#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPEN	23013	broad.mit.edu	37	1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:16262301A>G	ENST00000375759.3	+	11	9770	c.9566A>G	c.(9565-9567)tAt>tGt	p.Y3189C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3189					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCACCCCTATACTGTGCCA	0.607																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9565-9567)tAt>tGt		spen family transcriptional repressor							72.0	65.0	68.0					1																	16262301		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262301A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9566A>G	1.37:g.16262301A>G	ENSP00000364912:p.Tyr3189Cys						p.Y3189C	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9770	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3189					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9566A>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345465	0.24426	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.07	5.07	0.68467	.	.	.	.	.	T	0.27933	0.0688	L	0.60455	1.87	0.42212	D	0.991814	D	0.76494	0.999	D	0.71414	0.973	T	0.01245	-1.1407	9	0.37606	T	0.19	-8.6994	14.8231	0.70087	1.0:0.0:0.0:0.0	.	3189	Q96T58	MINT_HUMAN	C	3189	ENSP00000364912:Y3189C	ENSP00000364912:Y3189C	Y	+	2	0	SPEN	16134888	1.000000	0.71417	0.952000	0.39060	0.342000	0.28953	3.131000	0.50515	1.898000	0.54952	0.482000	0.46254	TAT		0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	87	11	87	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24419567	24419567	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:24419567C>T	ENST00000374434.3	-	10	1122	c.960G>A	c.(958-960)aaG>aaA	p.K320K	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.K320K|MYOM3_ENST00000330966.7_Silent_p.K321K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	320	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTAGAGGATCTTCCGACGTC	0.627																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(961-963)aaG>aaA		myomesin 3							53.0	59.0	57.0					1																	24419567		1949	4127	6076	SO:0001819	synonymous_variant	127294							g.chr1:24419567C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.960G>A	1.37:g.24419567C>T						MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000329601.7_Silent_p.K320K	p.K321K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1125	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	320			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.963G>A	CCDS41281.1																																																																																				0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		7	38	7	38	---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	216					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCTTACACAATGGGCCCATC	0.532																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(646-648)aAt>aCt		hedgehog acyltransferase							76.0	72.0	74.0					1																	210577986		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577986A>C	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.647A>C	1.37:g.210577986A>C	ENSP00000355977:p.Asn216Thr					HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000541565.1_Intron	p.N216T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	874	+			216					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.647A>C	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988560	0.53934	.	.	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.62723	1.935	0.54753	D	0.999986	B;B;P;P	0.36768	0.096;0.078;0.569;0.513	B;B;B;B	0.38880	0.098;0.036;0.284;0.202	T	0.69191	-0.5210	10	0.33141	T	0.24	-25.3402	15.3723	0.74573	1.0:0.0:0.0:0.0	.	171;217;151;216	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	T	216;217;151;216;153;216;171;216;88	ENSP00000416845:N216T;ENSP00000438468:N217T;ENSP00000442625:N151T;ENSP00000375773:N216T;ENSP00000439229:N153T;ENSP00000261458:N216T;ENSP00000308628:N171T;ENSP00000355977:N216T;ENSP00000413399:N88T	ENSP00000261458:N216T	N	+	2	0	HHAT	208644609	1.000000	0.71417	0.998000	0.56505	0.737000	0.42083	8.233000	0.89799	2.107000	0.64212	0.482000	0.46254	AAT		0.532	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		11	89	11	89	---	---	---	---
RYBP	23429	broad.mit.edu	37	3	72495650	72495650	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:72495650G>A	ENST00000477973.2	-	1	419	c.420C>T	c.(418-420)caC>caT	p.H140H		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CAAGTACCTGGTGGAGGTGCC	0.438																																						ENST00000477973.2																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(418-420)caC>caT		RING1 and YY1 binding protein							71.0	68.0	69.0					3																	72495650		1878	4112	5990	SO:0001819	synonymous_variant	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72495650G>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.420C>T	3.37:g.72495650G>A							p.H140H	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	1	419	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)						Q9P2W5|Q9UMW4	Silent	SNP	ENST00000477973.2	37	c.420C>T																																																																																					0.438	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		4	32	4	32	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:93646107T>A	ENST00000394236.3	-	2	537	c.221A>T	c.(220-222)aAt>aTt	p.N74I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	74	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTCCGGGTCATTTTCAAAGAC	0.403																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(220-222)aAt>aTt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						110.0	107.0	108.0					3																	93646107		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646107T>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.221A>T	3.37:g.93646107T>A	ENSP00000377783:p.Asn74Ile					PROS1_ENST00000407433.1_5'UTR	p.N74I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			2	537	-			74			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.221A>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108905	0.77096	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99252	-5.63;-5.63	4.53	4.53	0.55603	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.173980	0.49916	D	0.000130	D	0.99542	0.9836	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98008	1.0364	10	0.87932	D	0	.	13.9809	0.64304	0.0:0.0:0.0:1.0	.	74	P07225	PROS_HUMAN	I	74;106	ENSP00000377783:N74I;ENSP00000330021:N106I	ENSP00000330021:N106I	N	-	2	0	PROS1	95128797	1.000000	0.71417	0.884000	0.34674	0.925000	0.55904	7.200000	0.77838	2.032000	0.59987	0.368000	0.22195	AAT		0.403	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		13	115	13	115	---	---	---	---
TIGD5	84948	broad.mit.edu	37	8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:144681434T>C	ENST00000504548.2	+	1	1361	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.L405P|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	454	DDE 2.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCTTCATGCTCAAGGACATG	0.667																																						ENST00000321385.3																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1213-1215)cTc>cCc		tigger transposable element derived 5							23.0	24.0	23.0					8																	144681434		2189	4290	6479	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681434T>C	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1361T>C	8.37:g.144681434T>C	ENSP00000421489:p.Leu454Pro					TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P	p.L405P			E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1361	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		454					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1214T>C	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	T	16.58	3.163734	0.57476	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.50277	0.75;0.75	4.3	4.3	0.51218	.	0.000000	0.50627	U	0.000114	T	0.60405	0.2266	L	0.48642	1.525	0.50813	D	0.999896	D	0.89917	1.0	D	0.77557	0.99	T	0.63888	-0.6535	10	0.87932	D	0	.	12.6665	0.56846	0.0:0.0:0.0:1.0	.	405	Q53EQ6	TIGD5_HUMAN	P	454;405	ENSP00000421489:L454P;ENSP00000315906:L405P	ENSP00000315906:L405P	L	+	2	0	TIGD5	144752577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.074000	0.57577	1.570000	0.49709	0.533000	0.62120	CTC		0.667	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		6	25	6	25	---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18313152	18313152	+	Silent	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:18313152T>C	ENST00000349215.3	-	16	2554	c.2277A>G	c.(2275-2277)ggA>ggG	p.G759G	HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000396253.3_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	759					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTCCACATGTCCACTGGTGC	0.433									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1933-1935)ggA>ggG		Hermansky-Pudlak syndrome 5							148.0	137.0	141.0					11																	18313152		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313152T>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2277A>G	11.37:g.18313152T>C						HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR	p.G645G	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			15	2397	-			759					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.1935A>G	CCDS7836.1																																																																																				0.433	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		11	123	11	123	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:56558126C>G	ENST00000267064.4	-	27	3615	c.3529G>C	c.(3529-3531)Gtt>Ctt	p.V1177L	SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1115L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1177	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGCCCTGAACAGCTGCCACA	0.662																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3343-3345)Gtt>Ctt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							34.0	37.0	36.0					12																	56558126		2196	4286	6482	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558126C>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3529G>C	12.37:g.56558126C>G	ENSP00000267064:p.Val1177Leu					SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L	p.V1115L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		29	3448	-			1079			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3343G>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824777	0.50739	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.44083	1.16;0.93;0.95	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.22589	0.0545	N	0.08118	0	0.27682	N	0.946426	B;B;B	0.16396	0.017;0.01;0.01	B;B;B	0.08055	0.003;0.001;0.002	T	0.09422	-1.0675	10	0.87932	D	0	-10.1663	8.4904	0.33098	0.0:0.8328:0.0:0.1672	.	1115;1119;1177	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	L	1115;1208;1177	ENSP00000377591:V1115L;ENSP00000449396:V1208L;ENSP00000267064:V1177L	ENSP00000267064:V1177L	V	-	1	0	SMARCC2	54844393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.495000	0.35627	2.639000	0.89480	0.563000	0.77884	GTT		0.662	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	108	7	108	---	---	---	---
PTPN9	5780	broad.mit.edu	37	15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr15:75801287G>C	ENST00000306726.2	-	6	1122	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCAGGAGGAGACTGATGATG	0.473																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(610-612)Ctc>Gtc		protein tyrosine phosphatase, non-receptor type 9							72.0	69.0	70.0					15																	75801287		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75801287G>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.610C>G	15.37:g.75801287G>C	ENSP00000303554:p.Leu204Val						p.L204V	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			6	1122	-			204			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.610C>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808279	0.50421	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	5.48	3.35	0.38373	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.133960	0.51477	N	0.000086	T	0.78323	0.4265	L	0.48877	1.53	0.48901	D	0.999724	P	0.41080	0.737	B	0.36289	0.221	T	0.76310	-0.3006	10	0.31617	T	0.26	.	12.6584	0.56799	0.0:0.1183:0.7447:0.137	.	204	P43378	PTN9_HUMAN	V	204;194	ENSP00000303554:L204V	ENSP00000303554:L204V	L	-	1	0	PTPN9	73588342	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.015000	0.64035	1.275000	0.44379	0.467000	0.42956	CTC		0.473	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			6	42	6	42	---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:14304154G>A	ENST00000341243.5	+	2	176	c.176G>A	c.(175-177)gGc>gAc	p.G59D	MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000571589.1_Missense_Mutation_p.G70D			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	59					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGACCAGGGCATCATGCCA	0.493																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(208-210)gGc>gAc		MKL/myocardin-like 2							187.0	140.0	156.0					16																	14304154		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14304154G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.176G>A	16.37:g.14304154G>A	ENSP00000345841:p.Gly59Asp					MKL2_ENST00000341243.5_Missense_Mutation_p.G59D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D	p.G70D	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			4	381	+			59					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.209G>A		.	.	.	.	.	.	.	.	.	.	g	35	5.436380	0.96168	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99855	-7.2;-7.2	5.68	5.68	0.88126	.	0.048575	0.85682	D	0.000000	D	0.99871	0.9939	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96908	0.9665	10	0.72032	D	0.01	-29.7831	19.1345	0.93420	0.0:0.0:1.0:0.0	.	19;70;59;70	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	D	70;59;59	ENSP00000339086:G70D;ENSP00000345841:G59D	ENSP00000339086:G70D	G	+	2	0	MKL2	14211655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.549000	0.98106	2.838000	0.97847	0.655000	0.94253	GGC		0.493	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		9	81	9	81	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	333					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATTTTCAGCAGAGCCTTAA	0.338																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(997-999)Gct>Tct		sperm associated antigen 9							94.0	85.0	88.0					17																	49097614		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49097614C>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.997G>T	17.37:g.49097614C>A	ENSP00000262013:p.Ala333Ser					SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S	p.A333S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		8	1205	-			333					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.997G>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748362	0.49257	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000511795	T;T;T;T	0.22134	1.97;1.98;1.98;1.98	5.37	4.19	0.49359	.	0.869884	0.10406	N	0.678492	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.21147	0.052;0.026;0.001;0.001;0.007;0.003	B;B;B;B;B;B	0.28916	0.046;0.096;0.009;0.004;0.018;0.007	T	0.38779	-0.9645	10	0.09338	T	0.73	-0.8009	6.2208	0.20681	0.0:0.7266:0.0:0.2734	.	319;333;319;333;319;176	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	S	333;89;75;75;176;319;319;3	ENSP00000262013:A333S;ENSP00000423165:A176S;ENSP00000426900:A319S;ENSP00000349636:A319S	ENSP00000262013:A333S	A	-	1	0	SPAG9	46452613	0.992000	0.36948	0.953000	0.39169	0.377000	0.30045	1.572000	0.36461	2.517000	0.84864	0.563000	0.77884	GCT		0.338	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		3	28	3	28	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1476					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCTCAACAGTGAACAGGTTT	0.294																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4426-4428)agT>agG		structural maintenance of chromosomes flexible hinge domain containing 1							72.0	71.0	71.0					18																	2760731		1814	4067	5881	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2760731T>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4428T>G	18.37:g.2760731T>G	ENSP00000326603:p.Ser1476Arg					RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R	p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			35	4766	+			1476					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4428T>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573151	0.65765	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27402	1.67;1.68	5.11	2.59	0.31030	.	0.082507	0.85682	D	0.000000	T	0.49372	0.1553	M	0.72894	2.215	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.44283	-0.9338	10	0.87932	D	0	-18.102	8.4493	0.32860	0.0:0.2153:0.0:0.7847	.	1476	A6NHR9	SMHD1_HUMAN	R	1476	ENSP00000326603:S1476R;ENSP00000261598:S1476R	ENSP00000261598:S1476R	S	+	3	2	SMCHD1	2750731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.008000	0.29872	0.330000	0.23485	0.533000	0.62120	AGT		0.294	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			3	46	3	46	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38934381	38934381	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr19:38934381C>T	ENST00000359596.3	+	5	369	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000355481.4_Silent_p.S123S|RYR1_ENST00000360985.3_Silent_p.S123S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	123	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCACCACCTCCCGCTCCATGA	0.647																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(367-369)tcC>tcT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						92.0	75.0	80.0					19																	38934381		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38934381C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.369C>T	19.37:g.38934381C>T						RYR1_ENST00000360985.3_Silent_p.S123S|RYR1_ENST00000359596.3_Silent_p.S123S	p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	500	+	all_cancers(60;7.91e-06)		123			MIR 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.369C>T	CCDS33011.1																																																																																				0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	93	9	93	---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39832183	39832183	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	458	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGTGTTAATGGGTGCCACAC	0.572																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1372-1374)ccC>ccT		zinc fingers and homeoboxes 3							62.0	50.0	54.0					20																	39832183		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832183G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1374C>T	20.37:g.39832183G>A						ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P	p.P458P			Q9H4I2	ZHX3_HUMAN			4	1789	-		Myeloproliferative disorder(115;0.00425)	458			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1374C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	5.698	0.313244	0.10789	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.07	-2.55	0.06288	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.50632	D	0.999884	.	.	.	.	.	.	T	0.35425	-0.9789	4	.	.	.	-21.0808	1.4327	0.02337	0.4268:0.1899:0.2219:0.1614	.	.	.	.	Y	167	.	.	H	-	1	0	ZHX3	39265597	0.630000	0.27155	0.990000	0.47175	0.980000	0.70556	-0.083000	0.11286	-0.035000	0.13691	-0.136000	0.14681	CAT		0.572	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		10	57	10	57	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104728369	104728369	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chrX:104728369T>A	ENST00000372582.1	+	6	1518	c.762T>A	c.(760-762)gaT>gaA	p.D254E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	254	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGTTATAGATGTCCAGCTGG	0.423																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(760-762)gaT>gaA		interleukin 1 receptor accessory protein-like 2							106.0	93.0	98.0					X																	104728369		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104728369T>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.762T>A	X.37:g.104728369T>A	ENSP00000361663:p.Asp254Glu					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			6	1518	+			254			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.762T>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	3.349	-0.132896	0.06711	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.75938	-0.98;-0.98	5.88	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186757	0.38164	N	0.001796	T	0.54382	0.1855	N	0.17474	0.49	0.80722	D	1	B	0.23591	0.088	B	0.27500	0.08	T	0.46707	-0.9172	10	0.02654	T	1	.	10.6795	0.45807	0.1452:0.0:0.0:0.8548	.	254	Q9NP60	IRPL2_HUMAN	E	254	ENSP00000361663:D254E;ENSP00000344976:D254E	ENSP00000344976:D254E	D	+	3	2	IL1RAPL2	104615025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.206000	0.58473	0.803000	0.34113	0.486000	0.48141	GAT		0.423	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		16	51	16	51	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:112486111_112486113delAGA	ENST00000261745.4	-	16	2111_2113	c.1863_1865delTCT	c.(1861-1866)cttcta>cta	p.621_622LL>L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	621						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGCTTCAAGTAGAAGGTCTAACA	0.399																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1861-1866)cttcta>cta		N(alpha)-acetyltransferase 25, NatB auxiliary subunit																																				SO:0001651	inframe_deletion	80018					cytoplasm	protein binding	g.chr12:112486111_112486113delAGA	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1863_1865delTCT	12.37:g.112486111_112486113delAGA	ENSP00000261745:p.Leu623del						p.621_622LL>L	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			16	2111_2113	-			621					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	In_Frame_Del	DEL	ENST00000261745.4	37	c.1863_1865delTCT	CCDS9159.1																																																																																				0.399	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		8	65	8	65	---	---	---	---
