#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Confidence	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	i_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	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
LCE2C	353140	hgsc.bcm.edu	37	1	152648496	152648496	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr1:152648496C>T	ENST00000368783.1	+	2	60	c.5C>T	c.(4-6)tCt>tTt	p.S2F	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	2					keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCATGTCTTGCCAGCAA	0.448																																					p.S2F		Atlas-SNP	.											.	LCE2C	24	.	0			c.C5T						PASS	.						106.0	116.0	112.0					1																	152648496		2203	4300	6503	SO:0001583	missense	353140	exon2			GCATGTCTTGCCA		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.5C>T	chr1.hg19:g.152648496C>T	ENSP00000357772:p.Ser2Phe	116.0	0.0	.		154.0	77.0	.	NM_178429		Missense_Mutation	SNP	ENST00000368783.1	hg19	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	C	6.631	0.484808	0.12641	.	.	ENSG00000187180	ENST00000368783	T	0.06371	3.31	3.27	2.34	0.29019	.	.	.	.	.	T	0.03695	0.0105	M	0.79805	2.47	0.23776	N	0.996871	B	0.09022	0.002	B	0.10450	0.005	T	0.32613	-0.9900	9	0.87932	D	0	.	6.3247	0.21237	0.0:0.8572:0.0:0.1428	.	2	Q5TA81	LCE2C_HUMAN	F	2	ENSP00000357772:S2F	ENSP00000357772:S2F	S	+	2	0	LCE2C	150915120	1.000000	0.71417	0.993000	0.49108	0.731000	0.41821	2.058000	0.41374	0.703000	0.31848	0.563000	0.77884	TCT	.	.	.	none		0.448	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429	
OLFML2B	25903	hgsc.bcm.edu	37	1	161993092	161993092	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr1:161993092C>G	ENST00000294794.3	-	1	552	c.129G>C	c.(127-129)gaG>gaC	p.E43D	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E43D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	43					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTTGCAGAGTCTCGTCCTCCG	0.597																																					p.E43D		Atlas-SNP	.											.	OLFML2B	114	.	0			c.G129C						PASS	.						149.0	126.0	134.0					1																	161993092		2203	4300	6503	SO:0001583	missense	25903	exon1			CAGAGTCTCGTCC	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.129G>C	chr1.hg19:g.161993092C>G	ENSP00000294794:p.Glu43Asp	131.0	0.0	.		118.0	26.0	.	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	hg19	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742353	0.30865	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.50548	0.74;0.74	4.96	1.86	0.25419	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.24182	N	0.995582	B;B	0.15930	0.015;0.004	B;B	0.12156	0.007;0.003	T	0.16571	-1.0398	8	0.19147	T	0.46	.	12.6021	0.56503	0.0:0.4827:0.5173:0.0	.	43;43	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	D	43	ENSP00000294794:E43D;ENSP00000356917:E43D	ENSP00000294794:E43D	E	-	3	2	OLFML2B	160259716	0.911000	0.30947	0.412000	0.26496	0.824000	0.46624	0.373000	0.20484	0.209000	0.20645	0.561000	0.74099	GAG	.	.	.	none		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
PPP1R12B	4660	hgsc.bcm.edu	37	1	202418132	202418132	+	Silent	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr1:202418132C>G	ENST00000608999.1	+	13	1836	c.1683C>G	c.(1681-1683)tcC>tcG	p.S561S	PPP1R12B_ENST00000336894.4_Silent_p.S561S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	561					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTCACAAATCCCAGGCCGACA	0.468																																					p.S561S		Atlas-SNP	.											.	PPP1R12B	100	.	0			c.C1683G						PASS	.						99.0	96.0	97.0					1																	202418132		2203	4300	6503	SO:0001819	synonymous_variant	4660	exon13			CAAATCCCAGGCC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1683C>G	chr1.hg19:g.202418132C>G		145.0	0.0	.		125.0	46.0	.	NM_002481	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	ENST00000608999.1	hg19	CCDS1426.1																																																																																			.	.	.	none		0.468	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
KCNH1	3756	hgsc.bcm.edu	37	1	210857406	210857406	+	Silent	SNP	C	C	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr1:210857406C>A	ENST00000271751.4	-	11	2214	c.2187G>T	c.(2185-2187)ctG>ctT	p.L729L	KCNH1_ENST00000367007.4_Silent_p.L702L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	729	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGGCAAGATCAGGGGGGCCT	0.577																																					p.L729L		Atlas-SNP	.											.	KCNH1	199	.	0			c.G2187T						PASS	.						59.0	59.0	59.0					1																	210857406		2203	4300	6503	SO:0001819	synonymous_variant	3756	exon11			CAAGATCAGGGGG	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2187G>T	chr1.hg19:g.210857406C>A		56.0	0.0	.		55.0	21.0	.	NM_172362	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	hg19	CCDS1496.1																																																																																			.	.	.	none		0.577	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
GTF3C2	2976	hgsc.bcm.edu	37	2	27556578	27556578	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr2:27556578C>T	ENST00000359541.2	-	12	2105	c.1676G>A	c.(1675-1677)aGc>aAc	p.S559N	AC109828.1_ENST00000592265.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.S559N|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000416453.2_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	559					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGCCAGGCTAAGGCACTG	0.473																																					p.H559H		Atlas-SNP	.											.	GTF3C2	73	.	0			c.A1676A						PASS	.						120.0	123.0	122.0					2																	27556578		2203	4300	6503	SO:0001583	missense	2976	exon13			GCCAGGCTAAGGC	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1676G>A	chr2.hg19:g.27556578C>T	ENSP00000352536:p.Ser559Asn	163.0	0.0	.		168.0	10.0	.	NM_001521	D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	hg19	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.943988|2.943988	0.53079|0.53079	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000454704|ENST00000359541;ENST00000264720	.|T;T	.|0.68025	.|-0.3;-0.3	5.39|5.39	4.48|4.48	0.54585|0.54585	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.237726	.|0.43110	.|D	.|0.000610	T|T	0.60209|0.60209	0.2251|0.2251	L|L	0.36672|0.36672	1.1|1.1	0.30311|0.30311	N|N	0.788563|0.788563	.|P;P	.|0.52316	.|0.952;0.651	.|P;B	.|0.46452	.|0.517;0.212	T|T	0.62044|0.62044	-0.6937|-0.6937	5|10	.|0.37606	.|T	.|0.19	-12.0259|-12.0259	12.7939|12.7939	0.57549|0.57549	0.0:0.702:0.298:0.0|0.0:0.702:0.298:0.0	.|.	.|559;559	.|Q8WUA4-2;Q8WUA4	.|.;TF3C2_HUMAN	T|N	68|559	.|ENSP00000352536:S559N;ENSP00000264720:S559N	.|ENSP00000264720:S559N	A|S	-|-	1|2	0|0	GTF3C2|GTF3C2	27410082|27410082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.290000|2.290000	0.43531|0.43531	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	GCC|AGC	.	.	.	none		0.473	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
PASK	23178	hgsc.bcm.edu	37	2	242077491	242077491	+	Silent	SNP	C	C	T	rs374396215		TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr2:242077491C>T	ENST00000405260.1	-	6	1451	c.753G>A	c.(751-753)acG>acA	p.T251T	PASK_ENST00000403638.3_Silent_p.T251T|PASK_ENST00000544142.1_Silent_p.T65T|PASK_ENST00000358649.4_Silent_p.T251T|PASK_ENST00000539818.1_Silent_p.T35T|PASK_ENST00000234040.4_Silent_p.T251T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	251					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGTCACATGACGTGACGGTGC	0.502																																					p.T251T		Atlas-SNP	.											.	PASK	230	.	0			c.G753A						PASS	.						122.0	96.0	105.0					2																	242077491		2203	4300	6503	SO:0001819	synonymous_variant	23178	exon6			ACATGACGTGACG	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.753G>A	chr2.hg19:g.242077491C>T		71.0	0.0	.		74.0	5.0	.	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	hg19	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078021	0.01903	.	.	ENSG00000115687	ENST00000433589	.	.	.	4.63	-8.3	0.01005	.	.	.	.	.	T	0.27169	0.0666	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30679	-0.9970	4	.	.	.	.	9.3571	0.38173	0.1144:0.1683:0.0:0.7173	.	.	.	.	H	66	.	.	R	-	2	0	PASK	241726164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.195000	0.01242	-1.859000	0.01156	-0.907000	0.02831	CGT	.	.	.	weak		0.502	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
DLEC1	9940	hgsc.bcm.edu	37	3	38103779	38103779	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr3:38103779G>A	ENST00000308059.6	+	4	814	c.793G>A	c.(793-795)Gat>Aat	p.D265N	DLEC1_ENST00000452631.2_Missense_Mutation_p.D265N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D265N					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGAGTTCGAAGATGAGTTAGA	0.458																																					p.D265N		Atlas-SNP	.											.	DLEC1	278	.	0			c.G793A						PASS	.						88.0	82.0	84.0					3																	38103779		1982	4173	6155	SO:0001583	missense	9940	exon4			TTCGAAGATGAGT	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.793G>A	chr3.hg19:g.38103779G>A	ENSP00000308597:p.Asp265Asn	110.0	0.0	.		84.0	40.0	.	NM_007337		Missense_Mutation	SNP	ENST00000308059.6	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166638	0.38217	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05258	3.49;3.47;3.71	3.52	3.52	0.40303	.	0.905722	0.09716	N	0.765070	T	0.07908	0.0198	M	0.62723	1.935	0.09310	N	1	B;P;B	0.40050	0.247;0.7;0.247	B;B;B	0.35278	0.199;0.19;0.199	T	0.19943	-1.0290	10	0.16896	T	0.51	-8.804	10.8549	0.46794	0.0:0.0:1.0:0.0	.	265;265;265	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	N	265	ENSP00000308597:D265N;ENSP00000315914:D265N;ENSP00000410427:D265N	ENSP00000308597:D265N	D	+	1	0	DLEC1	38078783	0.760000	0.28428	0.021000	0.16686	0.059000	0.15707	3.718000	0.54919	2.278000	0.76064	0.655000	0.94253	GAT	.	.	.	none		0.458	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
CPNE4	131034	hgsc.bcm.edu	37	3	131268825	131268825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr3:131268825G>T	ENST00000512055.1	-	18	3394	c.1268C>A	c.(1267-1269)tCa>tAa	p.S423*	CPNE4_ENST00000502818.1_Nonsense_Mutation_p.S441*|CPNE4_ENST00000511604.1_Nonsense_Mutation_p.S423*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.S441*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.S423*			Q96A23	CPNE4_HUMAN	copine IV	423	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTCTGACGCTGACTTGGCAAC	0.522																																					p.S423X		Atlas-SNP	.											.	CPNE4	112	.	0			c.C1268A						PASS	.						156.0	135.0	142.0					3																	131268825		2203	4300	6503	SO:0001587	stop_gained	131034	exon14			GACGCTGACTTGG	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1268C>A	chr3.hg19:g.131268825G>T	ENSP00000421705:p.Ser423*	120.0	0.0	.		139.0	57.0	.	NM_130808	D3DNC5|Q8TEX1	Nonsense_Mutation	SNP	ENST00000512055.1	hg19	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	39	7.419351	0.98272	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	.	.	.	5.22	5.22	0.72569	.	0.112824	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-9.0488	18.7675	0.91879	0.0:0.0:1.0:0.0	.	.	.	.	X	423;423;441;423;441	.	ENSP00000411904:S423X	S	-	2	0	CPNE4	132751515	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.392000	0.66272	2.436000	0.82500	0.462000	0.41574	TCA	.	.	.	none		0.522	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
RBP1	5947	hgsc.bcm.edu	37	3	139236515	139236515	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr3:139236515C>G	ENST00000232219.2	-	4	658	c.548G>C	c.(547-549)aGa>aCa	p.R183T	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	121					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	ACCTTCCACTCTCATCTCCTG	0.483																																					p.R183T		Atlas-SNP	.											.	RBP1	39	.	0			c.G548C						PASS	.						204.0	165.0	178.0					3																	139236515		2203	4300	6503	SO:0001583	missense	5947	exon4			TCCACTCTCATCT		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000232219.2:c.548G>C	chr3.hg19:g.139236515C>G	ENSP00000232219:p.Arg183Thr	69.0	0.0	.		71.0	11.0	.	NM_002899	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000232219.2	hg19	CCDS3110.2	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947160	0.18356	.	.	ENSG00000114115	ENST00000232219	T	0.06218	3.33	5.77	5.77	0.91146	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.02888	0.0086	N	0.01417	-0.88	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.55379	-0.8150	10	0.14656	T	0.56	.	17.4774	0.87662	0.0:1.0:0.0:0.0	.	121	P09455	RET1_HUMAN	T	183	ENSP00000232219:R183T	ENSP00000232219:R183T	R	-	2	0	RBP1	140719205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.257000	0.72480	2.726000	0.93360	0.655000	0.94253	AGA	.	.	.	none		0.483	RBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341495.1	NM_002899	
BOD1L1	259282	hgsc.bcm.edu	37	4	13602062	13602062	+	Silent	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr4:13602062C>T	ENST00000040738.5	-	10	6597	c.6462G>A	c.(6460-6462)ttG>ttA	p.L2154L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2154						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGAGATAGGCAATTCGAATT	0.498																																					p.L2154L		Atlas-SNP	.											.	.	.	.	0			c.G6462A						PASS	.						89.0	77.0	81.0					4																	13602062		2203	4300	6503	SO:0001819	synonymous_variant	259282	exon10			GATAGGCAATTCG	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6462G>A	chr4.hg19:g.13602062C>T		53.0	0.0	.		57.0	30.0	.	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	hg19	CCDS3411.2																																																																																			.	.	.	none		0.498	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
WDR19	57728	hgsc.bcm.edu	37	4	39233429	39233429	+	Silent	SNP	T	T	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr4:39233429T>G	ENST00000399820.3	+	18	2149	c.1995T>G	c.(1993-1995)gcT>gcG	p.A665A	WDR19_ENST00000288634.7_Silent_p.A505A|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	665					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTTCTGATGCTTGGGAAATGT	0.433																																					p.A665A		Atlas-SNP	.											.	WDR19	96	.	0			c.T1995G						PASS	.						107.0	101.0	103.0					4																	39233429		1949	4150	6099	SO:0001819	synonymous_variant	57728	exon18			TGATGCTTGGGAA	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1995T>G	chr4.hg19:g.39233429T>G		110.0	0.0	.		76.0	39.0	.	NM_025132	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	hg19	CCDS47042.1																																																																																			.	.	.	none		0.433	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		
METTL14	57721	hgsc.bcm.edu	37	4	119613212	119613212	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr4:119613212T>C	ENST00000388822.5	+	5	568	c.401T>C	c.(400-402)aTc>aCc	p.I134T	METTL14_ENST00000506780.1_Missense_Mutation_p.I96T			Q9HCE5	MET14_HUMAN	methyltransferase like 14	134					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CAGAATTTCATCAGGGATGTA	0.333																																					p.I134T		Atlas-SNP	.											.	METTL14	41	.	0			c.T401C						PASS	.						169.0	158.0	161.0					4																	119613212		2203	4300	6503	SO:0001583	missense	57721	exon5			ATTTCATCAGGGA	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.401T>C	chr4.hg19:g.119613212T>C	ENSP00000373474:p.Ile134Thr	69.0	0.0	.		87.0	36.0	.	NM_020961	A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	hg19	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	t	23.9	4.472103	0.84533	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82149	-0.0600	9	0.66056	D	0.02	1.2634	16.4054	0.83662	0.0:0.0:0.0:1.0	.	96;134	D6RBL4;Q9HCE5	.;MTL14_HUMAN	T	134;96	.	ENSP00000373474:I134T	I	+	2	0	METTL14	119832660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.426000	0.80270	2.282000	0.76494	0.528000	0.53228	ATC	.	.	.	none		0.333	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961	
ERBB2IP	55914	hgsc.bcm.edu	37	5	65350314	65350314	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr5:65350314G>A	ENST00000284037.5	+	21	3557	c.3168G>A	c.(3166-3168)atG>atA	p.M1056I	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.M1052I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.M1056I|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.M1056I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1056					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATGGGGAAATGTGGGCCATCT	0.438																																					p.M1056I		Atlas-SNP	.											.	ERBB2IP	120	.	0			c.G3168A						PASS	.						132.0	128.0	129.0					5																	65350314		2203	4300	6503	SO:0001583	missense	55914	exon21			GGAAATGTGGGCC		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3168G>A	chr5.hg19:g.65350314G>A	ENSP00000284037:p.Met1056Ile	84.0	0.0	.		95.0	24.0	.	NM_001253699	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	hg19	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919750	0.33908	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.38401	1.33;1.33;1.34;1.53;1.14;1.41;1.33;1.37;1.14	5.67	5.67	0.87782	.	0.190134	0.64402	D	0.000016	T	0.30386	0.0763	N	0.17474	0.49	0.58432	D	0.999992	B;P;B;B;B;P;B	0.47762	0.068;0.839;0.023;0.014;0.031;0.9;0.024	B;B;B;B;B;P;B	0.44990	0.045;0.276;0.027;0.006;0.016;0.466;0.013	T	0.02512	-1.1148	10	0.21014	T	0.42	.	19.7424	0.96237	0.0:0.0:1.0:0.0	.	1056;1056;1056;1052;1056;1056;1056	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	I	1056;1056;1056;1056;1056;1056;1052;1056;1056	ENSP00000284037:M1056I;ENSP00000370330:M1056I;ENSP00000370326:M1056I;ENSP00000370323:M1056I;ENSP00000370322:M1056I;ENSP00000370325:M1056I;ENSP00000422766:M1052I;ENSP00000426632:M1056I;ENSP00000422015:M1056I	ENSP00000284037:M1056I	M	+	3	0	ERBB2IP	65386070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.792000	0.91856	2.670000	0.90874	0.655000	0.94253	ATG	.	.	.	none		0.438	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
DDX46	9879	hgsc.bcm.edu	37	5	134109546	134109546	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr5:134109546A>G	ENST00000354283.4	+	5	743	c.608A>G	c.(607-609)gAt>gGt	p.D203G	DDX46_ENST00000452510.2_Missense_Mutation_p.D203G			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	203	Poly-Asp.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTAGAGGACGATGATGGTATA	0.328																																					p.D203G	Colon(13;391 453 4901 21675 24897)	Atlas-SNP	.											.	DDX46	77	.	0			c.A608G						PASS	.						126.0	126.0	126.0					5																	134109546		2203	4300	6503	SO:0001583	missense	9879	exon5			AGGACGATGATGG		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.608A>G	chr5.hg19:g.134109546A>G	ENSP00000346236:p.Asp203Gly	288.0	0.0	.		300.0	15.0	.	NM_014829	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	hg19	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514770	0.85389	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.27890	1.64;1.64	4.84	4.84	0.62591	.	0.047448	0.85682	D	0.000000	T	0.53883	0.1824	M	0.74647	2.275	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.56547	-0.7961	10	0.48119	T	0.1	-22.7899	14.3642	0.66795	1.0:0.0:0.0:0.0	.	203	Q7L014	DDX46_HUMAN	G	203	ENSP00000416534:D203G;ENSP00000346236:D203G	ENSP00000346236:D203G	D	+	2	0	DDX46	134137445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.758000	0.91663	1.934000	0.56057	0.528000	0.53228	GAT	.	.	.	none		0.328	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
VWA7	80737	hgsc.bcm.edu	37	6	31740832	31740832	+	Missense_Mutation	SNP	T	T	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr6:31740832T>G	ENST00000375688.4	-	7	1186	c.986A>C	c.(985-987)gAg>gCg	p.E329A	VWA7_ENST00000375686.3_Missense_Mutation_p.E329A|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E329A			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	329	VWFA.					extracellular region (GO:0005576)											AGCGTTGATCTCCTCACCCAT	0.612																																					p.E329A		Atlas-SNP	.											.	.	.	.	0			c.A986C						PASS	.						48.0	36.0	40.0					6																	31740832		1511	2709	4220	SO:0001583	missense	80737	exon7			TTGATCTCCTCAC		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.986A>C	chr6.hg19:g.31740832T>G	ENSP00000364840:p.Glu329Ala	61.0	0.0	.		60.0	11.0	.	NM_025258	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	hg19	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379006	0.82682	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	D;D;D	0.97731	-4.51;-4.51;-4.51	5.74	5.74	0.90152	von Willebrand factor, type A (1);	0.052325	0.64402	D	0.000001	D	0.97247	0.9100	M	0.78049	2.395	0.47374	D	0.999402	D	0.55385	0.971	P	0.50825	0.651	D	0.97034	0.9752	10	0.51188	T	0.08	-14.2839	13.9835	0.64319	0.0:0.0:0.0:1.0	.	329	Q9Y334	G7C_HUMAN	A	329	ENSP00000364840:E329A;ENSP00000364838:E329A;ENSP00000390554:E329A	ENSP00000364838:E329A	E	-	2	0	C6orf27	31848811	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.834000	0.75339	2.186000	0.69663	0.455000	0.32223	GAG	.	.	.	none		0.612	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	
HBS1L	10767	hgsc.bcm.edu	37	6	135360838	135360838	+	Silent	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr6:135360838T>C	ENST00000367837.5	-	4	509	c.303A>G	c.(301-303)ttA>ttG	p.L101L	HBS1L_ENST00000367826.2_Silent_p.L59L|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367822.5_Silent_p.L101L|HBS1L_ENST00000314674.3_Silent_p.L101L|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000525067.1_Silent_p.L37L|HBS1L_ENST00000367820.2_Silent_p.L101L|HBS1L_ENST00000367824.4_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	101					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGCTTCAATTAATATTTCAT	0.413																																					p.L101L		Atlas-SNP	.											.	HBS1L	75	.	0			c.A303G						PASS	.						160.0	149.0	153.0					6																	135360838		2203	4300	6503	SO:0001819	synonymous_variant	10767	exon4			TTCAATTAATATT	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.303A>G	chr6.hg19:g.135360838T>C		64.0	0.0	.		68.0	31.0	.	NM_001145207	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	hg19	CCDS5173.1																																																																																			.	.	.	none		0.413	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2		
KCNU1	157855	hgsc.bcm.edu	37	8	36694438	36694438	+	Missense_Mutation	SNP	C	C	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr8:36694438C>A	ENST00000399881.3	+	14	1530	c.1493C>A	c.(1492-1494)tCt>tAt	p.S498Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	498	Segment S7.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTCCTAACATCTCTATTTGTG	0.393																																					p.S498Y		Atlas-SNP	.											.	KCNU1	359	.	0			c.C1493A						PASS	.						193.0	190.0	191.0					8																	36694438		1864	4102	5966	SO:0001583	missense	157855	exon14			TAACATCTCTATT	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1493C>A	chr8.hg19:g.36694438C>A	ENSP00000382770:p.Ser498Tyr	86.0	0.0	.		96.0	45.0	.	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	hg19	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769759	0.69992	.	.	ENSG00000215262	ENST00000399881	T	0.44083	0.93	5.34	5.34	0.76211	Potassium channel, calcium-activated, BK, alpha subunit (2);	0.848376	0.09485	U	0.795761	T	0.59797	0.2220	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.52646	-0.8548	10	0.87932	D	0	-4.9467	13.1151	0.59295	0.0:0.7923:0.2077:0.0	.	498	A8MYU2	KCNU1_HUMAN	Y	498	ENSP00000382770:S498Y	ENSP00000382770:S498Y	S	+	2	0	KCNU1	36813596	0.975000	0.34042	0.930000	0.37139	0.985000	0.73830	1.363000	0.34159	2.657000	0.90304	0.585000	0.79938	TCT	.	.	.	none		0.393	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
HGSNAT	138050	hgsc.bcm.edu	37	8	43048924	43048924	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr8:43048924T>C	ENST00000458501.2	+	14	1486	c.1486T>C	c.(1486-1488)Tat>Cat	p.Y496H	HGSNAT_ENST00000521576.1_Missense_Mutation_p.Y185H|HGSNAT_ENST00000297798.7_Missense_Mutation_p.Y200H|HGSNAT_ENST00000379644.4_Missense_Mutation_p.Y468H			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	496					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CGAGGTGGCCTATGACCCCGA	0.453																																					p.Y468H		Atlas-SNP	.											.	HGSNAT	85	.	0			c.T1402C						PASS	.						144.0	145.0	144.0					8																	43048924		1943	4144	6087	SO:0001583	missense	138050	exon14			GTGGCCTATGACC		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1486T>C	chr8.hg19:g.43048924T>C	ENSP00000389524:p.Tyr496His	111.0	0.0	.		98.0	40.0	.	NM_152419	B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.24|14.24	2.476133|2.476133	0.44044|0.44044	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000524016|ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	.|D;D;D;D	.|0.94758	.|-3.51;-3.51;-3.51;-3.51	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.069987	.|0.64402	.|D	.|0.000015	D|D	0.91300|0.91300	0.7257|0.7257	L|L	0.46885|0.46885	1.475|1.475	0.43242|0.43242	D|D	0.995157|0.995157	.|B	.|0.34015	.|0.435	.|B	.|0.32149	.|0.141	D|D	0.90493|0.90493	0.4468|0.4468	5|10	.|0.46703	.|T	.|0.11	-14.9366|-14.9366	12.9101|12.9101	0.58175|0.58175	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|496	.|Q68CP4	.|HGNAT_HUMAN	P|H	169|496;468;185;200	.|ENSP00000389524:Y496H;ENSP00000368965:Y468H;ENSP00000429029:Y185H;ENSP00000297798:Y200H	.|ENSP00000297798:Y200H	L|Y	+|+	2|1	0|0	HGSNAT|HGSNAT	43168081|43168081	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.466000|0.466000	0.32739|0.32739	7.539000|7.539000	0.82063|0.82063	1.937000|1.937000	0.56155|0.56155	0.529000|0.529000	0.55759|0.55759	CTA|TAT	.	.	.	none		0.453	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
PI15	51050	hgsc.bcm.edu	37	8	75761353	75761354	+	Splice_Site	DNP	GG	GG	TA			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr8:75761353_75761354GG>TA	ENST00000260113.2	+	6	821_822	c.642_643GG>TA	c.(640-645)aaGGgc>aaTAgc	p.214_215KG>NS	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Splice_Site_p.214_215KG>NS|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	214						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TCCCTTCTAGGGGCAATTGGAT	0.401																																					p.K214N|p.G215S		Atlas-SNP	.											.	PI15	73	.	0			c.G642T|c.G643A						PASS	.																																			SO:0001630	splice_region_variant	51050	exon6			TTCTAGGGGCAAT|TCTAGGGGCAATT	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	Exception_encountered	chr8.hg19:g.75761353_75761354delinsTA		75.0	0.0	.		74.0|75.0	34.0|35.0	.	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	hg19	CCDS6218.1																																																																																			.	.	.	none		0.401	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	Missense_Mutation
RBM17	84991	hgsc.bcm.edu	37	10	6155504	6155504	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:6155504C>G	ENST00000446108.1	+	9	1534	c.890C>G	c.(889-891)aCt>aGt	p.T297S	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Missense_Mutation_p.T297S	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	297					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AATCCGCTGACTGAAATACTT	0.418																																					p.T297S		Atlas-SNP	.											.	RBM17	45	.	0			c.C890G						PASS	.						132.0	136.0	134.0					10																	6155504		2203	4300	6503	SO:0001583	missense	84991	exon9			CGCTGACTGAAAT	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.890C>G	chr10.hg19:g.6155504C>G	ENSP00000388638:p.Thr297Ser	64.0	0.0	.		52.0	19.0	.	NM_001145547	Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	hg19	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827856	0.90955	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.69011	-0.5258	9	0.20046	T	0.44	-15.9215	19.5911	0.95511	0.0:1.0:0.0:0.0	.	297	Q96I25	SPF45_HUMAN	S	297	.	ENSP00000369218:T297S	T	+	2	0	RBM17	6195510	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.262000	0.78410	2.633000	0.89246	0.561000	0.74099	ACT	.	.	.	none		0.418	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905	
WAC	51322	hgsc.bcm.edu	37	10	28824568	28824568	+	Silent	SNP	T	T	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:28824568T>A	ENST00000354911.4	+	3	317	c.156T>A	c.(154-156)ccT>ccA	p.P52P	WAC_ENST00000428935.1_Silent_p.P7P|WAC_ENST00000375646.1_Silent_p.P7P|WAC_ENST00000347934.4_Silent_p.P52P|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375664.4_Silent_p.P7P|WAC-AS1_ENST00000527986.1_RNA	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	52					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCGGAGATCCTTCACCACCAA	0.458																																					p.P52P		Atlas-SNP	.											.	WAC	77	.	0			c.T156A						PASS	.						106.0	103.0	104.0					10																	28824568		2203	4300	6503	SO:0001819	synonymous_variant	51322	exon3			AGATCCTTCACCA	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.156T>A	chr10.hg19:g.28824568T>A		183.0	0.0	.		192.0	90.0	.	NM_100486	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	hg19	CCDS7159.1																																																																																			.	.	.	none		0.458	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	
SLC16A12	387700	hgsc.bcm.edu	37	10	91196029	91196029	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:91196029A>G	ENST00000341233.4	-	7	1376	c.986T>C	c.(985-987)aTg>aCg	p.M329T	SLC16A12_ENST00000371790.4_Missense_Mutation_p.M359T	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GAGCCCATCCATTCCCACGGC	0.453																																					p.M359T		Atlas-SNP	.											.	SLC16A12	40	.	0			c.T1076C						PASS	.						126.0	112.0	117.0					10																	91196029		2203	4300	6503	SO:0001583	missense	387700	exon7			CCATCCATTCCCA		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.986T>C	chr10.hg19:g.91196029A>G	ENSP00000343022:p.Met329Thr	123.0	0.0	.		124.0	58.0	.	NM_213606	Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	hg19		.	.	.	.	.	.	.	.	.	.	A	14.59	2.580520	0.46006	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.80738	-1.41;-1.41	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.170064	0.49916	D	0.000132	T	0.77798	0.4184	L	0.47716	1.5	0.33209	D	0.553221	B	0.17852	0.024	B	0.29353	0.101	T	0.78954	-0.2000	10	0.35671	T	0.21	.	15.3584	0.74448	1.0:0.0:0.0:0.0	.	329	Q6ZSM3	MOT12_HUMAN	T	329;359	ENSP00000343022:M329T;ENSP00000360855:M359T	ENSP00000343022:M329T	M	-	2	0	SLC16A12	91186009	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.339000	0.96797	2.217000	0.71921	0.482000	0.46254	ATG	.	.	.	none		0.453	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606	
MCMBP	79892	hgsc.bcm.edu	37	10	121602090	121602090	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:121602090A>T	ENST00000360003.3	-	10	1193	c.1024T>A	c.(1024-1026)Tcc>Acc	p.S342T	MCMBP_ENST00000369077.3_Missense_Mutation_p.S340T|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	342					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GACAATTCGGACATGAAACTT	0.438																																					p.S342T		Atlas-SNP	.											.	MCMBP	49	.	0			c.T1024A						PASS	.						110.0	100.0	103.0					10																	121602090		2203	4300	6503	SO:0001583	missense	79892	exon10			ATTCGGACATGAA	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1024T>A	chr10.hg19:g.121602090A>T	ENSP00000353098:p.Ser342Thr	95.0	0.0	.		65.0	32.0	.	NM_024834	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	hg19	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674108	0.47781	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	T;T	0.30981	1.51;1.51	5.83	4.67	0.58626	.	0.235203	0.45361	D	0.000375	T	0.20495	0.0493	L	0.38175	1.15	0.46774	D	0.999192	P	0.34462	0.454	B	0.24394	0.053	T	0.03051	-1.1078	10	0.15952	T	0.53	-19.2833	12.9785	0.58549	0.8649:0.1351:0.0:0.0	.	342	Q9BTE3	MCMBP_HUMAN	T	342;340	ENSP00000353098:S342T;ENSP00000358073:S340T	ENSP00000353098:S342T	S	-	1	0	MCMBP	121592080	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	2.129000	0.42055	0.998000	0.38996	0.482000	0.46254	TCC	.	.	.	none		0.438	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
BTBD16	118663	hgsc.bcm.edu	37	10	124066782	124066782	+	Silent	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr10:124066782G>A	ENST00000260723.4	+	10	1121	c.870G>A	c.(868-870)caG>caA	p.Q290Q	BTBD16_ENST00000368994.2_Silent_p.Q291Q	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	290										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ACAAGATTCAGGCAATTCCGA	0.333																																					p.Q290Q		Atlas-SNP	.											.	BTBD16	44	.	0			c.G870A						PASS	.						123.0	124.0	123.0					10																	124066782		2202	4300	6502	SO:0001819	synonymous_variant	118663	exon10			GATTCAGGCAATT	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.870G>A	chr10.hg19:g.124066782G>A		134.0	0.0	.		115.0	56.0	.	NM_144587	A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	hg19	CCDS31301.1																																																																																			.	.	.	none		0.333	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	
CD6	923	hgsc.bcm.edu	37	11	60774086	60774086	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr11:60774086C>G	ENST00000313421.7	+	2	276	c.90C>G	c.(88-90)agC>agG	p.S30R	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Missense_Mutation_p.S30R|CD6_ENST00000344028.5_Missense_Mutation_p.S30R|CD6_ENST00000352009.5_Missense_Mutation_p.S30R|CD6_ENST00000452451.2_Missense_Mutation_p.S30R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	30					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCAACACCAGCAGTGCAGAGA	0.567																																					p.S30R	Pancreas(169;904 2017 4767 38890 42505)	Atlas-SNP	.											.	CD6	122	.	0			c.C90G						PASS	.						83.0	75.0	78.0					11																	60774086		2203	4299	6502	SO:0001583	missense	923	exon2			CACCAGCAGTGCA		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.90C>G	chr11.hg19:g.60774086C>G	ENSP00000323280:p.Ser30Arg	60.0	0.0	.		70.0	26.0	.	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	hg19	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305211	0.40795	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T;T	0.01313	5.02;5.02;5.02;5.03;5.16;5.02;5.02	3.94	3.02	0.34903	.	2.954480	0.01768	N	0.030983	T	0.01976	0.0062	N	0.14661	0.345	0.09310	N	1	P;D;B;P;P	0.53151	0.92;0.958;0.053;0.93;0.93	P;P;B;B;B	0.46796	0.527;0.483;0.032;0.289;0.289	T	0.50980	-0.8763	10	0.37606	T	0.19	.	9.9286	0.41507	0.0:0.8994:0.0:0.1006	.	30;30;30;30;30	E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7	.;.;.;CD6_HUMAN;.	R	30	ENSP00000344108:S30R;ENSP00000345566:S30R;ENSP00000323280:S30R;ENSP00000440055:S30R;ENSP00000410638:S30R;ENSP00000390676:S30R;ENSP00000340628:S30R	ENSP00000323280:S30R	S	+	3	2	CD6	60530662	0.002000	0.14202	0.018000	0.16275	0.026000	0.11368	0.259000	0.18405	1.239000	0.43787	0.561000	0.74099	AGC	.	.	.	none		0.567	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725	
DYNC2H1	79659	hgsc.bcm.edu	37	11	103080609	103080609	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr11:103080609C>T	ENST00000375735.2	+	53	8603	c.8459C>T	c.(8458-8460)cCt>cTt	p.P2820L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P2820L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2820	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTTAGATACCTGAAATGTTA	0.254																																					p.P2820L		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.C8459T						PASS	.						46.0	43.0	44.0					11																	103080609		1405	3082	4487	SO:0001583	missense	79659	exon53			AGATACCTGAAAT	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8459C>T	chr11.hg19:g.103080609C>T	ENSP00000364887:p.Pro2820Leu	1697.0	1.0	.		1840.0	821.0	.	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249617	0.80024	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.29142	1.58;1.58	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.083808	0.48767	U	0.000170	T	0.46541	0.1398	M	0.84683	2.71	0.80722	D	1	P;P	0.46277	0.875;0.849	P;B	0.46026	0.501;0.368	T	0.58853	-0.7563	10	0.72032	D	0.01	.	15.7886	0.78332	0.0:1.0:0.0:0.0	.	2820;2820	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	2820	ENSP00000364887:P2820L;ENSP00000381167:P2820L	ENSP00000364887:P2820L	P	+	2	0	DYNC2H1	102585819	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.771000	0.62318	2.306000	0.77630	0.591000	0.81541	CCT	.	.	.	none		0.254	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
COL4A1	1282	hgsc.bcm.edu	37	13	110857716	110857716	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr13:110857716C>T	ENST00000375820.4	-	17	1062	c.941G>A	c.(940-942)gGc>gAc	p.G314D	COL4A1_ENST00000543140.1_Missense_Mutation_p.G314D	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	314	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCCTGGCGGCCTATGAGTCC	0.507																																					p.G314D		Atlas-SNP	.											.	COL4A1	372	.	0			c.G941A						PASS	.						75.0	86.0	83.0					13																	110857716		2203	4300	6503	SO:0001583	missense	1282	exon17			TGGCGGCCTATGA	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.941G>A	chr13.hg19:g.110857716C>T	ENSP00000364979:p.Gly314Asp	158.0	0.0	.		150.0	6.0	.	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	hg19	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111503	0.56398	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99353	-5.77;-5.77	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.98370	4.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97315	0.9940	10	0.87932	D	0	.	15.6631	0.77203	0.0:1.0:0.0:0.0	.	314	P02462	CO4A1_HUMAN	D	303;314;314;314	ENSP00000364979:G314D;ENSP00000443348:G314D	ENSP00000364973:G303D	G	-	2	0	COL4A1	109655717	0.987000	0.35691	0.169000	0.22859	0.061000	0.15899	4.641000	0.61375	2.498000	0.84270	0.551000	0.68910	GGC	.	.	.	none		0.507	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
FAM179B	23116	hgsc.bcm.edu	37	14	45542589	45542589	+	Missense_Mutation	SNP	A	A	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr14:45542589A>T	ENST00000361577.3	+	19	5202	c.4988A>T	c.(4987-4989)aAt>aTt	p.N1663I	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.N1716I	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1663										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATATGACAAATAGTGGCTCT	0.408																																					p.N1663I		Atlas-SNP	.											.	FAM179B	115	.	0			c.A4988T						PASS	.						119.0	123.0	122.0					14																	45542589		2203	4300	6503	SO:0001583	missense	23116	exon19			TGACAAATAGTGG	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4988A>T	chr14.hg19:g.45542589A>T	ENSP00000355045:p.Asn1663Ile	90.0	0.0	.		96.0	49.0	.	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058291	0.36277	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.66460	-0.21;-0.21;2.48	5.42	5.42	0.78866	Armadillo-type fold (1);	0.165528	0.53938	D	0.000052	T	0.52354	0.1729	N	0.22421	0.69	0.80722	D	1	P;P	0.47409	0.895;0.797	B;P	0.44359	0.319;0.447	T	0.49881	-0.8892	10	0.23891	T	0.37	-13.1397	9.3141	0.37924	0.9167:0.0:0.0833:0.0	.	1716;1663	G3XAE9;Q9Y4F4	.;F179B_HUMAN	I	1663;1716;98	ENSP00000355045:N1663I;ENSP00000354917:N1716I;ENSP00000450465:N98I	ENSP00000354917:N1716I	N	+	2	0	FAM179B	44612339	0.996000	0.38824	0.996000	0.52242	0.997000	0.91878	2.779000	0.47734	2.067000	0.61834	0.460000	0.39030	AAT	.	.	.	none		0.408	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
CENPT	80152	hgsc.bcm.edu	37	16	67860650	67860650	+	IGR	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr16:67860650G>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.S432N|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.S486N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.S417N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TTTGGGCCCAGTGATGCCATG	0.463																																					p.S432N		Atlas-SNP	.											.	TSNAXIP1	66	.	0			c.G1295A						PASS	.						104.0	112.0	109.0					16																	67860650		2198	4300	6498	SO:0001628	intergenic_variant	55815	exon12			GGCCCAGTGATGC	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			chr16.hg19:g.67860650G>A		104.0	0.0	.		141.0	76.0	.	NM_018430	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	hg19	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833505	0.16820	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.8	-3.79	0.04320	.	1.114660	0.06515	N	0.738666	T	0.11067	0.0270	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.0;0.0	T	0.22347	-1.0219	9	0.17369	T	0.5	0.071	3.3508	0.07151	0.3102:0.4161:0.1791:0.0946	.	417;486;222;140;432;417	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	N	417;432;222	.	ENSP00000373485:S432N	S	+	2	0	TSNAXIP1	66418151	0.001000	0.12720	0.228000	0.23943	0.984000	0.73092	-0.275000	0.08525	-0.443000	0.07180	-0.137000	0.14449	AGT	.	.	.	none		0.463	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	
FXR2	9513	hgsc.bcm.edu	37	17	7497273	7497273	+	Missense_Mutation	SNP	G	G	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr17:7497273G>T	ENST00000250113.7	-	11	1404	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	357						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CAAAGCCTGGGCATTGCTGAT	0.498																																					p.A357D		Atlas-SNP	.											.	FXR2	44	.	0			c.C1070A						PASS	.						72.0	70.0	71.0					17																	7497273		1893	4116	6009	SO:0001583	missense	9513	exon11			GCCTGGGCATTGC	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1070C>A	chr17.hg19:g.7497273G>T	ENSP00000250113:p.Ala357Asp	63.0	0.0	.		117.0	5.0	.	NM_004860	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	hg19	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102122	0.76983	.	.	ENSG00000129245	ENST00000250113	T	0.59502	0.26	5.52	5.52	0.82312	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.108232	0.64402	D	0.000007	T	0.76263	0.3963	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78884	-0.2028	10	0.87932	D	0	1.5053	10.2001	0.43077	0.0872:0.0:0.9128:0.0	.	357	P51116	FXR2_HUMAN	D	357	ENSP00000250113:A357D	ENSP00000250113:A357D	A	-	2	0	FXR2	7437998	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	3.139000	0.50577	2.873000	0.98535	0.563000	0.77884	GCC	.	.	.	none		0.498	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		
MYH10	4628	hgsc.bcm.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr17:8397110C>G	ENST00000269243.4	-	30	4195	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E1384Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587																																					p.E1384Q		Atlas-SNP	.											MYH10,NS,carcinoma,0,2	MYH10	148	.	0			c.G4150C						PASS	.						85.0	77.0	80.0					17																	8397110		2203	4300	6503	SO:0001583	missense	4628	exon32			CCTCCTCCTGCTG	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4057G>C	chr17.hg19:g.8397110C>G	ENSP00000269243:p.Glu1353Gln	57.0	2.0	.		74.0	5.0	.	NM_001256012	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	hg19	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496514	0.64186	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.2	4.22	0.49857	Myosin tail (1);	0.051659	0.85682	D	0.000000	D	0.93203	0.7835	M	0.90759	3.145	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.70016	0.967;0.959;0.967	D	0.94653	0.7841	10	0.87932	D	0	.	15.2172	0.73277	0.1418:0.8582:0.0:0.0	.	1362;1384;1353	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1353;1384;1374;1369	ENSP00000269243:E1353Q;ENSP00000353590:E1384Q;ENSP00000379539:E1374Q;ENSP00000369315:E1369Q	ENSP00000269243:E1353Q	E	-	1	0	MYH10	8337835	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.609000	0.82925	1.401000	0.46761	-0.181000	0.13052	GAG	.	.	.	none		0.587	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
KRTAP4-7	100132476	hgsc.bcm.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	T	rs9894106|rs553572799	byFrequency	TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr17:39240794C>T	ENST00000391417.4	+	1	336	c.336C>T	c.(334-336)ccC>ccT	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																					p.P112P		Atlas-SNP	.											KRTAP4-7,NS,carcinoma,0,1	KRTAP4-7	49	.	3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	NS(2)|prostate(1)	c.C336T						PASS	.						13.0	14.0	14.0					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476	exon1			CCGCCCCAGCTGC	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.336C>T	chr17.hg19:g.39240794C>T		15.0	1.0	.		21.0	5.0	.	NM_033061	A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	hg19	CCDS45673.1																																																																																			.	.	.	alt		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
HSPB9	94086	hgsc.bcm.edu	37	17	40275296	40275296	+	Missense_Mutation	SNP	C	C	T			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr17:40275296C>T	ENST00000355067.3	+	1	541	c.428C>T	c.(427-429)cCg>cTg	p.P143L	CTD-2132N18.3_ENST00000592574.1_Intron|KAT2A_ENST00000225916.5_5'Flank	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	143					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAAACAGGACCGTCCCCGAGA	0.632																																					p.P143L		Atlas-SNP	.											.	HSPB9	11	.	0			c.C428T						PASS	.						64.0	63.0	63.0					17																	40275296		2203	4300	6503	SO:0001583	missense	94086	exon1			CAGGACCGTCCCC	AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"""Heat shock proteins / HSPB"""	30589	protein-coding gene	gene with protein product	"""cancer/testis antigen 51"""	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.428C>T	chr17.hg19:g.40275296C>T	ENSP00000347178:p.Pro143Leu	35.0	0.0	.		66.0	40.0	.	NM_033194	B3KSG6|Q52LB4	Missense_Mutation	SNP	ENST00000355067.3	hg19	CCDS11418.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508520	0.44660	.	.	ENSG00000197723	ENST00000355067	D	0.87966	-2.32	3.68	-0.892	0.10570	.	1.627000	0.03475	N	0.214259	T	0.78704	0.4325	L	0.29908	0.895	0.09310	N	1	B	0.18610	0.029	B	0.10450	0.005	T	0.63296	-0.6669	10	0.72032	D	0.01	-1.2069	2.6526	0.05003	0.4657:0.2817:0.1565:0.0961	.	143	Q9BQS6	HSPB9_HUMAN	L	143	ENSP00000347178:P143L	ENSP00000347178:P143L	P	+	2	0	HSPB9	37528822	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.220000	0.02971	-0.090000	0.12462	-0.311000	0.09066	CCG	.	.	.	none		0.632	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	NM_033194	
GREB1L	80000	hgsc.bcm.edu	37	18	19029545	19029545	+	Missense_Mutation	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr18:19029545G>A	ENST00000580732.2	+	12	1849	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	GREB1L_ENST00000424526.1_Missense_Mutation_p.E490K|GREB1L_ENST00000431264.1_Missense_Mutation_p.E490K|SNORD23_ENST00000408212.1_RNA|GREB1L_ENST00000578368.1_3'UTR|GREB1L_ENST00000400483.4_Missense_Mutation_p.E490K|RP11-296E23.1_ENST00000584611.1_RNA|GREB1L_ENST00000269218.6_Intron			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	490						integral component of membrane (GO:0016021)		p.E491K(1)|p.E490K(1)		breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						TACTCTGAGAGAAAGAGCCCT	0.453																																					p.E490K		Atlas-SNP	.											KIAA1772,NS,carcinoma,0,2	GREB1L	69	.	2	Substitution - Missense(2)	breast(2)	c.G1468A						PASS	.						111.0	98.0	102.0					18																	19029545		692	1591	2283	SO:0001583	missense	80000	exon12			CTGAGAGAAAGAG	AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.1468G>A	chr18.hg19:g.19029545G>A	ENSP00000464162:p.Glu490Lys	80.0	2.0	.		85.0	51.0	.	NM_001142966	A4QN17|Q9H8F1	Missense_Mutation	SNP	ENST00000580732.2	hg19	CCDS45836.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180638	0.78677	.	.	ENSG00000141449	ENST00000424526;ENST00000400483;ENST00000431264	T;T;T	0.16743	3.08;2.32;2.32	5.72	5.72	0.89469	.	.	.	.	.	T	0.22166	0.0534	L	0.57536	1.79	0.45415	D	0.998393	P;P	0.40731	0.728;0.728	B;B	0.36092	0.217;0.217	T	0.01805	-1.1270	9	0.62326	D	0.03	5.5818	19.8611	0.96785	0.0:0.0:1.0:0.0	.	490;490	Q9C091;Q9C091-2	GRB1L_HUMAN;.	K	490	ENSP00000412060:E490K;ENSP00000383331:E490K;ENSP00000393125:E490K	ENSP00000383331:E490K	E	+	1	0	GREB1L	17283543	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.159000	0.77483	2.711000	0.92665	0.650000	0.86243	GAA	.	.	.	none		0.453	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2	NM_024935	
ABCA7	10347	hgsc.bcm.edu	37	19	1059025	1059025	+	Missense_Mutation	SNP	T	T	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr19:1059025T>A	ENST00000263094.6	+	40	5635	c.5404T>A	c.(5404-5406)Tac>Aac	p.Y1802N	ABCA7_ENST00000435683.2_Missense_Mutation_p.Y1664N|ABCA7_ENST00000433129.1_Missense_Mutation_p.Y1802N	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1802	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTCCCAGGTATACCGTGGGCA	0.617																																					p.Y1802N		Atlas-SNP	.											.	ABCA7	174	.	0			c.T5404A						PASS	.						84.0	74.0	78.0					19																	1059025		2202	4300	6502	SO:0001583	missense	10347	exon40			CAGGTATACCGTG	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5404T>A	chr19.hg19:g.1059025T>A	ENSP00000263094:p.Tyr1802Asn	101.0	0.0	.		116.0	51.0	.	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869028	0.51588	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97209	-4.29;-4.29	4.33	4.33	0.51752	ABC transporter-like (1);	.	.	.	.	D	0.99105	0.9692	H	0.99074	4.42	0.45837	D	0.998707	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.98583	1.0651	9	0.87932	D	0	.	12.4481	0.55662	0.0:0.0:0.0:1.0	.	927;1802	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	N	1802	ENSP00000263094:Y1802N;ENSP00000414062:Y1802N	ENSP00000263094:Y1802N	Y	+	1	0	ABCA7	1010025	0.999000	0.42202	0.805000	0.32314	0.084000	0.17831	3.373000	0.52394	1.814000	0.52955	0.459000	0.35465	TAC	.	.	.	none		0.617	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
ZNRF4	148066	hgsc.bcm.edu	37	19	5456739	5456739	+	Missense_Mutation	SNP	G	G	C	rs551914284		TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr19:5456739G>C	ENST00000222033.4	+	1	1314	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	413						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CACGTCCCTGGAGGCAGAGTA	0.642																																					p.E413Q		Atlas-SNP	.											.	ZNRF4	59	.	0			c.G1237C						PASS	.						20.0	22.0	21.0					19																	5456739		1995	4158	6153	SO:0001583	missense	148066	exon1			TCCCTGGAGGCAG	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1237G>C	chr19.hg19:g.5456739G>C	ENSP00000222033:p.Glu413Gln	104.0	0.0	.		102.0	45.0	.	NM_181710	A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	hg19	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	6.853	0.526610	0.13066	.	.	ENSG00000105428	ENST00000222033	T	0.04551	3.6	3.37	0.897	0.19258	.	2.318830	0.03673	U	0.244316	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.15870	0.014	T	0.38972	-0.9636	10	0.46703	T	0.11	-10.7443	3.2713	0.06883	0.145:0.0:0.5974:0.2576	.	413	Q8WWF5	ZNRF4_HUMAN	Q	413	ENSP00000222033:E413Q	ENSP00000222033:E413Q	E	+	1	0	ZNRF4	5407739	0.853000	0.29707	0.004000	0.12327	0.002000	0.02628	1.479000	0.35453	0.705000	0.31890	0.561000	0.74099	GAG	.	.	.	none		0.642	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710	
ZNF536	9745	hgsc.bcm.edu	37	19	31039523	31039523	+	Silent	SNP	A	A	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr19:31039523A>G	ENST00000355537.3	+	4	3144	c.2997A>G	c.(2995-2997)gcA>gcG	p.A999A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	999					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCATTGCATGGCACGGCT	0.567																																					p.A999A		Atlas-SNP	.											.	ZNF536	424	.	0			c.A2997G						PASS	.						74.0	70.0	72.0					19																	31039523		2203	4300	6503	SO:0001819	synonymous_variant	9745	exon4			CATTGCATGGCAC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2997A>G	chr19.hg19:g.31039523A>G		56.0	0.0	.		56.0	21.0	.	NM_014717	A2RU18	Silent	SNP	ENST00000355537.3	hg19	CCDS32984.1																																																																																			.	.	.	none		0.567	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
BACE2	25825	hgsc.bcm.edu	37	21	42551433	42551433	+	Intron	SNP	G	G	A			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr21:42551433G>A	ENST00000330333.6	+	1	775				PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000430327.2_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GACGGTGTCTGGGGTGAGTGA	0.607																																					p.P41P		Atlas-SNP	.											.	.	.	.	0			c.C123T						PASS	.						124.0	109.0	114.0					21																	42551433		2196	4275	6471	SO:0001627	intron_variant	191585	exon1			GTGTCTGGGGTGA	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10931G>A	chr21.hg19:g.42551433G>A		100.0	0.0	.		72.0	4.0	.	NM_182832	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	hg19	CCDS13668.1																																																																																			.	.	.	none		0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1		
GAB4	128954	hgsc.bcm.edu	37	22	17472825	17472825	+	Missense_Mutation	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr22:17472825T>C	ENST00000400588.1	-	2	523	c.416A>G	c.(415-417)gAc>gGc	p.D139G	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	139	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CTCATTCATGTCCTCCCTGGT	0.522																																					p.D139G		Atlas-SNP	.											.	GAB4	95	.	0			c.A416G						PASS	.						262.0	266.0	265.0					22																	17472825		2203	4300	6503	SO:0001583	missense	128954	exon2			TTCATGTCCTCCC	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.416A>G	chr22.hg19:g.17472825T>C	ENSP00000383431:p.Asp139Gly	77.0	0.0	.		85.0	50.0	.	NM_001037814		Missense_Mutation	SNP	ENST00000400588.1	hg19	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901215	0.33535	.	.	ENSG00000215568	ENST00000400588	T	0.15952	2.38	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.070922	0.64402	U	0.000018	T	0.35624	0.0938	M	0.84326	2.69	0.47407	D	0.999416	D	0.65815	0.995	P	0.61722	0.893	T	0.19844	-1.0293	10	0.72032	D	0.01	.	7.5812	0.27965	0.0:0.0:0.0:1.0	.	139	Q2WGN9	GAB4_HUMAN	G	139	ENSP00000383431:D139G	ENSP00000383431:D139G	D	-	2	0	GAB4	15852825	1.000000	0.71417	0.995000	0.50966	0.087000	0.18053	7.106000	0.77039	1.071000	0.40834	0.482000	0.46254	GAC	.	.	.	none		0.522	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882	
MAOA	4128	hgsc.bcm.edu	37	X	43603409	43603409	+	Silent	SNP	T	T	C			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chrX:43603409T>C	ENST00000338702.3	+	14	1551	c.1428T>C	c.(1426-1428)ccT>ccC	p.P476P	MAOA_ENST00000542639.1_Silent_p.P343P	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	476					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	TACAAGAACCTGAATCAAAGG	0.413																																					p.P476P		Atlas-SNP	.											.	MAOA	48	.	0			c.T1428C						PASS	.						144.0	127.0	133.0					X																	43603409		2203	4300	6503	SO:0001819	synonymous_variant	4128	exon14			AGAACCTGAATCA		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1428T>C	chrX.hg19:g.43603409T>C		62.0	0.0	.		56.0	52.0	.	NM_000240	B4DF46|Q16426	Silent	SNP	ENST00000338702.3	hg19	CCDS14260.1																																																																																			.	.	.	none		0.413	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240	
AR	367	hgsc.bcm.edu	37	X	66765228	66765229	+	Missense_Mutation	DNP	AG	AG	GC			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chrX:66765228_66765229AG>GC	ENST00000374690.3	+	1	764_765	c.240_241AG>GC	c.(238-243)caAGag>caGCag	p.E81Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.E81Q|AR_ENST00000504326.1_Missense_Mutation_p.E81Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	79	Gln-rich.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcaagagactagccc	0.644									Androgen Insensitivity Syndrome																												p.Q80Q|p.E81Q		Atlas-SNP	.											.	AR	249	.	0			c.A240G|c.G241C						PASS	.																																			SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	GCAGCAAGAGACT|CAGCAAGAGACTA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	Exception_encountered	chrX.hg19:g.66765228_66765229delinsGC	ENSP00000363822:p.Glu81Gln	74.0|75.0	0.0	.		116.0	15.0|10.0	.	NM_000044	A2RUN2|B1AKD7|Q9UD95	Silent|Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1																																																																																			.	.	.	none		0.644	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
RENBP	5973	hgsc.bcm.edu	37	X	153207005	153207005	+	Missense_Mutation	SNP	A	A	G			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chrX:153207005A>G	ENST00000393700.3	-	8	951	c.871T>C	c.(871-873)Ttc>Ctc	p.F291L	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.F277L|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	291					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CCGGAGTGGAAGGGCAACAAT	0.587																																					p.F291L		Atlas-SNP	.											.	RENBP	69	.	0			c.T871C						PASS	.						119.0	103.0	109.0					X																	153207005		2203	4300	6503	SO:0001583	missense	5973	exon8			AGTGGAAGGGCAA		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.871T>C	chrX.hg19:g.153207005A>G	ENSP00000377303:p.Phe291Leu	149.0	0.0	.		168.0	160.0	.	NM_002910	B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	hg19	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040112	0.35989	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.26518	1.73;1.73	5.15	5.15	0.70609	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.054270	0.64402	D	0.000001	T	0.35828	0.0945	L	0.35854	1.095	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.08432	-1.0722	10	0.10377	T	0.69	-19.6509	13.0214	0.58789	1.0:0.0:0.0:0.0	.	291	P51606	RENBP_HUMAN	L	291;277	ENSP00000377303:F291L;ENSP00000359014:F277L	ENSP00000359014:F277L	F	-	1	0	RENBP	152860199	0.998000	0.40836	0.935000	0.37517	0.724000	0.41520	3.764000	0.55264	1.714000	0.51371	0.356000	0.21956	TTC	.	.	.	none		0.587	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910	
NEB	4703	hgsc.bcm.edu	37	2	152359933	152359933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr2:152359933delC	ENST00000172853.10	-	138	18809	c.18662delG	c.(18661-18663)ggafs	p.G6221fs	NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Frame_Shift_Del_p.G7922fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.G7922fs|NEB_ENST00000509223.2_Frame_Shift_Del_p.G52fs|NEB_ENST00000397336.2_5'UTR|NEB_ENST00000427231.2_Frame_Shift_Del_p.G7922fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.G6221fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.G7922fs			P20929	NEBU_HUMAN	nebulin	6221					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGCCTGTTCCCAAGTTTTC	0.363																																					p.G7957fs		Atlas-INDEL	.											.	NEB	1697	.	0			c.23871delA						PASS	.						89.0	85.0	86.0					2																	152359933		1833	4091	5924	SO:0001589	frameshift_variant	4703	exon167			.	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18662delG	chr2.hg19:g.152359933delC	ENSP00000172853:p.Gly6221fs	113.0	0.0	0		91.0	43.0	0.472527	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	hg19																																																																																				.	.	.	none		0.363	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
COL6A2	1292	hgsc.bcm.edu	37	21	47545697	47545703	+	Splice_Site	DEL	TTGCAGG	TTGCAGG	-	rs539774519		TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	TTGCAGG	TTGCAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr21:47545697_47545703delTTGCAGG	ENST00000300527.4	+	26	2073_2078	c.1969_1974delTTGCAGG	c.(1969-1974)ttgcagdel	p.LQ657fs	COL6A2_ENST00000409416.1_Splice_Site_p.LQ657fs|COL6A2_ENST00000310645.5_Splice_Site_p.LQ657fs|COL6A2_ENST00000397763.1_Splice_Site_p.LQ657fs|COL6A2_ENST00000357838.4_Splice_Site_p.LQ657fs	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	657	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGCGGCTTGCAGGGACGCGTGTGGGCG	0.652																																					.		Atlas-Indel,Pindel	.											.	COL6A2	351	.	0			.						PASS	.																																			SO:0001630	splice_region_variant	1292	.			.	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1970-1TTGCAGG>-	chr21.hg19:g.47545697_47545703delTTGCAGG		68.0	0.0	0		51.0	20.0	0.392157	.	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Splice_Site	DEL	ENST00000300527.4	hg19	CCDS13728.1																																																																																			.	.	.	none		0.652	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		Frame_Shift_Del
NEB	4703	hgsc.bcm.edu	37	2	152359933	152359934	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-Y8-A8S0-01A-11D-A36X-10	TCGA-Y8-A8S0-10A-01D-A370-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1736e012-2ce0-46e4-ab85-bb0e9449a458	44329552-9eea-40f0-9170-8bc9c77aa51e	g.chr2:152359933_152359934delCC	ENST00000172853.10	-	138	18808_18809	c.18661_18662delGG	c.(18661-18663)ggafs	p.G6221fs	NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Frame_Shift_Del_p.G7922fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.G7922fs|NEB_ENST00000509223.2_Frame_Shift_Del_p.G52fs|NEB_ENST00000397336.2_5'UTR|NEB_ENST00000427231.2_Frame_Shift_Del_p.G7922fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.G6221fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.G7922fs			P20929	NEBU_HUMAN	nebulin	6221					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGCCTGTTCCCAAGTTTTCT	0.366																																					p.7957_7957del		Pindel	.											.	NEB	1697	.	0			c.23870_23871del						PASS	.																																			SO:0001589	frameshift_variant	4703	exon167			.	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18661_18662delGG	chr2.hg19:g.152359933_152359934delCC	ENSP00000172853:p.Gly6221fs	113.0	0.0	.		90.0	22.0	0.244	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	hg19																																																																																				.	.	.	none		0.366	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
