP13_ENST00000496897.1_Splice_Site_p.T236_splice|USP13_ENST00000482333.1_3'UTR	p.T301_splice	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		8	1373	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		301					A8K2S3|B4DYF3|D3DNS2|Q96B25	Splice_Site	SNP	ENST00000263966.3	37	c.900_splice	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164849	0.57476	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.20069	2.1;2.11	6.03	6.03	0.97812	.	0.047740	0.85682	D	0.000000	T	0.32763	0.0840	M	0.90145	3.09	0.53005	D	0.999964	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.28396	-1.0045	10	0.72032	D	0.01	-17.5144	10.2559	0.43397	0.0:0.7932:0.1366:0.0702	.	301;301	Q92995;A8K2S3	UBP13_HUMAN;.	I	301;236	ENSP00000263966:T301I;ENSP00000417146:T236I	ENSP00000263966:T301I	T	+	2	0	USP13	180921885	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.858000	0.62947	2.854000	0.98071	0.655000	0.94253	ACA		0.453	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		Missense_Mutation	19	295	0	0	0	1	0	19	295				
TNR	7143	broad.mit.edu	37	1	175355182	175355182	+	Missense_Mutation	SNP	G	G	C	rs553876411		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:175355182G>C	ENST00000367674.2	-	8	2471	c.1763C>G	c.(1762-1764)aCt>aGt	p.T588S	TNR_ENST00000263525.2_Missense_Mutation_p.T588S			Q92752	TENR_HUMAN	tenascin R	588	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTGAACTGAGTGGTGGCAGA	0.602																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1762-1764)aCt>aGt		tenascin R							102.0	94.0	97.0					1																	175355182		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355182G>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1763C>G	1.37:g.175355182G>C	ENSP00000356646:p.Thr588Ser					TNR_ENST00000263525.2_Missense_Mutation_p.T588S	p.T588S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			8	2471	-	Renal(580;0.146)		588			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1763C>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	9.766	1.171352	0.21621	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.04809	3.55;3.55	5.58	4.66	0.58398	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.110454	0.64402	N	0.000010	T	0.07818	0.0196	M	0.66939	2.045	0.42527	D	0.993021	B	0.32382	0.368	B	0.28385	0.089	T	0.18429	-1.0337	10	0.25106	T	0.35	.	16.1259	0.81395	0.0:0.1342:0.8658:0.0	.	588	Q92752	TENR_HUMAN	S	588	ENSP00000356646:T588S;ENSP00000263525:T588S	ENSP00000263525:T588S	T	-	2	0	TNR	173621805	1.000000	0.71417	0.848000	0.33437	0.006000	0.05464	7.056000	0.76662	1.327000	0.45338	-0.182000	0.12963	ACT		0.602	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		29	142	0	0	0	1	0	29	142				
ZNF33B	7582	broad.mit.edu	37	10	43088925	43088925	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:43088925G>A	ENST00000359467.3	-	5	1587	c.1473C>T	c.(1471-1473)caC>caT	p.H491H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATCTCCTATGTGAGTTCTCT	0.398																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1471-1473)caC>caT		zinc finger protein 33B							98.0	92.0	94.0					10																	43088925		2203	4299	6502	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088925G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1473C>T	10.37:g.43088925G>A						ZNF33B_ENST00000486187.1_RNA	p.H491H	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1587	-			491					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1473C>T	CCDS7198.1																																																																																				0.398	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		12	76	0	0	0	1	0	12	76				
UNC5C	8633	broad.mit.edu	37	4	96469913	96469913	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:96469913G>A	ENST00000453304.1	-	1	444	c.96C>T	c.(94-96)agC>agT	p.S32S	RP11-710C12.1_ENST00000605849.1_RNA|UNC5C_ENST00000506749.1_Silent_p.S32S|UNC5C_ENST00000504962.1_Silent_p.S32S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	32					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCCGCTGGCGCTGAGCAGGG	0.667																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(94-96)agC>agT		unc-5 homolog C (C. elegans)							32.0	36.0	35.0					4																	96469913		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96469913G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.96C>T	4.37:g.96469913G>A						UNC5C_ENST00000506749.1_Silent_p.S32S|UNC5C_ENST00000504962.1_Silent_p.S32S	p.S32S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	1	444	-		Hepatocellular(203;0.114)	32					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.96C>T	CCDS3643.1																																																																																				0.667	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		11	37	0	0	0	1	0	11	37				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	21	0	0	0	1	0	31	21				
NIPBL	25836	broad.mit.edu	37	5	37020601	37020601	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:37020601C>G	ENST00000282516.8	+	26	5550	c.5051C>G	c.(5050-5052)aCa>aGa	p.T1684R	NIPBL_ENST00000448238.2_Missense_Mutation_p.T1684R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1684					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCGAGACACAACTCTGGAA	0.353																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(5050-5052)aCa>aGa		Nipped-B homolog (Drosophila)							79.0	75.0	76.0					5																	37020601		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37020601C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5051C>G	5.37:g.37020601C>G	ENSP00000282516:p.Thr1684Arg					NIPBL_ENST00000448238.2_Missense_Mutation_p.T1684R	p.T1684R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		26	5550	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1684					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.5051C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745895	0.89663	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93604	-3.25;-3.25	5.68	5.68	0.88126	Armadillo-type fold (1);	0.253854	0.36519	N	0.002546	D	0.95465	0.8527	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.994;0.996	P;P	0.62184	0.795;0.899	D	0.94896	0.8052	10	0.49607	T	0.09	.	19.7958	0.96481	0.0:1.0:0.0:0.0	.	1684;1684	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	R	1684	ENSP00000282516:T1684R;ENSP00000406266:T1684R	ENSP00000282516:T1684R	T	+	2	0	NIPBL	37056358	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.693000	0.68264	2.695000	0.91970	0.650000	0.86243	ACA		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		29	117	0	0	0	1	0	29	117				
FGFR4	2264	broad.mit.edu	37	5	176520484	176520484	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:176520484C>T	ENST00000292408.4	+	10	1574	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	FGFR4_ENST00000393648.2_Missense_Mutation_p.P392L|FGFR4_ENST00000393637.1_Silent_p.P403P|FGFR4_ENST00000502906.1_Silent_p.P443P|FGFR4_ENST00000292410.3_Silent_p.P403P	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	443					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CCAGCGGCCCCGCCTTGCTCG	0.642										TSP Lung(9;0.080)																												ENST00000393648.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1174-1176)cCg>cTg		fibroblast growth factor receptor 4	Palifermin(DB00039)						71.0	76.0	74.0					5																	176520484		2202	4300	6502	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520484C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1329C>T	5.37:g.176520484C>T		TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Silent_p.P403P|FGFR4_ENST00000292408.4_Silent_p.P443P|FGFR4_ENST00000292410.3_Silent_p.P403P|FGFR4_ENST00000502906.1_Silent_p.P443P	p.P392L			P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1357	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	40					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1175C>T	CCDS4410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.042|0.042	-1.278763|-1.278763	0.01410|0.01410	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000393648|ENST00000511076	T|.	0.78595|.	-1.19|.	4.44|4.44	-5.46|-5.46	0.02608|0.02608	.|.	0.175407|.	0.51477|.	D|.	0.000083|.	T|T	0.47097|0.47097	0.1427|0.1427	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.44251|0.44251	-0.9340|-0.9340	9|4	0.87932|.	D|.	0|.	.|.	6.3696|6.3696	0.21473|0.21473	0.0:0.3436:0.2226:0.4339|0.0:0.3436:0.2226:0.4339	.|.	392|.	B4DVP5|.	.|.	L|C	392|75	ENSP00000377259:P392L|.	ENSP00000377259:P392L|.	P|R	+|+	2|1	0|0	FGFR4|FGFR4	176453090|176453090	0.000000|0.000000	0.05858|0.05858	0.640000|0.640000	0.29408|0.29408	0.121000|0.121000	0.20230|0.20230	-2.415000|-2.415000	0.01036|0.01036	-1.765000|-1.765000	0.01303|0.01303	-0.263000|-0.263000	0.10527|0.10527	CCG|CGC		0.642	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			26	117	0	0	0	1	0	26	117				
MAP3K14	9020	broad.mit.edu	37	17	43367874	43367874	+	RNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr17:43367874T>C	ENST00000344686.2	-	0	346							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGCGATGATAGAGATGGCA	0.622																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							56.0	60.0	59.0					17																	43367874		2015	4171	6186			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43367874T>C	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43367874T>C										Q99558	M3K14_HUMAN			0	346	-								A8K2D8|D3DX67|Q8IYN1	RNA	SNP	ENST00000344686.2	37			.	.	.	.	.	.	.	.	.	.	T	18.50	3.638302	0.67130	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.78432	0.4282	.	.	.	0.29502	N	0.85488	D	0.59357	0.985	D	0.67548	0.952	D	0.83628	0.0143	7	0.87932	D	0	.	14.0835	0.64939	0.0:0.0:0.0:1.0	.	80	Q99558	M3K14_HUMAN	V	80	.	ENSP00000342059:I80V	I	-	1	0	MAP3K14	40723657	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	5.178000	0.65037	2.263000	0.75096	0.379000	0.24179	ATC		0.622	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		18	13	0	0	0	1	0	18	13				
CCT8L2	150160	broad.mit.edu	37	22	17071915	17071915	+	Missense_Mutation	SNP	T	T	C	rs565967987		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:17071915T>C	ENST00000359963.3	-	1	1785	c.1526A>G	c.(1525-1527)gAg>gGg	p.E509G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	509					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAGCACCACCTCAGCCACTGC	0.488													t|||	1	0.000199681	0.0	0.0	5008	,	,		18572	0.0		0.001	False		,,,				2504	0.0					ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1525-1527)gAg>gGg		chaperonin containing TCP1, subunit 8 (theta)-like 2							98.0	92.0	94.0					22																	17071915		2203	4297	6500	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071915T>C	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1526A>G	22.37:g.17071915T>C	ENSP00000353048:p.Glu509Gly						p.E509G	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1785	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	509					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1526A>G	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	t	0.450	-0.894367	0.02491	.	.	ENSG00000198445	ENST00000359963	D	0.82081	-1.57	1.98	1.98	0.26296	.	0.406771	0.17491	N	0.172324	T	0.74959	0.3785	L	0.31294	0.92	0.24583	N	0.993864	B	0.30563	0.285	B	0.40477	0.33	T	0.64964	-0.6283	10	0.40728	T	0.16	-7.1095	5.9203	0.19078	0.0:0.0:0.0:1.0	.	509	Q96SF2	TCPQM_HUMAN	G	509	ENSP00000353048:E509G	ENSP00000353048:E509G	E	-	2	0	CCT8L2	15451915	0.165000	0.22948	0.158000	0.22627	0.398000	0.30690	3.036000	0.49767	0.922000	0.37019	0.312000	0.20444	GAG		0.488	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			25	111	0	0	0	1	0	25	111				
CENPL	91687	broad.mit.edu	37	1	173776424	173776424	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:173776424G>A	ENST00000345664.6	-	3	614	c.401C>T	c.(400-402)cCg>cTg	p.P134L	Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000356198.2_Missense_Mutation_p.P134L|CENPL_ENST00000367710.3_Missense_Mutation_p.P134L	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	134					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAATGCTTCCGGGTCCCTTTG	0.363																																						ENST00000356198.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(400-402)cCg>cTg		centromere protein L							60.0	65.0	63.0					1																	173776424		2203	4300	6503	SO:0001583	missense	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173776424G>A	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.401C>T	1.37:g.173776424G>A	ENSP00000323543:p.Pro134Leu					CENPL_ENST00000345664.6_Missense_Mutation_p.P134L|CENPL_ENST00000367710.3_Missense_Mutation_p.P134L	p.P134L	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN			4	686	-			134					Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	37	c.401C>T	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170657	0.38315	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.46451	1.41;0.87;0.87	5.87	4.95	0.65309	.	0.246841	0.40302	N	0.001125	T	0.33760	0.0874	L	0.59436	1.845	0.45403	D	0.998384	D;P	0.59767	0.986;0.555	P;B	0.46275	0.51;0.023	T	0.32981	-0.9886	10	0.66056	D	0.02	-1.3267	14.0994	0.65044	0.0:0.0:0.7283:0.2717	.	134;134	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	L	134	ENSP00000348527:P134L;ENSP00000323543:P134L;ENSP00000356683:P134L	ENSP00000323543:P134L	P	-	2	0	CENPL	172043047	0.998000	0.40836	0.269000	0.24586	0.643000	0.38383	3.921000	0.56454	1.600000	0.50102	0.655000	0.94253	CCG		0.363	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		6	35	0	0	0	1	0	6	35				
ZFHX4	79776	broad.mit.edu	37	8	77617817	77617817	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:77617817A>C	ENST00000521891.2	+	2	1942	c.1494A>C	c.(1492-1494)aaA>aaC	p.K498N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K498N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K498N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K498N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGTAACAAAGATTTCCCTC	0.428										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1492-1494)aaA>aaC		zinc finger homeobox 4							48.0	48.0	48.0					8																	77617817		1949	4146	6095	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617817A>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1494A>C	8.37:g.77617817A>C	ENSP00000430497:p.Lys498Asn	HNSCC(33;0.089)				ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K498N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K498N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K498N	p.K498N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1942	+			498					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1494A>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	10.05	1.243437	0.22796	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.47;0.49;0.46;0.46	5.65	5.65	0.86999	.	0.000000	0.47455	U	0.000231	T	0.43299	0.1241	L	0.36672	1.1	0.80722	D	1	B;P;P;P	0.46912	0.355;0.734;0.734;0.886	B;B;B;B	0.37267	0.1;0.203;0.203;0.245	T	0.50825	-0.8782	10	0.72032	D	0.01	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	498;498;498;498	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	N	498	ENSP00000430497:K498N;ENSP00000399605:K498N;ENSP00000050961:K498N;ENSP00000430848:K498N	ENSP00000050961:K498N	K	+	3	2	ZFHX4	77780372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.971000	0.76105	2.371000	0.80710	0.533000	0.62120	AAA		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	23	0	0	0	1	0	7	23				
STK31	56164	broad.mit.edu	37	7	23826205	23826205	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:23826205G>A	ENST00000355870.3	+	19	2472	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	STK31_ENST00000433467.2_Missense_Mutation_p.E785K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E762K|STK31_ENST00000354639.3_Missense_Mutation_p.E762K	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	785	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGAGAAGCTGAAGGAGACTC	0.423																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2284-2286)Gaa>Aaa		serine/threonine kinase 31							124.0	114.0	117.0					7																	23826205		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23826205G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2353G>A	7.37:g.23826205G>A	ENSP00000348132:p.Glu785Lys					STK31_ENST00000355870.3_Missense_Mutation_p.E785K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E785K|STK31_ENST00000428484.1_Missense_Mutation_p.E762K	p.E762K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			19	2748	+			785			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2284G>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	2.700	-0.271096	0.05716	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.67171	-0.25;2.18;-0.25;-0.25	5.17	4.02	0.46733	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.258871	0.37857	N	0.001901	T	0.22085	0.0532	N	0.00159	-1.955	0.22896	N	0.998592	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37526	-0.9702	10	0.02654	T	1	-5.6414	8.6783	0.34191	0.9094:0.0:0.0906:0.0	.	785;785	B4DZ06;Q9BXU1	.;STK31_HUMAN	K	785;785;762;762	ENSP00000348132:E785K;ENSP00000411852:E785K;ENSP00000346660:E762K;ENSP00000406146:E762K	ENSP00000346660:E762K	E	+	1	0	STK31	23792730	0.967000	0.33354	0.962000	0.40283	0.836000	0.47400	3.048000	0.49862	0.819000	0.34492	-0.350000	0.07774	GAA		0.423	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		22	36	0	0	0	1	0	22	36				
NDST4	64579	broad.mit.edu	37	4	115997421	115997421	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:115997421G>T	ENST00000264363.2	-	2	1450	c.772C>A	c.(772-774)Cag>Aag	p.Q258K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	258	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCCAGATCCTGAATCACCGTT	0.408																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(772-774)Cag>Aag		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							160.0	152.0	155.0					4																	115997421		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997421G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.772C>A	4.37:g.115997421G>T	ENSP00000264363:p.Gln258Lys						p.Q258K	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1450	-		Ovarian(17;0.156)	258			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.772C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525112	0.64747	.	.	ENSG00000138653	ENST00000264363	T	0.37058	1.22	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56441	0.1985	M	0.86805	2.84	0.80722	D	1	P	0.34462	0.454	B	0.43155	0.41	T	0.59273	-0.7485	10	0.46703	T	0.11	.	19.5505	0.95315	0.0:0.0:1.0:0.0	.	258	Q9H3R1	NDST4_HUMAN	K	258	ENSP00000264363:Q258K	ENSP00000264363:Q258K	Q	-	1	0	NDST4	116216870	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.803000	0.99136	2.610000	0.88304	0.591000	0.81541	CAG		0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		26	91	1	0	1.64293e-13	1	1.81387e-13	26	91				
KMT2C	58508	broad.mit.edu	37	7	151849830	151849830	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:151849830C>T	ENST00000262189.6	-	49	12704	c.12486G>A	c.(12484-12486)cgG>cgA	p.R4162R	KMT2C_ENST00000355193.2_Silent_p.R4219R|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4162					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTGCTTCAGCCGGTAAGAGC	0.483																																						ENST00000355193.2																			0											c.(12655-12657)cgG>cgA		lysine (K)-specific methyltransferase 2C							118.0	108.0	111.0					7																	151849830		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151849830C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12486G>A	7.37:g.151849830C>T						KMT2C_ENST00000262189.6_Silent_p.R4162R	p.R4219R							50	12875	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.12657G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296111	0.23650	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.71	2.46	0.29980	.	.	.	.	.	T	0.46678	0.1405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32666	-0.9898	4	.	.	.	.	3.8741	0.09048	0.1503:0.5433:0.169:0.1374	.	.	.	.	T	1723	.	.	A	-	1	0	MLL3	151480763	0.986000	0.35501	0.987000	0.45799	0.983000	0.72400	0.140000	0.16056	0.737000	0.32582	0.650000	0.86243	GCT		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	136	0	0	0	1	0	4	136				
CACNA1S	779	broad.mit.edu	37	1	201008964	201008964	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:201008964G>T	ENST00000362061.3	-	44	5843	c.5617C>A	c.(5617-5619)Ctg>Atg	p.L1873M	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1854M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1873					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCATCACAGCCTTGGAGGA	0.637																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(5617-5619)Ctg>Atg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						68.0	65.0	66.0					1																	201008964		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201008964G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5617C>A	1.37:g.201008964G>T	ENSP00000355192:p.Leu1873Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1854M|RP11-168O16.2_ENST00000415359.1_RNA	p.L1873M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			44	5843	-			1873					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.5617C>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	15.88	2.964583	0.53507	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96334	-3.98;-3.9	4.66	2.68	0.31781	.	.	.	.	.	D	0.93805	0.8019	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	D	0.87451	0.2401	9	0.87932	D	0	.	10.531	0.44977	0.0:0.0:0.6486:0.3514	.	1873	Q13698	CAC1S_HUMAN	M	1873;1854	ENSP00000355192:L1873M;ENSP00000356307:L1854M	ENSP00000355192:L1873M	L	-	1	2	CACNA1S	199275587	0.032000	0.19561	0.155000	0.22561	0.917000	0.54804	2.119000	0.41958	0.338000	0.23692	0.404000	0.27445	CTG		0.637	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		29	52	1	0	9.80776e-20	1	1.10193e-19	29	52				
ABCA13	154664	broad.mit.edu	37	7	48545978	48545978	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:48545978G>A	ENST00000435803.1	+	49	13362	c.13338G>A	c.(13336-13338)aaG>aaA	p.K4446K	ABCA13_ENST00000544596.1_Silent_p.K176K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4446				K -> E (in Ref. 1; AAP13576 and 5; AAO59914). {ECO:0000305}.	transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTGAACAAGGACAAGATGT	0.458																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13336-13338)aaG>aaA		ATP-binding cassette, sub-family A (ABC1), member 13							129.0	133.0	132.0					7																	48545978		2121	4232	6353	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48545978G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13338G>A	7.37:g.48545978G>A						ABCA13_ENST00000544596.1_Silent_p.K176K	p.K4446K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			49	13362	+			4446	K -> E (in Ref. 1; AAP13576 and 4; AAO59914).				K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.13338G>A	CCDS47584.1																																																																																				0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		22	41	0	0	0	1	0	22	41				
SORBS1	10580	broad.mit.edu	37	10	97144014	97144014	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:97144014T>A	ENST00000361941.3	-	14	1415	c.1389A>T	c.(1387-1389)agA>agT	p.R463S	SORBS1_ENST00000371241.1_Missense_Mutation_p.R253S|SORBS1_ENST00000371247.2_Missense_Mutation_p.R463S|SORBS1_ENST00000607232.1_Missense_Mutation_p.R252S|SORBS1_ENST00000371227.4_Missense_Mutation_p.R417S|SORBS1_ENST00000347291.4_Missense_Mutation_p.R331S|SORBS1_ENST00000277982.5_Missense_Mutation_p.R485S|SORBS1_ENST00000371249.2_Missense_Mutation_p.R385S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.R433S|SORBS1_ENST00000306402.6_Missense_Mutation_p.R294S|SORBS1_ENST00000371246.2_Missense_Mutation_p.R485S|SORBS1_ENST00000371245.3_Missense_Mutation_p.R348S|SORBS1_ENST00000371239.1_Missense_Mutation_p.R262S|SORBS1_ENST00000353505.5_Missense_Mutation_p.R348S|SORBS1_ENST00000393949.1_Missense_Mutation_p.R433S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAAATGAGTATCTGGGAGAGT	0.423																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1387-1389)agA>agT		sorbin and SH3 domain containing 1							110.0	101.0	104.0					10																	97144014		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97144014T>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1389A>T	10.37:g.97144014T>A	ENSP00000355136:p.Arg463Ser					SORBS1_ENST00000306402.6_Missense_Mutation_p.R294S|SORBS1_ENST00000371246.2_Missense_Mutation_p.R485S|SORBS1_ENST00000361941.3_Missense_Mutation_p.R463S|SORBS1_ENST00000371241.1_Missense_Mutation_p.R253S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Missense_Mutation_p.R262S|SORBS1_ENST00000607232.1_Missense_Mutation_p.R252S|SORBS1_ENST00000277982.5_Missense_Mutation_p.R485S|SORBS1_ENST00000371227.4_Missense_Mutation_p.R417S|SORBS1_ENST00000371249.2_Missense_Mutation_p.R385S|SORBS1_ENST00000371245.3_Missense_Mutation_p.R348S|SORBS1_ENST00000393949.1_Missense_Mutation_p.R433S|SORBS1_ENST00000353505.5_Missense_Mutation_p.R348S|SORBS1_ENST00000347291.4_Missense_Mutation_p.R331S|SORBS1_ENST00000354106.3_Missense_Mutation_p.R433S	p.R463S			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	16	1578	-		Colorectal(252;0.0429)	463			SoHo.			Missense_Mutation	SNP	ENST00000361941.3	37	c.1389A>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.261937	0.23051	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;3.21;1.61;2.63;3.04;1.61;2.94;3.21;2.63;1.61;3.04;1.61	6.07	-4.25	0.03766	Sorbin-like (1);	0.000000	0.35838	N	0.002949	T	0.18215	0.0437	L	0.27053	0.805	0.44862	D	0.997874	B;D;B;B;B;B;B;B;B;B;B;B;B	0.59357	0.264;0.985;0.073;0.007;0.004;0.016;0.019;0.013;0.044;0.036;0.013;0.036;0.028	B;P;B;B;B;B;B;B;B;B;B;B;B	0.50314	0.057;0.637;0.06;0.016;0.004;0.02;0.02;0.009;0.045;0.061;0.009;0.044;0.007	T	0.32455	-0.9906	10	0.40728	T	0.16	-8.8009	0.5057	0.00587	0.2189:0.2751:0.2049:0.301	.	615;262;417;385;294;253;262;348;463;485;331;433;41	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	S	348;294;385;463;417;485;433;348;331;463;485;253;433;262	ENSP00000360291:R348S;ENSP00000302556:R294S;ENSP00000360295:R385S;ENSP00000360293:R463S;ENSP00000360271:R417S;ENSP00000360292:R485S;ENSP00000377521:R433S;ENSP00000343998:R348S;ENSP00000277985:R331S;ENSP00000355136:R463S;ENSP00000277982:R485S;ENSP00000360285:R253S;ENSP00000277984:R433S;ENSP00000360283:R262S	ENSP00000277982:R485S	R	-	3	2	SORBS1	97134004	0.973000	0.33851	0.976000	0.42696	0.978000	0.69477	-0.051000	0.11885	-0.629000	0.05575	0.533000	0.62120	AGA		0.423	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			16	77	0	0	0	1	0	16	77				
ZC3H7B	23264	broad.mit.edu	37	22	41751979	41751979	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:41751979G>A	ENST00000352645.4	+	20	2553	c.2296G>A	c.(2296-2298)Ggc>Agc	p.G766S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G766S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	782					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCACAGAACGGCCGCAAGTG	0.617																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2296-2298)Ggc>Agc		zinc finger CCCH-type containing 7B							56.0	47.0	50.0					22																	41751979		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41751979G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2296G>A	22.37:g.41751979G>A	ENSP00000345793:p.Gly766Ser					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G766S	p.G766S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			20	2553	+			782					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.2296G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645339	0.87859	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.13196	2.61;2.61	5.18	5.18	0.71444	.	0.107006	0.64402	D	0.000004	T	0.27524	0.0676	L	0.55990	1.75	0.52099	D	0.999942	D	0.58970	0.984	P	0.53450	0.726	T	0.00880	-1.1529	10	0.56958	D	0.05	-16.5917	18.6849	0.91559	0.0:0.0:1.0:0.0	.	766	Q9UGR2-2	.	S	766	ENSP00000345793:G766S;ENSP00000263243:G766S	ENSP00000263243:G766S	G	+	1	0	ZC3H7B	40081925	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.120000	0.77153	2.410000	0.81850	0.561000	0.74099	GGC		0.617	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		19	14	0	0	0	1	0	19	14				
MYNN	55892	broad.mit.edu	37	3	169504378	169504378	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:169504378C>G	ENST00000349841.5	+	8	2408	c.1745C>G	c.(1744-1746)aCt>aGt	p.T582S	MYNN_ENST00000544106.1_Missense_Mutation_p.T553S|MYNN_ENST00000356716.4_Missense_Mutation_p.T582S	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTCACGGATACTCAGTCTCCT	0.398																																						ENST00000349841.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1744-1746)aCt>aGt		myoneurin							103.0	97.0	99.0					3																	169504378		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169504378C>G	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1745C>G	3.37:g.169504378C>G	ENSP00000326240:p.Thr582Ser					MYNN_ENST00000356716.4_Missense_Mutation_p.T582S|MYNN_ENST00000544106.1_Missense_Mutation_p.T553S	p.T582S	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		8	2408	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		582					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.1745C>G	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.117980	0.00349	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000544106	T;T;T	0.08720	3.27;3.27;3.06	5.25	-5.41	0.02648	.	0.532611	0.18661	N	0.134733	T	0.02012	0.0063	N	0.02539	-0.55	0.26335	N	0.977459	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40136	-0.9579	10	0.02654	T	1	.	9.312	0.37910	0.3008:0.1767:0.5225:0.0	.	553;582	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	S	582;582;553	ENSP00000349150:T582S;ENSP00000326240:T582S;ENSP00000440637:T553S	ENSP00000326240:T582S	T	+	2	0	MYNN	170987072	0.001000	0.12720	0.139000	0.22197	0.063000	0.16089	-0.336000	0.07863	-0.760000	0.04677	-0.479000	0.04858	ACT		0.398	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		12	233	0	0	0	1	0	12	233				
LARP4	113251	broad.mit.edu	37	12	50869524	50869524	+	Silent	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:50869524C>A	ENST00000398473.2	+	16	2164	c.2052C>A	c.(2050-2052)atC>atA	p.I684I	LARP4_ENST00000429001.3_Silent_p.I690I|LARP4_ENST00000293618.8_Silent_p.I613I|LARP4_ENST00000518444.1_Silent_p.I683I|LARP4_ENST00000347328.5_Silent_p.I613I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	684					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GCAATATAATCCCCAGGGGAG	0.488																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2050-2052)atC>atA		La ribonucleoprotein domain family, member 4							79.0	81.0	80.0					12																	50869524		1881	4115	5996	SO:0001819	synonymous_variant	113251						nucleotide binding|RNA binding	g.chr12:50869524C>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2052C>A	12.37:g.50869524C>A						LARP4_ENST00000347328.5_Silent_p.I613I|LARP4_ENST00000429001.3_Silent_p.I690I|LARP4_ENST00000518444.1_Silent_p.I683I|LARP4_ENST00000293618.8_Silent_p.I613I	p.I684I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			16	2164	+			684					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	37	c.2052C>A	CCDS41782.1																																																																																				0.488	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		61	92	1	0	2.14255e-21	1	2.43588e-21	61	92				
GREB1	9687	broad.mit.edu	37	2	11770105	11770105	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:11770105T>A	ENST00000381486.2	+	26	4781	c.4481T>A	c.(4480-4482)tTc>tAc	p.F1494Y	GREB1_ENST00000234142.5_Missense_Mutation_p.F1494Y|GREB1_ENST00000396123.1_Missense_Mutation_p.F492Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1494						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCTTTGCCTTCTCTTACTCC	0.592																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4480-4482)tTc>tAc		growth regulation by estrogen in breast cancer 1							129.0	130.0	130.0					2																	11770105		2116	4226	6342	SO:0001583	missense	9687					integral to membrane		g.chr2:11770105T>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4481T>A	2.37:g.11770105T>A	ENSP00000370896:p.Phe1494Tyr					GREB1_ENST00000234142.5_Missense_Mutation_p.F1494Y|GREB1_ENST00000396123.1_Missense_Mutation_p.F492Y	p.F1494Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	26	4781	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1494					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4481T>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138438	0.77775	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.54675	0.56;0.56;0.56	5.51	5.51	0.81932	.	0.045720	0.85682	D	0.000000	T	0.72028	0.3410	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.75147	-0.3420	10	0.59425	D	0.04	-42.5292	15.6154	0.76764	0.0:0.0:0.0:1.0	.	1494	Q4ZG55	GREB1_HUMAN	Y	1494;1494;492	ENSP00000370896:F1494Y;ENSP00000234142:F1494Y;ENSP00000379429:F492Y	ENSP00000234142:F1494Y	F	+	2	0	GREB1	11687556	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	7.563000	0.82314	2.092000	0.63282	0.496000	0.49642	TTC		0.592	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		16	57	0	0	0	1	0	16	57				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	178	0	0	0	1	0	4	178				
NUMA1	4926	broad.mit.edu	37	11	71730624	71730624	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:71730624T>C	ENST00000393695.3	-	9	831	c.500A>G	c.(499-501)gAg>gGg	p.E167G	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.E167G|NUMA1_ENST00000358965.6_Missense_Mutation_p.E167G	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGGGAGAGCTCTTCAGGGAA	0.483			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(499-501)gAg>gGg		nuclear mitotic apparatus protein 1							117.0	107.0	110.0					11																	71730624		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71730624T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.500A>G	11.37:g.71730624T>C	ENSP00000377298:p.Glu167Gly					NUMA1_ENST00000358965.6_Missense_Mutation_p.E167G|NUMA1_ENST00000351960.6_Missense_Mutation_p.E167G|RP11-849H4.4_ENST00000502284.1_RNA	p.E167G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			9	831	-			167						Missense_Mutation	SNP	ENST00000393695.3	37	c.500A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113570	0.56398	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009	T;T;T;T;T	0.52983	1.96;2.39;2.4;1.2;0.64	5.89	5.89	0.94794	.	0.145674	0.48767	D	0.000167	T	0.51975	0.1706	L	0.60455	1.87	0.36290	D	0.856324	P;B;B;P;B;B	0.50272	0.649;0.286;0.286;0.933;0.184;0.361	B;B;B;P;B;B	0.48654	0.283;0.287;0.287;0.585;0.098;0.244	T	0.60105	-0.7328	10	0.33141	T	0.24	.	13.8355	0.63406	0.0:0.0:0.0:1.0	.	167;167;167;167;167;167	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	G	167	ENSP00000260051:E167G;ENSP00000351851:E167G;ENSP00000377298:E167G;ENSP00000444880:E167G;ENSP00000442936:E167G	ENSP00000260051:E167G	E	-	2	0	NUMA1	71408272	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.766000	0.62279	2.254000	0.74563	0.459000	0.35465	GAG		0.483	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			56	93	0	0	0	1	0	56	93				
CLEC12B	387837	broad.mit.edu	37	12	10167141	10167141	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:10167141C>T	ENST00000338896.5	+	3	338	c.210C>T	c.(208-210)gaC>gaT	p.D70D	CLEC12B_ENST00000396502.1_Silent_p.D70D|RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TATCTAATGACATTAACTCAG	0.373																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(208-210)gaC>gaT		C-type lectin domain family 12, member B							66.0	63.0	64.0					12																	10167141		2203	4299	6502	SO:0001819	synonymous_variant	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167141C>T	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.210C>T	12.37:g.10167141C>T						CLEC12B_ENST00000338896.5_Silent_p.D70D	p.D70D	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			3	338	+			70					Q6UWF2|Q6ZRG0	Silent	SNP	ENST00000338896.5	37	c.210C>T	CCDS44830.1																																																																																				0.373	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		16	27	0	0	0	1	0	16	27				
C3	718	broad.mit.edu	37	19	6713237	6713237	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:6713237C>G	ENST00000245907.6	-	9	1058	c.966G>C	c.(964-966)aaG>aaC	p.K322N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	322					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGTACAAAGACTTCCCCACCA	0.617																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(964-966)aaG>aaC		complement component 3							60.0	54.0	56.0					19																	6713237		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6713237C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.966G>C	19.37:g.6713237C>G	ENSP00000245907:p.Lys322Asn						p.K322N	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	9	1058	-			322					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.966G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834834	0.32421	.	.	ENSG00000125730	ENST00000245907	T	0.33654	1.4	5.04	2.78	0.32641	.	1.307970	0.04965	N	0.462680	T	0.44307	0.1287	M	0.62088	1.915	0.27541	N	0.950808	P	0.39376	0.67	P	0.47626	0.552	T	0.31194	-0.9952	10	0.26408	T	0.33	.	5.2175	0.15350	0.1453:0.6296:0.1415:0.0837	.	322	P01024	CO3_HUMAN	N	322	ENSP00000245907:K322N	ENSP00000245907:K322N	K	-	3	2	C3	6664237	0.761000	0.28439	0.998000	0.56505	0.423000	0.31445	-0.238000	0.08977	1.139000	0.42245	-0.347000	0.07816	AAG		0.617	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		19	35	0	0	0	1	0	19	35				
FOXB2	442425	broad.mit.edu	37	9	79634636	79634636	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:79634636C>T	ENST00000376708.1	+	1	66	c.66C>T	c.(64-66)acC>acT	p.T22T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	22					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						TCTCGCTGACCGCCATGGCAA	0.642																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(64-66)acC>acT		forkhead box B2							52.0	47.0	49.0					9																	79634636		2203	4300	6503	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634636C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.66C>T	9.37:g.79634636C>T							p.T22T	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	66	+			22						Silent	SNP	ENST00000376708.1	37	c.66C>T	CCDS35045.1																																																																																				0.642	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		8	23	0	0	0	1	0	8	23				
TRIM4	89122	broad.mit.edu	37	7	99507277	99507277	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:99507277G>T	ENST00000355947.2	-	3	607	c.478C>A	c.(478-480)Ctt>Att	p.L160I	TRIM4_ENST00000354241.5_Missense_Mutation_p.L134I|TRIM4_ENST00000349062.2_Missense_Mutation_p.L134I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	160					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GACTTAAGAAGTTTCTCCTGC	0.378																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(478-480)Ctt>Att		tripartite motif containing 4							146.0	121.0	129.0					7																	99507277		2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99507277G>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.478C>A	7.37:g.99507277G>T	ENSP00000348216:p.Leu160Ile					TRIM4_ENST00000354241.5_Missense_Mutation_p.L134I|TRIM4_ENST00000349062.2_Missense_Mutation_p.L134I	p.L160I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			3	607	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	160					A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.478C>A	CCDS5679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.33|18.33	3.599760|3.599760	0.66332|0.66332	.|.	.|.	ENSG00000146833|ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000354241|ENST00000447480	T;T;T|.	0.72942|.	-0.7;0.16;0.16|.	2.55|2.55	1.66|1.66	0.24008|0.24008	.|.	.|.	.|.	.|.	.|.	T|T	0.39517|0.39517	0.1081|0.1081	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	D;D;D|.	0.64830|.	0.988;0.994;0.993|.	D;D;D|.	0.70487|.	0.945;0.969;0.952|.	T|T	0.28332|0.28332	-1.0047|-1.0047	9|5	0.40728|.	T|.	0.16|.	.|.	5.1837|5.1837	0.15173|0.15173	0.1637:0.0:0.8363:0.0|0.1637:0.0:0.8363:0.0	.|.	134;134;160|.	Q9C037-3;Q9C037-2;Q9C037|.	.;.;TRIM4_HUMAN|.	I|N	160;134;134|35	ENSP00000348216:L160I;ENSP00000275736:L134I;ENSP00000346186:L134I|.	ENSP00000275736:L134I|.	L|T	-|-	1|2	0|0	TRIM4|TRIM4	99345213|99345213	0.445000|0.445000	0.25657|0.25657	0.270000|0.270000	0.24601|0.24601	0.862000|0.862000	0.49288|0.49288	2.050000|2.050000	0.41297|0.41297	0.661000|0.661000	0.30985|0.30985	0.557000|0.557000	0.71058|0.71058	CTT|ACT		0.378	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		9	23	1	0	0.000274275	1	0.000283171	9	23				
EIF4ENIF1	56478	broad.mit.edu	37	22	31859698	31859698	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:31859698C>T	ENST00000397525.1	-	5	777	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R185Q|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R185Q|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	185	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTCCCTCTCTCGGTCTCTGTC	0.478																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(553-555)cGa>cAa		eukaryotic translation initiation factor 4E nuclear import factor 1							58.0	59.0	58.0					22																	31859698		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859698C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.554G>A	22.37:g.31859698C>T	ENSP00000380659:p.Arg185Gln					RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R185Q|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R185Q	p.R185Q	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			5	777	-			185			Arg-rich.		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.554G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107766	0.94292	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.33	5.33	0.75918	.	0.060596	0.64402	D	0.000007	T	0.77164	0.4090	M	0.71206	2.165	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.73704	-0.3899	9	0.28530	T	0.3	-8.6029	16.5729	0.84629	0.0:1.0:0.0:0.0	.	185	Q9NRA8	4ET_HUMAN	Q	185	.	ENSP00000328103:R185Q	R	-	2	0	EIF4ENIF1	30189698	1.000000	0.71417	0.911000	0.35937	0.965000	0.64279	7.082000	0.76851	2.675000	0.91044	0.557000	0.71058	CGA		0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		15	64	0	0	0	1	0	15	64				
GRSF1	2926	broad.mit.edu	37	4	71691080	71691080	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:71691080T>A	ENST00000254799.6	-	8	1443	c.1326A>T	c.(1324-1326)gaA>gaT	p.E442D	GRSF1_ENST00000502323.1_Missense_Mutation_p.E280D|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.E324D|GRSF1_ENST00000439371.1_Missense_Mutation_p.E280D	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	442	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCACATCAGCTTCTCCAGTGG	0.483																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1324-1326)gaA>gaT		G-rich RNA sequence binding factor 1							70.0	69.0	69.0					4																	71691080		2002	4190	6192	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691080T>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1326A>T	4.37:g.71691080T>A	ENSP00000254799:p.Glu442Asp					GRSF1_ENST00000502323.1_Missense_Mutation_p.E280D|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.E280D|GRSF1_ENST00000545193.1_Missense_Mutation_p.E324D	p.E442D	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		8	1443	-		all_hematologic(202;0.21)	442			RRM 3.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1326A>T	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.504012|4.504012	0.85176|0.85176	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193|ENST00000514161	T;T;T;T;T|.	0.07327|.	3.2;3.2;3.2;3.2;3.2|.	6.07|6.07	2.45|2.45	0.29901|0.29901	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65004|0.65004	0.2650|0.2650	M|M	0.74467|0.74467	2.265|2.265	0.50632|0.50632	D|D	0.999885|0.999885	D;D|.	0.76494|.	0.971;0.999|.	D;D|.	0.80764|.	0.971;0.994|.	T|T	0.62020|0.62020	-0.6942|-0.6942	10|5	0.34782|.	T|.	0.22|.	-8.9564|-8.9564	9.0047|9.0047	0.36104|0.36104	0.0:0.4244:0.0:0.5756|0.0:0.4244:0.0:0.5756	.|.	355;442|.	B7Z5F9;Q12849|.	.;GRSF1_HUMAN|.	D|M	442;280;374;415;280;324|379	ENSP00000254799:E442D;ENSP00000389219:E280D;ENSP00000427354:E415D;ENSP00000425430:E280D;ENSP00000443380:E324D|.	ENSP00000254799:E442D|.	E|K	-|-	3|2	2|0	GRSF1|GRSF1	71909944|71909944	0.871000|0.871000	0.30034|0.30034	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-0.040000|-0.040000	0.12104|0.12104	0.536000|0.536000	0.28733|0.28733	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.483	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		7	31	0	0	0	1	0	7	31				
TRIM49	57093	broad.mit.edu	37	11	89531516	89531516	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:89531516C>A	ENST00000329758.1	-	8	1469	c.1141G>T	c.(1141-1143)Ggg>Tgg	p.G381W	TRIM49_ENST00000532501.2_Missense_Mutation_p.G304W	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTAACACACCCAAGAAGAAAG	0.438																																						ENST00000329758.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1141-1143)Ggg>Tgg		tripartite motif containing 49							87.0	94.0	91.0					11																	89531516		2112	4274	6386	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89531516C>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1141G>T	11.37:g.89531516C>A	ENSP00000327604:p.Gly381Trp					TRIM49_ENST00000532501.2_Missense_Mutation_p.G304W	p.G381W	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1469	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	381			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.1141G>T	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	C	7.780	0.709335	0.15239	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.69175	-0.38	1.04	-2.09	0.07232	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.68155	0.2970	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	D	0.64687	0.928	T	0.57676	-0.7770	8	.	.	.	.	2.8594	0.05582	0.3746:0.3775:0.2479:0.0	.	381	P0CI25	TRI49_HUMAN	W	381;304	ENSP00000327604:G381W	.	G	-	1	0	TRIM49	89171164	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.186000	0.01251	-1.256000	0.02478	0.194000	0.17425	GGG		0.438	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		21	140	1	0	0.000132079	1	0.000137104	21	140				
GUCY1A2	2977	broad.mit.edu	37	11	106810701	106810701	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr11:106810701G>A	ENST00000526355.2	-	4	1159	c.691C>T	c.(691-693)Cct>Tct	p.P231S	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P231S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P231S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	231					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GTACCTTCAGGGAGCTCTTTG	0.458																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(691-693)Cct>Tct		guanylate cyclase 1, soluble, alpha 2							103.0	107.0	105.0					11																	106810701		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810701G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.691C>T	11.37:g.106810701G>A	ENSP00000431245:p.Pro231Ser					GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P231S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P231S	p.P231S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1159	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	231					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.691C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	4.647	0.120187	0.08881	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.38240	1.15;1.15;1.15	5.01	4.1	0.47936	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.152928	0.30185	U	0.010207	T	0.19127	0.0459	N	0.17379	0.485	0.35759	D	0.819994	B;B;B	0.27910	0.193;0.071;0.002	B;B;B	0.28916	0.089;0.096;0.006	T	0.14282	-1.0478	10	0.08179	T	0.78	.	8.4016	0.32590	0.0825:0.1546:0.7628:0.0	.	231;231;231	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	S	231	ENSP00000431245:P231S;ENSP00000282249:P231S;ENSP00000344874:P231S	ENSP00000282249:P231S	P	-	1	0	GUCY1A2	106315911	1.000000	0.71417	0.907000	0.35723	0.080000	0.17528	3.381000	0.52455	1.119000	0.41883	0.591000	0.81541	CCT		0.458	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			37	86	0	0	0	1	0	37	86				
CROCCP2	84809	broad.mit.edu	37	1	16958063	16958063	+	lincRNA	SNP	C	C	T	rs386628937|rs2779441	byFrequency	TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:16958063C>T	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCCCTCTCCATCCTCTGTC	0.652													.|||	346	0.0690895	0.09	0.0994	5008	,	,		59355	0.0119		0.0676	False		,,,				2504	0.0798					ENST00000412962.1																			0																																																			84809							g.chr1:16958063C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958063C>T														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.652	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	24	0	0	0	1	0	4	24				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	191	0	0	0	1	0	5	191				
SLC24A4	123041	broad.mit.edu	37	14	92920379	92920379	+	Missense_Mutation	SNP	G	G	A	rs540116512		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:92920379G>A	ENST00000532405.1	+	11	1242	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	SLC24A4_ENST00000351924.5_Missense_Mutation_p.R303Q|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R322Q|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R320Q|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R275Q			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	339					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCCAGGACCCGACTACGGATG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		21097	0.0		0.0	False		,,,				2504	0.001				NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(1015-1017)cGa>cAa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							137.0	102.0	114.0					14																	92920379		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92920379G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1016G>A	14.37:g.92920379G>A	ENSP00000431840:p.Arg339Gln					SLC24A4_ENST00000351924.5_Missense_Mutation_p.R303Q|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R320Q|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R322Q|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R275Q	p.R339Q			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	11	1242	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	339					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1016G>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	36	5.672151	0.96754	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	T;T;T;T;T	0.74947	-0.82;-0.44;-0.52;-0.89;-0.84	5.39	5.39	0.77823	.	0.050609	0.85682	D	0.000000	D	0.85927	0.5811	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.96	T	0.82358	-0.0497	10	0.14252	T	0.57	.	19.1797	0.93617	0.0:0.0:1.0:0.0	.	320;275;339	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	Q	275;320;339;322;303;191	ENSP00000376948:R275Q;ENSP00000433302:R320Q;ENSP00000431840:R339Q;ENSP00000298877:R322Q;ENSP00000337789:R303Q	ENSP00000298877:R322Q	R	+	2	0	SLC24A4	91990132	1.000000	0.71417	0.911000	0.35937	0.993000	0.82548	9.751000	0.98889	2.524000	0.85096	0.591000	0.81541	CGA		0.512	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		16	44	0	0	0	1	0	16	44				
CNGB1	1258	broad.mit.edu	37	16	57951312	57951312	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:57951312C>T	ENST00000251102.8	-	21	2086	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	CNGB1_ENST00000564448.1_Missense_Mutation_p.V670M	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	676					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCCAGCGCACGGGAATCAGC	0.557																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2008-2010)Gtg>Atg		cyclic nucleotide gated channel beta 1							119.0	125.0	123.0					16																	57951312		2110	4229	6339	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57951312C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2026G>A	16.37:g.57951312C>T	ENSP00000251102:p.Val676Met					CNGB1_ENST00000251102.8_Missense_Mutation_p.V676M	p.V670M			Q14028	CNGB1_HUMAN			21	2068	-			676					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2008G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195613	0.78902	.	.	ENSG00000070729	ENST00000251102	T	0.11495	2.77	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000002	T	0.17662	0.0424	M	0.69823	2.125	0.80722	D	1	P;P	0.51537	0.87;0.946	B;B	0.41466	0.358;0.35	T	0.01496	-1.1340	10	0.54805	T	0.06	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	48;676	Q14028-2;Q14028	.;CNGB1_HUMAN	M	676	ENSP00000251102:V676M	ENSP00000251102:V676M	V	-	1	0	CNGB1	56508813	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	5.530000	0.67141	2.894000	0.99253	0.655000	0.94253	GTG		0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		18	144	0	0	0	1	0	18	144				
EGFLAM	133584	broad.mit.edu	37	5	38427339	38427339	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:38427339G>A	ENST00000354891.3	+	14	2385	c.2039G>A	c.(2038-2040)gGg>gAg	p.G680E	EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446E|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.G680E	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	680	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGGCTCTGGGACCGGTGTC	0.502																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2038-2040)gGg>gAg		EGF-like, fibronectin type III and laminin G domains							148.0	152.0	151.0					5																	38427339		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427339G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2039G>A	5.37:g.38427339G>A	ENSP00000346964:p.Gly680Glu					EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46E|EGFLAM-AS1_ENST00000508986.1_RNA	p.G680E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			14	2385	+	all_lung(31;0.000385)		680			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2039G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118516	0.77323	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.81415	-0.71;-0.71;-0.71;-1.49	5.62	3.82	0.43975	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.106321	0.64402	N	0.000003	D	0.89914	0.6853	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.89891	0.4037	10	0.87932	D	0	-5.1667	10.422	0.44356	0.0694:0.0:0.7956:0.135	.	446;680;680	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	E	680;680;446;46;446	ENSP00000346964:G680E;ENSP00000313084:G680E;ENSP00000337607:G446E;ENSP00000380385:G46E	ENSP00000313084:G680E	G	+	2	0	EGFLAM	38463096	1.000000	0.71417	0.756000	0.31282	0.994000	0.84299	9.395000	0.97266	0.714000	0.32081	0.561000	0.74099	GGG		0.502	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		156	215	0	0	0	1	0	156	215				
RTN4	57142	broad.mit.edu	37	2	55255323	55255323	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:55255323T>A	ENST00000337526.6	-	2	833	c.590A>T	c.(589-591)gAg>gTg	p.E197V	RTN4_ENST00000404909.1_5'UTR|RTN4_ENST00000394611.2_5'UTR|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_5'UTR|RTN4_ENST00000405240.1_5'UTR|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000357732.4_Missense_Mutation_p.E197V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	197					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TATCACAGGCTCAGATGCAGC	0.393																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(589-591)gAg>gTg		reticulon 4							67.0	67.0	67.0					2																	55255323		1854	4109	5963	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55255323T>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.590A>T	2.37:g.55255323T>A	ENSP00000337838:p.Glu197Val					RTN4_ENST00000357376.3_5'UTR|RTN4_ENST00000357732.4_Missense_Mutation_p.E197V|RTN4_ENST00000394611.2_5'UTR|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000404909.1_5'UTR|RTN4_ENST00000405240.1_5'UTR|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron	p.E197V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			2	833	-			197					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.590A>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523494	0.44866	.	.	ENSG00000115310	ENST00000337526;ENST00000357732	T;T	0.19669	2.13;2.13	5.95	5.95	0.96441	.	0.169293	0.41712	D	0.000830	T	0.32406	0.0828	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.986;0.997	P;D	0.64042	0.843;0.921	T	0.03993	-1.0986	10	0.62326	D	0.03	-14.8222	12.2106	0.54377	0.0:0.0:0.2612:0.7388	.	197;197	Q9NQC3-5;Q9NQC3	.;RTN4_HUMAN	V	197	ENSP00000337838:E197V;ENSP00000350365:E197V	ENSP00000337838:E197V	E	-	2	0	RTN4	55108827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.248000	0.43160	2.276000	0.75962	0.528000	0.53228	GAG		0.393	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			9	27	0	0	0	1	0	9	27				
DPYSL2	1808	broad.mit.edu	37	8	26484164	26484164	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:26484164C>G	ENST00000311151.5	+	5	922	c.510C>G	c.(508-510)ttC>ttG	p.F170L	DPYSL2_ENST00000523027.1_Missense_Mutation_p.F134L|DPYSL2_ENST00000521913.1_Missense_Mutation_p.F134L	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	170					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		ACATGGCTTTCAAAGATCGCT	0.438																																						ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(508-510)ttC>ttG		dihydropyrimidinase-like 2							147.0	133.0	138.0					8																	26484164		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26484164C>G	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.510C>G	8.37:g.26484164C>G	ENSP00000309539:p.Phe170Leu					DPYSL2_ENST00000523027.1_Missense_Mutation_p.F134L|DPYSL2_ENST00000521913.1_Missense_Mutation_p.F134L	p.F170L	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	5	922	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	170					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.510C>G	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532543	0.64972	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.64	4.76	0.60689	Amidohydrolase 1 (1);	0.191138	0.48286	D	0.000181	T	0.81250	0.4783	N	0.22421	0.69	0.47905	D	0.999541	B;B;B	0.21753	0.005;0.024;0.06	B;B;B	0.19148	0.024;0.014;0.014	T	0.77910	-0.2411	10	0.87932	D	0	-9.0156	10.5009	0.44804	0.0:0.8535:0.0:0.1465	.	170;170;226	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	L	134;170;170;134	ENSP00000427985:F134L;ENSP00000309539:F170L;ENSP00000428909:F170L;ENSP00000431117:F134L	ENSP00000309539:F170L	F	+	3	2	DPYSL2	26540081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.124000	0.42006	1.386000	0.46466	0.655000	0.94253	TTC		0.438	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		14	46	0	0	0	1	0	14	46				
DOCK4	9732	broad.mit.edu	37	7	111462468	111462468	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:111462468G>A	ENST00000437633.1	-	27	3136	c.2880C>T	c.(2878-2880)cgC>cgT	p.R960R	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Silent_p.R960R	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	960					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACATCTCCGGGCGTATCAATA	0.368																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2878-2880)cgC>cgT		dedicator of cytokinesis 4							84.0	77.0	79.0					7																	111462468		1851	4090	5941	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111462468G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2880C>T	7.37:g.111462468G>A						DOCK4_ENST00000437633.1_Silent_p.R960R	p.R960R			Q8N1I0	DOCK4_HUMAN			27	3152	-		Acute lymphoblastic leukemia(1;0.0441)	960					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2880C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511465	0.27036	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.57	1.12	0.20585	.	.	.	.	.	T	0.60117	0.2244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57894	-0.7732	4	.	.	.	.	11.871	0.52520	0.0:0.6167:0.2672:0.1161	.	.	.	.	V	412;984	.	.	A	-	2	0	DOCK4	111249704	0.982000	0.34865	1.000000	0.80357	0.998000	0.95712	0.117000	0.15583	0.640000	0.30582	0.650000	0.86243	GCC		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	27	0	0	0	1	0	4	27				
TSHZ2	128553	broad.mit.edu	37	20	51873088	51873088	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr20:51873088G>A	ENST00000371497.5	+	2	3978	c.3091G>A	c.(3091-3093)Gtg>Atg	p.V1031M	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V1028M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V1028M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1031					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTAACAGACGTGGATGAAGA	0.493																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(3091-3093)Gtg>Atg		teashirt zinc finger homeobox 2							127.0	124.0	125.0					20																	51873088		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873088G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3091G>A	20.37:g.51873088G>A	ENSP00000360552:p.Val1031Met					TSHZ2_ENST00000603338.2_Missense_Mutation_p.V1028M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V1028M|RP4-678D15.1_ENST00000606932.1_RNA	p.V1031M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3978	+			1031					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3091G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854068	0.32791	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.15256	2.44;2.44	5.53	4.56	0.56223	.	0.216993	0.48286	D	0.000199	T	0.09335	0.0230	N	0.03115	-0.41	0.45452	D	0.998423	B	0.23990	0.095	B	0.20767	0.031	T	0.14144	-1.0483	10	0.44086	T	0.13	1.6784	16.2724	0.82628	0.0:0.1328:0.8672:0.0	.	1031	Q9NRE2	TSH2_HUMAN	M	1031;1028	ENSP00000360552:V1031M;ENSP00000333114:V1028M	ENSP00000333114:V1028M	V	+	1	0	TSHZ2	51306495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.596000	0.54024	1.297000	0.44761	0.643000	0.83706	GTG		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		22	88	0	0	0	1	0	22	88				
RAB3D	9545	broad.mit.edu	37	19	11446167	11446167	+	Missense_Mutation	SNP	C	C	T	rs369931189		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:11446167C>T	ENST00000222120.3	-	4	688	c.428G>A	c.(427-429)cGt>cAt	p.R143H	RAB3D_ENST00000589655.1_Missense_Mutation_p.R143H	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	143					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGGCACAACACGTTCGTCCTC	0.617																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(427-429)cGt>cAt		RAB3D, member RAS oncogene family		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	72.0	78.0		428	4.6	0.9	19		78	0,8600		0,0,4300	no	missense	RAB3D	NM_004283.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	143/220	11446167	1,13005	2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11446167C>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.428G>A	19.37:g.11446167C>T	ENSP00000222120:p.Arg143His					RAB3D_ENST00000589655.1_Missense_Mutation_p.R143H	p.R143H	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			4	688	-			143						Missense_Mutation	SNP	ENST00000222120.3	37	c.428G>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732770	0.89482	2.27E-4	0.0	ENSG00000105514	ENST00000222120	T	0.80304	-1.36	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	H	0.96748	3.875	0.80722	D	1	P	0.41313	0.745	P	0.44647	0.456	D	0.92854	0.6300	10	0.87932	D	0	.	16.747	0.85475	0.0:1.0:0.0:0.0	.	143	O95716	RAB3D_HUMAN	H	143	ENSP00000222120:R143H	ENSP00000222120:R143H	R	-	2	0	RAB3D	11307167	1.000000	0.71417	0.947000	0.38551	0.849000	0.48306	7.535000	0.82014	2.575000	0.86900	0.448000	0.29417	CGT		0.617	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		10	47	0	0	0	1	0	10	47				
UBXN4	23190	broad.mit.edu	37	2	136511787	136511787	+	Silent	SNP	A	A	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:136511787A>G	ENST00000272638.9	+	4	584	c.273A>G	c.(271-273)gaA>gaG	p.E91E	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	91					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						TTCCCTTGGAAGTAATAGCAG	0.393																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(271-273)gaA>gaG		UBX domain protein 4							177.0	164.0	168.0					2																	136511787		1873	4122	5995	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136511787A>G	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.273A>G	2.37:g.136511787A>G						UBXN4_ENST00000490163.1_3'UTR	p.E91E	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			4	584	+			91					A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.273A>G	CCDS42761.1																																																																																				0.393	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		31	51	0	0	0	1	0	31	51				
OCA2	4948	broad.mit.edu	37	15	28260020	28260020	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr15:28260020G>T	ENST00000354638.3	-	9	1101	c.946C>A	c.(946-948)Ctt>Att	p.L316I	OCA2_ENST00000353809.5_Missense_Mutation_p.L316I|OCA2_ENST00000382996.2_Missense_Mutation_p.L316I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	316					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCCATCAAAAGAGGGACAGCC	0.562									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(946-948)Ctt>Att		oculocutaneous albinism II							102.0	81.0	88.0					15																	28260020		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28260020G>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.946C>A	15.37:g.28260020G>T	ENSP00000346659:p.Leu316Ile					OCA2_ENST00000353809.5_Missense_Mutation_p.L316I|OCA2_ENST00000382996.2_Missense_Mutation_p.L316I	p.L316I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1101	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	316					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.946C>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360645	0.41801	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.94650	-2.91;-3.48;-2.83	5.55	3.67	0.42095	.	0.068688	0.56097	D	0.000028	D	0.92586	0.7645	M	0.66939	2.045	0.34482	D	0.703976	P;B	0.40602	0.723;0.354	P;B	0.45232	0.474;0.11	D	0.90290	0.4322	10	0.22109	T	0.4	-13.543	5.8613	0.18749	0.1714:0.1717:0.6569:0.0	.	316;316	Q04671-2;Q04671	.;P_HUMAN	I	316	ENSP00000346659:L316I;ENSP00000261276:L316I;ENSP00000372457:L316I	ENSP00000261276:L316I	L	-	1	0	OCA2	25933615	1.000000	0.71417	0.717000	0.30585	0.278000	0.26855	3.992000	0.56980	0.709000	0.31976	0.655000	0.94253	CTT		0.562	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		7	44	1	0	0.00198382	1	0.00203715	7	44				
PPP3CB	5532	broad.mit.edu	37	10	75234717	75234717	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:75234717T>A	ENST00000360663.5	-	4	594	c.483A>T	c.(481-483)gaA>gaT	p.E161D	PPP3CB_ENST00000394828.2_Missense_Mutation_p.E161D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E161D|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E179D|PPP3CB_ENST00000545874.1_Missense_Mutation_p.E75D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E161D			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	161	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GGTGTCTGCATTCATGGTTGC	0.353																																						ENST00000360663.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22						c.(481-483)gaA>gaT		protein phosphatase 3, catalytic subunit, beta isozyme							92.0	94.0	93.0					10																	75234717		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75234717T>A	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.483A>T	10.37:g.75234717T>A	ENSP00000353881:p.Glu161Asp					PPP3CB_ENST00000545874.1_Missense_Mutation_p.E75D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E161D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E161D|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E161D|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E179D	p.E161D			P16298	PP2BB_HUMAN			4	594	-	Prostate(51;0.0119)		161			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.483A>T	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964089	0.74131	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	4.57	4.57	0.56435	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	0.000000	0.64402	D	0.000004	T	0.63070	0.2480	H	0.99985	5.245	0.52501	D	0.99995	P;D;D;D;D	0.76494	0.741;0.988;0.999;0.989;0.997	P;D;D;D;D	0.78314	0.543;0.912;0.982;0.991;0.985	T	0.82961	-0.0197	10	0.87932	D	0	.	14.211	0.65764	0.0:0.0:0.0:1.0	.	179;75;161;161;161	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	D	161;161;161;161;75;179	ENSP00000353881:E161D;ENSP00000378306:E161D;ENSP00000378305:E161D;ENSP00000343147:E161D;ENSP00000439876:E75D;ENSP00000378299:E179D	ENSP00000343147:E161D	E	-	3	2	PPP3CB	74904723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.772000	0.47678	1.833000	0.53350	0.528000	0.53228	GAA		0.353	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		15	23	0	0	0	1	0	15	23				
UGT2A1	10941	broad.mit.edu	37	4	70513156	70513156	+	Silent	SNP	C	C	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:70513156C>G	ENST00000503640.1	-	1	262	c.207G>C	c.(205-207)ctG>ctC	p.L69L	UGT2A1_ENST00000512704.1_Silent_p.L69L|UGT2A1_ENST00000514019.1_Silent_p.L69L|UGT2A1_ENST00000286604.4_Silent_p.L69L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	69					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTCAAATGTCAGAGATGGGT	0.383																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(205-207)ctG>ctC		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							81.0	79.0	80.0					4																	70513156		2203	4299	6502	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70513156C>G	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.207G>C	4.37:g.70513156C>G						UGT2A1_ENST00000514019.1_Silent_p.L69L|UGT2A1_ENST00000512704.1_Silent_p.L69L|UGT2A1_ENST00000286604.4_Silent_p.L69L	p.L69L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			1	262	-			69					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.207G>C	CCDS3529.1																																																																																				0.383	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		10	64	0	0	0	1	0	10	64				
TMPRSS9	360200	broad.mit.edu	37	19	2408471	2408471	+	Silent	SNP	G	G	A	rs541228281	byFrequency	TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr19:2408471G>A	ENST00000332578.3	+	7	858	c.858G>A	c.(856-858)gcG>gcA	p.A286A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	286	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTACAACGCGGACACGGCCG	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		4338	0.0		0.0	False		,,,				2504	0.002					ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(856-858)gcG>gcA		transmembrane protease, serine 9							111.0	95.0	100.0					19																	2408471		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408471G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.858G>A	19.37:g.2408471G>A							p.A286A	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	858	+			286			Peptidase S1 1.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.858G>A	CCDS12088.1																																																																																				0.672	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		34	115	0	0	0	1	0	34	115				
TBC1D32	221322	broad.mit.edu	37	6	121642893	121642893	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr6:121642893C>A	ENST00000398212.2	-	2	252	c.203G>T	c.(202-204)gGt>gTt	p.G68V	TBC1D32_ENST00000275159.6_Missense_Mutation_p.G68V	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	68					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AATCATAGAACCCAAAGTGTT	0.358																																						ENST00000275159.6																			0											c.(202-204)gGt>gTt		TBC1 domain family, member 32							175.0	157.0	162.0					6																	121642893		1850	4116	5966	SO:0001583	missense	221322							g.chr6:121642893C>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.203G>T	6.37:g.121642893C>A	ENSP00000381270:p.Gly68Val					TBC1D32_ENST00000398212.2_Missense_Mutation_p.G68V	p.G68V							2	202	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.203G>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727679	0.69074	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.32023	1.47;1.47;1.47	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54050	-0.8351	10	0.87932	D	0	-10.3883	19.2613	0.93968	0.0:1.0:0.0:0.0	.	68	Q96NH3	BROMI_HUMAN	V	68	ENSP00000275159:G68V;ENSP00000381270:G68V;ENSP00000397993:G68V	ENSP00000275159:G68V	G	-	2	0	C6orf170	121684592	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	6.825000	0.75293	2.574000	0.86865	0.609000	0.83330	GGT		0.358	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		39	73	1	0	1.36161e-19	1	1.52087e-19	39	73				
CD19	930	broad.mit.edu	37	16	28948832	28948832	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:28948832T>G	ENST00000324662.3	+	10	1404	c.1360T>G	c.(1360-1362)Tcc>Gcc	p.S454A	CD19_ENST00000567541.1_Missense_Mutation_p.S454A|CD19_ENST00000538922.1_Missense_Mutation_p.S454A			P15391	CD19_HUMAN	CD19 molecule	454					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGATGAAGACTCCTTCTCCAA	0.582																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(1360-1362)Tcc>Gcc		CD19 molecule							90.0	93.0	92.0					16																	28948832		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948832T>G		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1360T>G	16.37:g.28948832T>G	ENSP00000313419:p.Ser454Ala					CD19_ENST00000324662.3_Missense_Mutation_p.S454A|CD19_ENST00000567541.1_Missense_Mutation_p.S454A	p.S454A	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			10	1422	+			454					A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.1360T>G	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710665	0.48517	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.48201	0.82;0.82	4.72	4.72	0.59763	.	0.000000	0.50627	D	0.000108	T	0.54382	0.1855	L	0.29908	0.895	0.32038	N	0.598663	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.971	T	0.63532	-0.6616	10	0.87932	D	0	-15.7362	10.8662	0.46856	0.0:0.0:0.0:1.0	.	454;454	F5H635;P15391	.;CD19_HUMAN	A	454;261;454;303	ENSP00000437940:S454A;ENSP00000313419:S454A	ENSP00000313419:S454A	S	+	1	0	CD19	28856333	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.471000	0.53107	1.895000	0.54865	0.379000	0.24179	TCC		0.582	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			45	40	0	0	0	1	0	45	40				
SPIC	121599	broad.mit.edu	37	12	101880335	101880335	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:101880335G>C	ENST00000551346.1	+	6	692	c.533G>C	c.(532-534)aGa>aCa	p.R178T	SPIC_ENST00000299272.5_Missense_Mutation_p.R178T			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	178					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AATTACGGAAGAAGTGGGGAA	0.453																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(532-534)aGa>aCa		Spi-C transcription factor (Spi-1/PU.1 related)							76.0	76.0	76.0					12																	101880335		2203	4300	6503	SO:0001583	missense	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880335G>C	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.533G>C	12.37:g.101880335G>C	ENSP00000448580:p.Arg178Thr					SPIC_ENST00000299272.5_Missense_Mutation_p.R178T	p.R178T			Q8N5J4	SPIC_HUMAN			6	692	+			178						Missense_Mutation	SNP	ENST00000551346.1	37	c.533G>C	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502519	0.64298	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.55588	0.51;0.51	4.69	4.69	0.59074	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.043938	0.85682	D	0.000000	T	0.67344	0.2883	M	0.63428	1.95	0.54753	D	0.999984	D	0.76494	0.999	D	0.72982	0.979	T	0.68891	-0.5289	10	0.54805	T	0.06	-2.7696	12.4679	0.55771	0.0817:0.0:0.9183:0.0	.	178	Q8N5J4	SPIC_HUMAN	T	178	ENSP00000448580:R178T;ENSP00000299272:R178T	ENSP00000299272:R178T	R	+	2	0	SPIC	100404466	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.165000	0.71891	2.323000	0.78572	0.650000	0.86243	AGA		0.453	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		18	78	0	0	0	1	0	18	78				
ZFHX3	463	broad.mit.edu	37	16	72822330	72822330	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr16:72822330G>A	ENST00000268489.5	-	10	10517	c.9845C>T	c.(9844-9846)gCg>gTg	p.A3282V	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2368V|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3282					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGGTCTACCGCATACTCCAT	0.612																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9844-9846)gCg>gTg		zinc finger homeobox 3							67.0	72.0	71.0					16																	72822330		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822330G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9845C>T	16.37:g.72822330G>A	ENSP00000268489:p.Ala3282Val					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2368V	p.A3282V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10517	-		Ovarian(137;0.13)	3282					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9845C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324750	0.41197	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73047	-0.71;-0.7	5.55	5.55	0.83447	.	0.130828	0.34156	N	0.004215	T	0.40423	0.1116	N	0.01352	-0.895	0.38312	D	0.943275	B	0.12013	0.005	B	0.08055	0.003	T	0.47235	-0.9133	10	0.14252	T	0.57	.	12.7999	0.57580	0.0747:0.0:0.9253:0.0	.	3282	Q15911	ZFHX3_HUMAN	V	3282;2368	ENSP00000268489:A3282V;ENSP00000438926:A2368V	ENSP00000268489:A3282V	A	-	2	0	ZFHX3	71379831	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	5.117000	0.64667	2.617000	0.88574	0.557000	0.71058	GCG		0.612	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	200	0	0	0	1	0	4	200				
FAM208A	23272	broad.mit.edu	37	3	56680649	56680649	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:56680649T>A	ENST00000493960.2	-	14	2126	c.2116A>T	c.(2116-2118)Agc>Tgc	p.S706C	FAM208A_ENST00000355628.5_Missense_Mutation_p.S706C|FAM208A_ENST00000431842.2_Missense_Mutation_p.S310C	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	706							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						ACAGTTTTGCTTCTCATATCT	0.368																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(928-930)Agc>Tgc		family with sequence similarity 208, member A							148.0	147.0	147.0					3																	56680649		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56680649T>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2116A>T	3.37:g.56680649T>A	ENSP00000417509:p.Ser706Cys					FAM208A_ENST00000355628.5_Missense_Mutation_p.S706C|FAM208A_ENST00000493960.2_Missense_Mutation_p.S706C	p.S310C	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			7	1852	-			706					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.928A>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518121	0.64634	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.13089	2.62;2.81;2.81	5.26	4.07	0.47477	.	0.162146	0.44688	D	0.000435	T	0.20981	0.0505	N	0.24115	0.695	0.42403	D	0.992576	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.69654	0.965;0.818;0.818	T	0.01925	-1.1246	10	0.66056	D	0.02	-3.8342	11.4478	0.50134	0.0:0.0719:0.0:0.9281	.	706;706;310	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	C	310;706;706	ENSP00000399410:S310C;ENSP00000417509:S706C;ENSP00000347845:S706C	ENSP00000347845:S706C	S	-	1	0	C3orf63	56655689	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.523000	0.53488	2.207000	0.71202	0.533000	0.62120	AGC		0.368	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		35	31	0	0	0	1	0	35	31				
RFC2	5982	broad.mit.edu	37	7	73646504	73646504	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:73646504A>C	ENST00000055077.3	-	11	1057	c.997T>G	c.(997-999)Tct>Gct	p.S333A	RFC2_ENST00000352131.3_Missense_Mutation_p.S299A	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	333					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGCAAAAGAGAGTTCACTCCT	0.448																																						ENST00000055077.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.(997-999)Tct>Gct		replication factor C (activator 1) 2, 40kDa							99.0	96.0	97.0					7																	73646504		2203	4300	6503	SO:0001583	missense	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73646504A>C		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.997T>G	7.37:g.73646504A>C	ENSP00000055077:p.Ser333Ala					RFC2_ENST00000352131.3_Missense_Mutation_p.S299A	p.S333A	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN			11	1057	-			333					B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	ENST00000055077.3	37	c.997T>G	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.971492	0.92919	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;T	0.44083	0.93;0.93	5.22	5.22	0.72569	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.84511	2.7	0.80722	D	1	P;P;P	0.44946	0.814;0.846;0.846	P;P;P	0.59546	0.779;0.859;0.73	T	0.68754	-0.5325	10	0.49607	T	0.09	.	14.2228	0.65839	1.0:0.0:0.0:0.0	.	299;299;333	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	A	299;333	ENSP00000275627:S299A;ENSP00000055077:S333A	ENSP00000055077:S333A	S	-	1	0	RFC2	73284440	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.736000	0.91554	2.109000	0.64355	0.528000	0.53228	TCT		0.448	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		51	148	0	0	0	1	0	51	148				
TTC39C	125488	broad.mit.edu	37	18	21649158	21649158	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr18:21649158G>A	ENST00000317571.3	+	4	619	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	TTC39C_ENST00000304621.6_Missense_Mutation_p.R67Q|TTC39C_ENST00000578150.1_Intron	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	128										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ATGGTTGATCGGCTTCAGAGG	0.428																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(382-384)cGg>cAg		tetratricopeptide repeat domain 39C							103.0	93.0	96.0					18																	21649158		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21649158G>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.383G>A	18.37:g.21649158G>A	ENSP00000323645:p.Arg128Gln					TTC39C_ENST00000578150.1_Intron|TTC39C_ENST00000304621.6_Missense_Mutation_p.R67Q	p.R128Q	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			4	619	+			128					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.383G>A	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	35	5.568299	0.96540	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.42131	0.98;0.98	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	M	0.64997	1.995	0.80722	D	1	P	0.47962	0.903	B	0.38106	0.265	T	0.38672	-0.9650	10	0.30854	T	0.27	0.1249	19.4751	0.94983	0.0:0.0:1.0:0.0	.	128	Q8N584	TT39C_HUMAN	Q	67;128	ENSP00000306598:R67Q;ENSP00000323645:R128Q	ENSP00000306598:R67Q	R	+	2	0	TTC39C	19903156	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.361000	0.97122	2.618000	0.88619	0.655000	0.94253	CGG		0.428	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		12	68	0	0	0	1	0	12	68				
PCDHB15	56121	broad.mit.edu	37	5	140627222	140627222	+	Silent	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:140627222G>A	ENST00000231173.3	+	1	2076	c.2076G>A	c.(2074-2076)gtG>gtA	p.V692V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	692					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGGTGGTGGCATTGGCCT	0.662																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2074-2076)gtG>gtA									92.0	95.0	94.0					5																	140627222		2202	4296	6498	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627222G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2076G>A	5.37:g.140627222G>A							p.V692V	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2076	+			692					Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2076G>A	CCDS4257.1																																																																																				0.662	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		42	160	0	0	0	1	0	42	160				
VGLL4	9686	broad.mit.edu	37	3	11684932	11684932	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:11684932T>C	ENST00000430365.2	-	1	466	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	VGLL4_ENST00000404339.1_Intron|VGLL4_ENST00000273038.3_Intron	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		AGAATGCCGATATTGTTGTTC	0.473																																						ENST00000430365.2																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(61-63)Atc>Gtc		vestigial like 4 (Drosophila)							204.0	195.0	197.0					3																	11684932		1568	3582	5150	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11684932T>C	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.61A>G	3.37:g.11684932T>C	ENSP00000404251:p.Ile21Val					VGLL4_ENST00000404339.1_Intron|VGLL4_ENST00000273038.3_Intron	p.I21V	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	1	466	-			0					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000430365.2	37	c.61A>G	CCDS46754.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586933	0.46110	.	.	ENSG00000144560	ENST00000430365	T	0.48836	0.8	5.41	4.22	0.49857	.	.	.	.	.	T	0.32941	0.0846	N	0.17872	0.535	0.80722	D	1	B	0.19073	0.033	B	0.24006	0.05	T	0.06463	-1.0825	9	0.33141	T	0.24	2.1359	11.1081	0.48214	0.0:0.0:0.1548:0.8452	.	21	G5E9M7	.	V	21	ENSP00000404251:I21V	ENSP00000404251:I21V	I	-	1	0	VGLL4	11659932	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	4.153000	0.58118	0.862000	0.35528	0.533000	0.62120	ATC		0.473	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		37	64	0	0	0	1	0	37	64				
DECR1	1666	broad.mit.edu	37	8	91057169	91057169	+	Silent	SNP	C	C	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:91057169C>T	ENST00000220764.2	+	8	919	c.831C>T	c.(829-831)ctC>ctT	p.L277L	DECR1_ENST00000522161.1_Silent_p.L268L	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	277					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAGAAGAACTCGCAAATCTTG	0.423																																						ENST00000522161.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(802-804)ctC>ctT		2,4-dienoyl CoA reductase 1, mitochondrial							191.0	168.0	176.0					8																	91057169		2203	4300	6503	SO:0001819	synonymous_variant	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91057169C>T	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.831C>T	8.37:g.91057169C>T						DECR1_ENST00000220764.2_Silent_p.L277L	p.L268L			Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		10	1487	+			277					B7Z6B8|Q2M304|Q93085	Silent	SNP	ENST00000220764.2	37	c.804C>T	CCDS6250.1																																																																																				0.423	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			28	91	0	0	0	1	0	28	91				
ASPG	374569	broad.mit.edu	37	14	104552178	104552178	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr14:104552178G>A	ENST00000551177.1	+	1	163	c.71G>A	c.(70-72)aGt>aAt	p.S24N	ASPG_ENST00000455920.2_Missense_Mutation_p.S24N|ASPG_ENST00000546892.2_Missense_Mutation_p.S24N	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	24	Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCATGCGGAGTGAGCTCGGC	0.751																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(70-72)aGt>aAt		asparaginase homolog (S. cerevisiae)							13.0	14.0	14.0					14																	104552178		1770	3897	5667	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104552178G>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.71G>A	14.37:g.104552178G>A	ENSP00000450040:p.Ser24Asn					ASPG_ENST00000455920.2_Missense_Mutation_p.S24N|ASPG_ENST00000546892.2_Missense_Mutation_p.S24N	p.S24N	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			1	163	+			24					B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.71G>A	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224472	0.01530	.	.	ENSG00000166183	ENST00000551177;ENST00000546892;ENST00000455920	T;T;T	0.22743	1.94;1.94;1.94	3.74	1.8	0.24995	.	.	.	.	.	T	0.08179	0.0204	N	0.11427	0.14	0.24417	N	0.994634	B;B;B	0.12630	0.002;0.006;0.004	B;B;B	0.18263	0.021;0.007;0.003	T	0.40117	-0.9580	9	0.06099	T	0.92	.	4.5984	0.12341	0.1206:0.0:0.6637:0.2157	.	24;24;24	G3V1Y8;Q86U10;Q86U10-3	.;LPP60_HUMAN;.	N	24	ENSP00000450040:S24N;ENSP00000448911:S24N;ENSP00000389003:S24N	ENSP00000389003:S24N	S	+	2	0	ASPG	103621931	0.740000	0.28207	0.931000	0.37212	0.116000	0.19942	0.820000	0.27323	0.757000	0.33036	0.561000	0.74099	AGT		0.751	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		6	18	0	0	0	1	0	6	18				
FTH1P3	2498	broad.mit.edu	37	5	17354385	17354385	+	lincRNA	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:17354385T>C	ENST00000511821.1	+	0	244				FTH1P10_ENST00000401830.3_RNA																							GGCAAAGTTCTTCAAAGCCAC	0.493																																						ENST00000511821.1																			0																																																			2498							g.chr5:17354385T>C																													5.37:g.17354385T>C						FTH1P10_ENST00000401830.3_RNA								0	244	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.493	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			18	101	0	0	0	1	0	18	101				
KCNS3	3790	broad.mit.edu	37	2	18112727	18112727	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr2:18112727T>G	ENST00000403915.1	+	3	903	c.452T>G	c.(451-453)cTg>cGg	p.L151R	KCNS3_ENST00000304101.4_Missense_Mutation_p.L151R|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	151					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGTCGTCTCTGTTTGAGAAA	0.498																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(451-453)cTg>cGg		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							75.0	78.0	77.0					2																	18112727		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112727T>G	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.452T>G	2.37:g.18112727T>G	ENSP00000385968:p.Leu151Arg					KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.L151R	p.L151R			Q9BQ31	KCNS3_HUMAN			3	903	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		151					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.452T>G	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	T	7.797	0.712781	0.15306	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97303	-4.33;-4.33	5.88	5.88	0.94601	.	1.422290	0.04477	N	0.377192	D	0.95233	0.8454	L	0.34521	1.04	0.40424	D	0.979879	P	0.37864	0.61	B	0.38106	0.265	T	0.81933	-0.0706	10	0.13470	T	0.59	.	16.3009	0.82811	0.0:0.0:0.0:1.0	.	151	Q9BQ31	KCNS3_HUMAN	R	151	ENSP00000385968:L151R;ENSP00000305824:L151R	ENSP00000305824:L151R	L	+	2	0	KCNS3	17976208	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	3.900000	0.56295	2.246000	0.74042	0.533000	0.62120	CTG		0.498	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		17	81	0	0	0	1	0	17	81				
BICD2	23299	broad.mit.edu	37	9	95482937	95482937	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:95482937G>A	ENST00000375512.3	-	4	774	c.707C>T	c.(706-708)tCa>tTa	p.S236L	BICD2_ENST00000356884.6_Missense_Mutation_p.S236L	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	236					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCCGCTCTGAGATCTCCTT	0.582																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(706-708)tCa>tTa		bicaudal D homolog 2 (Drosophila)							74.0	79.0	77.0					9																	95482937		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95482937G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.707C>T	9.37:g.95482937G>A	ENSP00000364662:p.Ser236Leu					BICD2_ENST00000375512.3_Missense_Mutation_p.S236L	p.S236L	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			4	774	-			236					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.707C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821701	0.90873	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.51071	0.72;0.72	5.36	5.36	0.76844	.	0.197327	0.45606	D	0.000344	T	0.40956	0.1138	L	0.40543	1.245	0.45515	D	0.998472	P;P	0.47484	0.873;0.896	B;B	0.43838	0.306;0.433	T	0.18777	-1.0326	10	0.07813	T	0.8	-7.6585	16.9688	0.86294	0.0:0.0:1.0:0.0	.	236;236	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	L	236	ENSP00000349351:S236L;ENSP00000364662:S236L	ENSP00000349351:S236L	S	-	2	0	BICD2	94522758	1.000000	0.71417	0.968000	0.41197	0.983000	0.72400	7.747000	0.85070	2.684000	0.91462	0.655000	0.94253	TCA		0.582	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		31	37	0	0	0	1	0	31	37				
TAS2R20	259295	broad.mit.edu	37	12	11149817	11149817	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr12:11149817T>C	ENST00000538986.1	-	1	657	c.658A>G	c.(658-660)Agc>Ggc	p.S220G	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	220					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATCTTGGTGCTGGGATCTTGA	0.398																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(658-660)Agc>Ggc		taste receptor, type 2, member 20							194.0	191.0	192.0					12																	11149817		2203	4300	6503	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149817T>C	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.658A>G	12.37:g.11149817T>C	ENSP00000441624:p.Ser220Gly					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.S220G	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	657	-			220					P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.658A>G	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332368	0.24167	.	.	ENSG00000255837	ENST00000538986	T	0.37915	1.17	2.66	2.66	0.31614	.	0.347487	0.22131	U	0.064182	T	0.60805	0.2297	H	0.96460	3.825	0.09310	N	0.999996	P	0.41848	0.763	P	0.51016	0.656	T	0.58301	-0.7660	10	0.87932	D	0	.	8.7768	0.34767	0.0:0.0:0.0:1.0	.	220	P59543	T2R20_HUMAN	G	220	ENSP00000441624:S220G	ENSP00000441624:S220G	S	-	1	0	TAS2R20	11041084	0.915000	0.31059	0.411000	0.26484	0.002000	0.02628	2.455000	0.44988	1.210000	0.43336	0.482000	0.46254	AGC		0.398	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		50	180	0	0	0	1	0	50	180				
PSTK	118672	broad.mit.edu	37	10	124742937	124742937	+	Missense_Mutation	SNP	G	G	A	rs79236806		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr10:124742937G>A	ENST00000368887.3	+	3	1098	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	PSTK_ENST00000405485.1_Missense_Mutation_p.E220K|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	220					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AAATGCTTGGGAACACAACAG	0.532																																						ENST00000405485.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13						c.(658-660)Gaa>Aaa		phosphoseryl-tRNA kinase							82.0	83.0	83.0					10																	124742937		2203	4300	6503	SO:0001583	missense	118672						ATP binding|kinase activity	g.chr10:124742937G>A	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.658G>A	10.37:g.124742937G>A	ENSP00000357882:p.Glu220Lys					PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000368887.3_Missense_Mutation_p.E220K	p.E220K			Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	3	724	+		all_neural(114;0.169)|Glioma(114;0.222)	220					Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	c.658G>A	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334452	0.95758	.	.	ENSG00000179988	ENST00000368887;ENST00000405485	T;T	0.34275	1.37;1.37	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	M	0.81239	2.535	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.66642	-0.5872	10	0.72032	D	0.01	-20.3729	19.3663	0.94464	0.0:0.0:1.0:0.0	.	220	Q8IV42	PSTK_HUMAN	K	220	ENSP00000357882:E220K;ENSP00000384764:E220K	ENSP00000357882:E220K	E	+	1	0	PSTK	124732927	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.838000	0.86804	2.873000	0.98535	0.563000	0.77884	GAA		0.532	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		9	29	0	0	0	1	0	9	29				
CRYBG3	131544	broad.mit.edu	37	3	97596560	97596560	+	Missense_Mutation	SNP	G	G	T	rs528260943		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr3:97596560G>T	ENST00000182096.4	+	1	742	c.678G>T	c.(676-678)caG>caT	p.Q226H		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2174							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTACCTTCCAGTTGCCAGATC	0.473																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(676-678)caG>caT		beta-gamma crystallin domain containing 3							78.0	82.0	81.0					3																	97596560		2105	4240	6345	SO:0001583	missense	131544							g.chr3:97596560G>T			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.678G>T	3.37:g.97596560G>T	ENSP00000182096:p.Gln226His						p.Q226H	NM_153605.3	NP_705833.3					1	742	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.678G>T		.	.	.	.	.	.	.	.	.	.	G	0.042	-1.280488	0.01398	.	.	ENSG00000080200	ENST00000182096	T	0.74421	-0.84	5.66	1.72	0.24424	.	4.558330	0.00357	N	0.000034	T	0.54255	0.1847	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41680	-0.9495	10	0.24483	T	0.36	.	4.0501	0.09791	0.1468:0.3751:0.3678:0.1102	.	226	Q68DQ2	CRBG3_HUMAN	H	226	ENSP00000182096:Q226H	ENSP00000182096:Q226H	Q	+	3	2	CRYBG3	99079250	0.007000	0.16637	0.054000	0.19295	0.079000	0.17450	-0.077000	0.11394	0.271000	0.22005	0.555000	0.69702	CAG		0.473	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		10	57	1	0	1.76689e-08	1	1.91748e-08	10	57				
VCP	7415	broad.mit.edu	37	9	35059572	35059572	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr9:35059572T>A	ENST00000358901.6	-	14	2817	c.1922A>T	c.(1921-1923)cAg>cTg	p.Q641L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	641					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTAGATGAGCTGATCAAGACG	0.517																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1921-1923)cAg>cTg		valosin containing protein							166.0	132.0	144.0					9																	35059572		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35059572T>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1922A>T	9.37:g.35059572T>A	ENSP00000351777:p.Gln641Leu						p.Q641L	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		14	2817	-			641					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1922A>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	T	36	5.600484	0.96614	.	.	ENSG00000165280	ENST00000358901	D	0.92699	-3.09	6.07	6.07	0.98685	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	N	0.02111	-0.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93727	0.7038	10	0.87932	D	0	-32.0411	16.6288	0.85011	0.0:0.0:0.0:1.0	.	641	P55072	TERA_HUMAN	L	641	ENSP00000351777:Q641L	ENSP00000351777:Q641L	Q	-	2	0	VCP	35049572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	CAG		0.517	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		34	35	0	0	0	1	0	34	35				
ELAVL4	1996	broad.mit.edu	37	1	50659554	50659568	+	In_Frame_Del	DEL	ATCATCACCTCACGA	ATCATCACCTCACGA	-	rs369875371		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:50659554_50659568delATCATCACCTCACGA	ENST00000371823.4	+	4	696_710	c.472_486delATCATCACCTCACGA	c.(472-486)atcatcacctcacgadel	p.IITSR158del	ELAVL4_ENST00000357083.4_In_Frame_Del_p.IITSR175del|ELAVL4_ENST00000371824.1_In_Frame_Del_p.IITSR158del|ELAVL4_ENST00000448907.2_In_Frame_Del_p.IITSR161del|ELAVL4_ENST00000371821.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000371827.1_In_Frame_Del_p.IITSR158del|ELAVL4_ENST00000371819.1_In_Frame_Del_p.IITSR163del	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	158	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATACGGCCGTATCATCACCTCACGAATCCTGGTTG	0.451																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(472-486)del		ELAV like neuron-specific RNA binding protein 4																																				SO:0001651	inframe_deletion	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50659554_50659568delATCATCACCTCACGA	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.472_486delATCATCACCTCACGA	1.37:g.50659554_50659568delATCATCACCTCACGA	ENSP00000360888:p.Ile158_Arg162del					ELAVL4_ENST00000371821.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000371819.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000448907.2_In_Frame_Del_p.IITSR161del|ELAVL4_ENST00000371823.4_In_Frame_Del_p.IITSR158del|ELAVL4_ENST00000357083.4_In_Frame_Del_p.IITSR175del|ELAVL4_ENST00000371827.1_In_Frame_Del_p.IITSR158del	p.IITSR158del			P26378	ELAV4_HUMAN			4	729_743	+			158			RRM 2.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	In_Frame_Del	DEL	ENST00000371823.4	37	c.472_486delATCATCACCTCACGA	CCDS553.1																																																																																				0.451	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		10	117						10	117	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(730-735)aaagcafs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs	p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	923_924	-			245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		10	54						10	54	---	---	---	---
CENPC	1060	broad.mit.edu	37	4	68384935	68384936	+	Splice_Site	INS	-	-	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr4:68384935_68384936insT	ENST00000273853.6	-	6	866_867	c.616_617insA	c.(616-618)agg>aAgg	p.R206fs		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	206					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										AAAATGTTACCTTTTTTTGGTT	0.262																																						ENST00000273853.6																			0											c.e6+1		centromere protein C																																				SO:0001630	splice_region_variant	1060							g.chr4:68384935_68384936insT	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.617+1->A	4.37:g.68384942_68384942dupT							p.V206_splice	NM_001812.2	NP_001803.2					6	866_867	-								Q8IW27|Q9P0M5	Splice_Site	INS	ENST00000273853.6	37	c.617_splice	CCDS47063.1																																																																																				0.262	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		Frame_Shift_Ins	12	51						12	51	---	---	---	---
CTD-2012J19.3	0	broad.mit.edu	37	5	1597954	1597955	+	lincRNA	INS	-	-	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr5:1597954_1597955insT	ENST00000605200.1	+	0	622				RP11-43F13.1_ENST00000507841.1_RNA																							ttttctttttctttttttttga	0.465																																						ENST00000605200.1																			0																																																			0							g.chr5:1597954_1597955insT																													5.37:g.1597963_1597963dupT														0	622	+									RNA	INS	ENST00000605200.1	37																																																																																						0.465	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			2	4						2	4	---	---	---	---
NRF1	4899	broad.mit.edu	37	7	129350403	129350404	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr7:129350403_129350404insT	ENST00000393232.1	+	7	1072_1073	c.955_956insT	c.(955-957)cttfs	p.L319fs	NRF1_ENST00000539636.1_Frame_Shift_Ins_p.L158fs|NRF1_ENST00000393231.3_Frame_Shift_Ins_p.L319fs|NRF1_ENST00000311967.2_Frame_Shift_Ins_p.L319fs|NRF1_ENST00000223190.4_Frame_Shift_Ins_p.L319fs|NRF1_ENST00000353868.4_Intron|NRF1_ENST00000393230.2_Frame_Shift_Ins_p.L319fs	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	319	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CACTGTCTCACTTATCCAGGTG	0.49																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(955-957)tatfs		nuclear respiratory factor 1																																				SO:0001589	frameshift_variant	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129350403_129350404insT	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.957dupT	7.37:g.129350405_129350405dupT	ENSP00000376924:p.Leu319fs					NRF1_ENST00000353868.4_Intron|NRF1_ENST00000393231.3_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000223190.4_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000539636.1_Frame_Shift_Ins_p.Y158fs|NRF1_ENST00000393230.2_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000311967.2_Frame_Shift_Ins_p.Y319fs	p.Y319fs	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			7	1072_1073	+			319			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Frame_Shift_Ins	INS	ENST00000393232.1	37	c.955_956insT	CCDS5813.2																																																																																				0.490	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		24	39						24	39	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	3						3	3	---	---	---	---
SCARF2	91179	broad.mit.edu	37	22	20780088	20780088	+	Frame_Shift_Del	DEL	C	C	-	rs370859341		TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:20780088delC	ENST00000266214.5	-	11	2294	c.2190delG	c.(2188-2190)gggfs	p.G730fs	SCARF2_ENST00000405555.3_Frame_Shift_Del_p.G725fs	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	730	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTCGGGCAGCCCCGGGGGGC	0.781																																						ENST00000405555.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10						c.(2173-2175)ggfs		scavenger receptor class F, member 2			,	2725,39		1347,31,4	3.0	4.0	4.0		,	3.4	1.0	22		4	5308,56		2635,38,9	no	frameshift,frameshift	SCARF2	NM_182895.2,NM_153334.4	,	3982,69,13	A1A1,A1R,RR		1.044,1.411,1.1688	,	,	20780088	8033,95	1531	2921	4452	SO:0001589	frameshift_variant	91179				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20780088delC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2190delG	22.37:g.20780088delC	ENSP00000266214:p.Gly730fs					SCARF2_ENST00000266214.5_Frame_Shift_Del_p.G730fs	p.G725fs	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		11	2245	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	725			Pro-rich.		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Frame_Shift_Del	DEL	ENST00000266214.5	37	c.2175delG	CCDS13779.1																																																																																				0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			3	3						3	3	---	---	---	---
CARD10	29775	broad.mit.edu	37	22	37887204	37887204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chr22:37887204delT	ENST00000403299.1	-	21	3308	c.3092delA	c.(3091-3093)gagfs	p.E1031fs	CARD10_ENST00000406271.3_Frame_Shift_Del_p.E745fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.E1031fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	1031					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCTCAGGCCTCACTGCTGCT	0.667																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(3091-3093)ggfs		caspase recruitment domain family, member 10							7.0	8.0	8.0					22																	37887204		2126	4216	6342	SO:0001589	frameshift_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37887204delT	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.3092delA	22.37:g.37887204delT	ENSP00000384570:p.Glu1031fs					CARD10_ENST00000406271.3_Frame_Shift_Del_p.E745fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.E1031fs	p.E1031fs			Q9BWT7	CAR10_HUMAN			21	3308	-	Melanoma(58;0.0574)		1031					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Del	DEL	ENST00000403299.1	37	c.3092delA	CCDS13948.1																																																																																				0.667	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		2	4						2	4	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153688832	153688832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5Q6-01A-11D-A28R-08	TCGA-P3-A5Q6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23564147-0060-4a59-8610-f743f5fe4868	976c14e7-b73a-4752-ade1-b3f15e3e23ad	g.chrX:153688832delC	ENST00000369682.3	+	2	484	c.309delC	c.(307-309)gacfs	p.D103fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	103	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTCATAGACTATGCGGCCC	0.672																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(307-309)gafs		plexin A3							21.0	22.0	21.0					X																	153688832		2202	4295	6497	SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688832delC	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.309delC	X.37:g.153688832delC	ENSP00000358696:p.Asp103fs						p.D103fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	484	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		103			Sema.		Q5HY36	Frame_Shift_Del	DEL	ENST00000369682.3	37	c.309delC	CCDS14752.1																																																																																				0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		24	17						24	17	---	---	---	---
