#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MAP3K1	4214	broad.mit.edu	37	5	56168713	56168713	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr5:56168713G>A	ENST00000399503.3	+	9	1567	c.1567G>A	c.(1567-1569)Gta>Ata	p.V523I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	523					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCAGCAAACCGTACAGCAGCA	0.413																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1567-1569)Gta>Ata		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							79.0	76.0	77.0					5																	56168713		1878	4107	5985	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56168713G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1567G>A	5.37:g.56168713G>A	ENSP00000382423:p.Val523Ile						p.V523I	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	9	1567	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	523						Missense_Mutation	SNP	ENST00000399503.3	37	c.1567G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	2.737	-0.263163	0.05754	.	.	ENSG00000095015	ENST00000399503	T	0.63255	-0.03	5.58	-11.2	0.00127	.	3.368940	0.00757	N	0.001102	T	0.37732	0.1014	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	10	0.15952	T	0.53	.	2.7958	0.05401	0.1373:0.372:0.2955:0.1952	.	523	Q13233	M3K1_HUMAN	I	523	ENSP00000382423:V523I	ENSP00000382423:V523I	V	+	1	0	MAP3K1	56204470	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.847000	0.04331	-1.484000	0.01856	-1.223000	0.01593	GTA		0.413	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		3	34	0	0	0	1	0	3	34				
PPP4R1	9989	broad.mit.edu	37	18	9577161	9577161	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr18:9577161C>A	ENST00000400556.3	-	10	1020	c.947G>T	c.(946-948)gGa>gTa	p.G316V	PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Missense_Mutation_p.G299V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	316					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TATGAAAGGTCCCAGAGACTG	0.338																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(946-948)gGa>gTa		protein phosphatase 4, regulatory subunit 1							70.0	69.0	69.0					18																	9577161		1812	4070	5882	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9577161C>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.947G>T	18.37:g.9577161C>A	ENSP00000383402:p.Gly316Val					PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Missense_Mutation_p.G299V	p.G316V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			10	1020	-			316					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.947G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834005	0.91036	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.17854	2.25;2.25	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.124861	0.52532	D	0.000062	T	0.46756	0.1409	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.998	D;D;D	0.97110	1.0;0.95;0.978	T	0.37865	-0.9687	9	.	.	.	-32.512	18.9286	0.92554	0.0:1.0:0.0:0.0	.	299;316;299	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	V	316;299;227	ENSP00000383402:G316V;ENSP00000383401:G299V	.	G	-	2	0	PPP4R1	9567161	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.054000	0.76649	2.804000	0.96469	0.650000	0.86243	GGA		0.338	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		6	40	1	0	0.00116845	1	0.00123718	6	40				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		5	183	0	0	0	1	0	5	183				
BMP10	27302	broad.mit.edu	37	2	69092860	69092860	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:69092860T>A	ENST00000295379.1	-	2	1336	c.1178A>T	c.(1177-1179)aAg>aTg	p.K393M		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	393					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GGGCTCTAGCTTTGTGGGCAC	0.498																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(1177-1179)aAg>aTg		bone morphogenetic protein 10							163.0	161.0	162.0					2																	69092860		2203	4300	6503	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69092860T>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1178A>T	2.37:g.69092860T>A	ENSP00000295379:p.Lys393Met						p.K393M	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	1336	-			393					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.1178A>T	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319657	0.81469	.	.	ENSG00000163217	ENST00000295379	D	0.85339	-1.97	6.17	6.17	0.99709	Transforming growth factor-beta, C-terminal (3);	0.041544	0.85682	D	0.000000	D	0.94145	0.8122	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95225	0.8337	10	0.87932	D	0	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	393	O95393	BMP10_HUMAN	M	393	ENSP00000295379:K393M	ENSP00000295379:K393M	K	-	2	0	BMP10	68946364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAG		0.498	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		4	96	0	0	0	1	0	4	96				
SLC19A3	80704	broad.mit.edu	37	2	228564080	228564080	+	Silent	SNP	G	G	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:228564080G>A	ENST00000258403.3	-	3	422	c.351C>T	c.(349-351)acC>acT	p.T117T	SLC19A3_ENST00000541617.1_Silent_p.T113T|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	117					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.T117T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CCTCGGCGGCGGTGACCATCC	0.562																																						ENST00000258403.3																			1	Substitution - coding silent(1)	p.T117T(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(349-351)acC>acT		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						93.0	93.0	93.0					2																	228564080		2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228564080G>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.351C>T	2.37:g.228564080G>A						SLC19A3_ENST00000541617.1_Silent_p.T113T|SLC19A3_ENST00000409287.1_Intron	p.T117T	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	422	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	117						Silent	SNP	ENST00000258403.3	37	c.351C>T	CCDS2468.1																																																																																				0.562	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			12	46	0	0	0	1	0	12	46				
MAN2B2	23324	broad.mit.edu	37	4	6600070	6600070	+	Missense_Mutation	SNP	C	C	T	rs138386873		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr4:6600070C>T	ENST00000285599.3	+	9	1430	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A414V	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	465					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCACCCATGGCGGCCAGCTCC	0.652																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1393-1395)gCg>gTg		mannosidase, alpha, class 2B, member 2		C	VAL/ALA	0,4406		0,0,2203	38.0	37.0	37.0		1394	-3.1	0.0	4	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MAN2B2	NM_015274.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	465/1010	6600070	1,13005	2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6600070C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1394C>T	4.37:g.6600070C>T	ENSP00000285599:p.Ala465Val					MAN2B2_ENST00000504248.1_Missense_Mutation_p.A414V	p.A465V	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			9	1430	+			465					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1394C>T	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.056|5.056	0.196024|0.196024	0.09599|0.09599	0.0|0.0	1.16E-4|1.16E-4	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;D|.	0.84223|.	-1.39;-1.82|.	3.64|3.64	-3.07|-3.07	0.05363|0.05363	Glycoside hydrolase-type carbohydrate-binding (1);|.	4.746870|.	0.00166|.	N|.	0.000012|.	T|T	0.17365|0.17365	0.0417|0.0417	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.15719|.	0.014;0.006;0.01|.	B;B;B|.	0.11329|.	0.002;0.001;0.006|.	T|T	0.33085|0.33085	-0.9882|-0.9882	10|5	0.22706|.	T|.	0.39|.	-1.5481|-1.5481	10.4652|10.4652	0.44602|0.44602	0.0:0.1943:0.6988:0.1068|0.0:0.1943:0.6988:0.1068	.|.	414;465;465|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	V|W	465;414|464	ENSP00000285599:A465V;ENSP00000423129:A414V|.	ENSP00000285599:A465V|.	A|R	+|+	2|1	0|2	MAN2B2|MAN2B2	6650971|6650971	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.665000|-0.665000	0.05286|0.05286	-0.402000|-0.402000	0.07633|0.07633	-0.175000|-0.175000	0.13238|0.13238	GCG|CGG		0.652	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		6	18	0	0	0	1	0	6	18				
COMMD8	54951	broad.mit.edu	37	4	47455150	47455150	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr4:47455150C>T	ENST00000381571.4	-	4	524	c.457G>A	c.(457-459)Gta>Ata	p.V153I		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	153	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									large_intestine(2)|lung(5)|prostate(1)	8						TAAGGTTTTACTTCACCATTT	0.353																																						ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(457-459)Gta>Ata		COMM domain containing 8							104.0	102.0	103.0					4																	47455150		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47455150C>T	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.457G>A	4.37:g.47455150C>T	ENSP00000370984:p.Val153Ile						p.V153I	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			4	524	-			153			COMM.		Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.457G>A	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	C	7.914	0.737213	0.15574	.	.	ENSG00000169019	ENST00000381571	T	0.09538	2.97	6.16	3.08	0.35506	COMM domain (1);	0.501171	0.22649	N	0.057349	T	0.07098	0.0180	N	0.25485	0.75	0.09310	N	1	B	0.16166	0.016	B	0.19391	0.025	T	0.37731	-0.9693	10	0.20046	T	0.44	-24.7058	7.8664	0.29539	0.0:0.6656:0.136:0.1983	.	153	Q9NX08	COMD8_HUMAN	I	153	ENSP00000370984:V153I	ENSP00000370984:V153I	V	-	1	0	COMMD8	47149907	1.000000	0.71417	0.985000	0.45067	0.924000	0.55760	1.066000	0.30604	0.910000	0.36722	0.650000	0.86243	GTA		0.353	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		7	59	0	0	0	1	0	7	59				
NBPF1	55672	broad.mit.edu	37	1	16895621	16895621	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:16895621C>T	ENST00000430580.2	-	23	3448	c.2561G>A	c.(2560-2562)gGc>gAc	p.G854D	NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	854	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTGAAATGTGCCGCTGTAAGA	0.498																																						ENST00000430580.2																			0											c.(2560-2562)gGc>gAc		neuroblastoma breakpoint family, member 1							336.0	341.0	339.0					1																	16895621		2203	4300	6503	SO:0001583	missense	55672					cytoplasm		g.chr1:16895621C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2561G>A	1.37:g.16895621C>T	ENSP00000474456:p.Gly854Asp					NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	p.G854D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3448	-			854			NBPF 4.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2561G>A																																																																																					0.498	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		6	906	0	0	0	1	0	6	906				
NR4A3	8013	broad.mit.edu	37	9	102590458	102590458	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr9:102590458C>T	ENST00000395097.2	+	3	863	c.134C>T	c.(133-135)aCt>aTt	p.T45I	NR4A3_ENST00000330847.1_Missense_Mutation_p.T56I|NR4A3_ENST00000338488.4_Missense_Mutation_p.T45I	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	45					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CTTGGCAGCACTGAGATCACG	0.567			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(166-168)aCt>aTt		nuclear receptor subfamily 4, group A, member 3							161.0	125.0	137.0					9																	102590458		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590458C>T	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.134C>T	9.37:g.102590458C>T	ENSP00000378531:p.Thr45Ile					NR4A3_ENST00000395097.2_Missense_Mutation_p.T45I|NR4A3_ENST00000338488.4_Missense_Mutation_p.T45I	p.T56I			Q92570	NR4A3_HUMAN			2	211	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	45					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.167C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991442	0.74703	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.92099	-2.87;-2.51;-2.97	5.77	5.77	0.91146	.	1.714010	0.02277	N	0.069074	D	0.93112	0.7807	L	0.55481	1.735	0.41161	D	0.986095	B;B;P	0.36909	0.27;0.177;0.573	B;B;B	0.39258	0.106;0.049;0.295	T	0.76228	-0.3036	10	0.29301	T	0.29	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	56;45;45	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	I	45;45;56	ENSP00000378531:T45I;ENSP00000340301:T45I;ENSP00000333122:T56I	ENSP00000333122:T56I	T	+	2	0	NR4A3	101630279	1.000000	0.71417	0.970000	0.41538	0.876000	0.50452	5.013000	0.64023	2.720000	0.93068	0.557000	0.71058	ACT		0.567	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			4	49	0	0	0	1	0	4	49				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	24	0	0	0	1	0	3	24				
MFSD11	79157	broad.mit.edu	37	17	74738072	74738072	+	Silent	SNP	C	C	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr17:74738072C>T	ENST00000588460.1	+	4	2324	c.282C>T	c.(280-282)atC>atT	p.I94I	MFSD11_ENST00000593181.1_Silent_p.I94I|MFSD11_ENST00000590514.1_Silent_p.I94I|MFSD11_ENST00000586622.1_Silent_p.I94I|MFSD11_ENST00000355954.3_Silent_p.I94I|MFSD11_ENST00000336509.4_Silent_p.I94I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	94						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CCGTTTTCATCCAGCCTTTCC	0.398																																						ENST00000588460.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.(280-282)atC>atT		major facilitator superfamily domain containing 11							351.0	302.0	319.0					17																	74738072		2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74738072C>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.282C>T	17.37:g.74738072C>T						MFSD11_ENST00000593181.1_Silent_p.I94I|MFSD11_ENST00000590514.1_Silent_p.I94I|MFSD11_ENST00000586622.1_Silent_p.I94I|MFSD11_ENST00000355954.3_Silent_p.I94I|MFSD11_ENST00000336509.4_Silent_p.I94I	p.I94I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN			4	2324	+			94					O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.282C>T	CCDS11750.1																																																																																				0.398	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		4	168	0	0	0	1	0	4	168				
DPPA3P2	400206	broad.mit.edu	37	14	36840970	36840970	+	RNA	SNP	G	G	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr14:36840970G>A	ENST00000557188.1	+	0	601									developmental pluripotency associated 3 pseudogene 2																		AACAAACAAGGAGCCTAAGGG	0.438																																						ENST00000557188.1																			0																																																			0							g.chr14:36840970G>A			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36840970G>A														0	601	+									RNA	SNP	ENST00000557188.1	37																																																																																						0.438	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			8	77	0	0	0	1	0	8	77				
MAT1A	4143	broad.mit.edu	37	10	82036308	82036308	+	Missense_Mutation	SNP	C	C	G	rs374844302		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr10:82036308C>G	ENST00000372213.3	-	6	852	c.592G>C	c.(592-594)Gtg>Ctg	p.V198L	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	198					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGATGCGCACAGGGATGACT	0.577																																						ENST00000372213.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(592-594)Gtg>Ctg		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						200.0	158.0	172.0					10																	82036308		2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036308C>G		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.592G>C	10.37:g.82036308C>G	ENSP00000361287:p.Val198Leu						p.V198L	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	Colorectal(32;0.229)		6	852	-			198					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.592G>C	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	0.848	-0.739590	0.03088	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.82711	-1.64;-1.64	4.84	-0.288	0.12855	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.479628	0.24463	N	0.038305	T	0.61515	0.2353	N	0.13327	0.33	0.25369	N	0.988712	B	0.02656	0.0	B	0.04013	0.001	T	0.43507	-0.9387	10	0.15066	T	0.55	-8.1634	5.6357	0.17536	0.0:0.5022:0.2642:0.2336	.	198	Q00266	METK1_HUMAN	L	198;198;135	ENSP00000361287:V198L;ENSP00000414961:V135L	ENSP00000361280:V198L	V	-	1	0	MAT1A	82026288	0.000000	0.05858	0.022000	0.16811	0.997000	0.91878	-0.441000	0.06879	-0.128000	0.11641	0.655000	0.94253	GTG		0.577	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		9	119	0	0	0	1	0	9	119				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR329-1_ENST00000385028.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR380_ENST00000362112.2_RNA|MIR329-2_ENST00000385029.1_RNA|MIR299_ENST00000385016.2_RNA|MIR758_ENST00000390227.1_RNA|MIR323A_ENST00000362199.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		4	129	0	0	0	1	0	4	129				
TRPA1	8989	broad.mit.edu	37	8	72973925	72973925	+	Silent	SNP	C	C	T	rs377547475		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr8:72973925C>T	ENST00000262209.4	-	7	1086	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	293					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAATAGGACGATATCATCA	0.423																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(877-879)tcG>tcA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	C		0,4406		0,0,2203	220.0	175.0	190.0		879	-9.9	0.0	8		190	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRPA1	NM_007332.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		293/1120	72973925	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72973925C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.879G>A	8.37:g.72973925C>T							p.S293S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		7	1086	-			293					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.879G>A	CCDS34908.1																																																																																				0.423	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		5	47	0	0	0	1	0	5	47				
COL11A1	1301	broad.mit.edu	37	1	103405948	103405948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:103405948G>A	ENST00000370096.3	-	43	3631	c.3319C>T	c.(3319-3321)Caa>Taa	p.Q1107*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1068*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q991*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q1119*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1107	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.Q1119E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGGACCTTGAACTCCATCT	0.493																																						ENST00000358392.2																			1	Substitution - Missense(1)	p.Q1119E(1)	upper_aerodigestive_tract(1)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3355-3357)Caa>Taa		collagen, type XI, alpha 1							61.0	66.0	64.0					1																	103405948		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103405948G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3319C>T	1.37:g.103405948G>A	ENSP00000359114:p.Gln1107*					COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1068*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q991*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1107*	p.Q1119*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	43	3672	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1107			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.3355C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	44	11.209114	0.99531	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.3174	0.94220	0.0:0.0:1.0:0.0	.	.	.	.	X	1107;1119;1068;327;991	.	ENSP00000302551:Q1068X	Q	-	1	0	COL11A1	103178536	1.000000	0.71417	0.828000	0.32881	0.970000	0.65996	9.835000	0.99442	2.569000	0.86673	0.650000	0.86243	CAA		0.493	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	25	0	0	0	1	0	7	25				
NOTCH2	4853	broad.mit.edu	37	1	120468195	120468195	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:120468195G>A	ENST00000256646.2	-	25	4463	c.4244C>T	c.(4243-4245)aCg>aTg	p.T1415M	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1415					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGGGTGCCGTGTAGAGTTC	0.642			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4243-4245)aCg>aTg		notch 2							48.0	51.0	50.0					1																	120468195		2202	4300	6502	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120468195G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4244C>T	1.37:g.120468195G>A	ENSP00000256646:p.Thr1415Met						p.T1415M	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4463	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1415					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4244C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303825	0.10678	.	.	ENSG00000134250	ENST00000256646	T	0.43294	0.95	5.54	-1.18	0.09617	.	0.824190	0.09948	N	0.735059	T	0.12178	0.0296	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.30078	T	0.28	.	7.0636	0.25139	0.5102:0.1199:0.3698:0.0	.	1415	Q04721	NOTC2_HUMAN	M	1415	ENSP00000256646:T1415M	ENSP00000256646:T1415M	T	-	2	0	NOTCH2	120269718	0.000000	0.05858	0.000000	0.03702	0.352000	0.29268	-0.729000	0.04920	-0.243000	0.09653	-0.367000	0.07326	ACG		0.642	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		4	56	0	0	0	1	0	4	56				
PLA2R1	22925	broad.mit.edu	37	2	160833917	160833917	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:160833917G>A	ENST00000283243.7	-	15	2485	c.2279C>T	c.(2278-2280)tCg>tTg	p.S760L	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S760L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	760	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTCTAAAAACGAAGAGACAAC	0.388																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2278-2280)tCg>tTg		phospholipase A2 receptor 1, 180kDa							107.0	99.0	102.0					2																	160833917		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160833917G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2279C>T	2.37:g.160833917G>A	ENSP00000283243:p.Ser760Leu					PLA2R1_ENST00000392771.1_Missense_Mutation_p.S760L	p.S760L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			15	2485	-			760			C-type lectin 4.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2279C>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282275	0.80692	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.17854	2.25;2.25	5.22	5.22	0.72569	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.078774	0.52532	D	0.000063	T	0.33585	0.0868	L	0.50333	1.59	0.58432	D	0.999997	P;D;D	0.89917	0.891;1.0;1.0	B;D;D	0.71414	0.364;0.97;0.973	T	0.03268	-1.1054	10	0.12430	T	0.62	.	17.5612	0.87908	0.0:0.0:1.0:0.0	.	760;760;760	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	L	760	ENSP00000283243:S760L;ENSP00000376524:S760L	ENSP00000283243:S760L	S	-	2	0	PLA2R1	160542163	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.057000	0.89457	2.434000	0.82447	0.655000	0.94253	TCG		0.388	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			5	77	0	0	0	1	0	5	77				
LRIT2	340745	broad.mit.edu	37	10	85981739	85981739	+	Silent	SNP	G	G	A	rs374527427		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr10:85981739G>A	ENST00000372113.4	-	3	1595	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	LRIT2_ENST00000538192.1_Silent_p.D540D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	530						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCCCTTCACCGTCATCACAGA	0.587																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1588-1590)gaC>gaT		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							144.0	123.0	130.0					10																	85981739		2203	4300	6503	SO:0001819	synonymous_variant	340745					integral to membrane		g.chr10:85981739G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1590C>T	10.37:g.85981739G>A						LRIT2_ENST00000538192.1_Silent_p.D540D	p.D530D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1595	-			530					B7ZME6	Silent	SNP	ENST00000372113.4	37	c.1590C>T	CCDS31234.1																																																																																				0.587	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		5	69	0	0	0	1	0	5	69				
VASN	114990	broad.mit.edu	37	16	4432517	4432517	+	Missense_Mutation	SNP	G	G	A	rs199502520		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr16:4432517G>A	ENST00000304735.3	+	2	1794	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	547	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						GCCGGAGGGCGAGGAGGCCTG	0.711																																						ENST00000304735.3																			0				breast(1)|lung(3)|prostate(1)|skin(1)	6						c.(1639-1641)Gag>Aag		vasorin		G	,,,,LYS/GLU	1,4297		0,1,2148	8.0	13.0	11.0		,,,,1639	2.9	0.6	16		11	0,8512		0,0,4256	yes	intron,intron,intron,intron,missense	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,56	0,1,6404	AA,AG,GG		0.0,0.0233,0.0078	,,,,possibly-damaging	,,,,547/674	4432517	1,12809	2149	4256	6405	SO:0001583	missense	114990					extracellular region|integral to membrane		g.chr16:4432517G>A	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1639G>A	16.37:g.4432517G>A	ENSP00000306864:p.Glu547Lys					CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron	p.E547K	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN			2	1794	+			547			Fibronectin type-III.		Q6UXL4|Q6UXL5|Q96CX1	Missense_Mutation	SNP	ENST00000304735.3	37	c.1639G>A	CCDS10514.1	.	.	.	.	.	.	.	.	.	.	G	6.660	0.490300	0.12702	2.33E-4	0.0	ENSG00000168140	ENST00000304735	T	0.55930	0.49	4.88	2.93	0.34026	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.406223	0.24345	N	0.039332	T	0.26484	0.0647	N	0.08118	0	0.29024	N	0.886123	B	0.11235	0.004	B	0.04013	0.001	T	0.16482	-1.0401	10	0.15066	T	0.55	-12.0811	7.4403	0.27179	0.1805:0.0:0.8195:0.0	.	547	Q6EMK4	VASN_HUMAN	K	547	ENSP00000306864:E547K	ENSP00000306864:E547K	E	+	1	0	VASN	4372518	0.973000	0.33851	0.597000	0.28824	0.258000	0.26162	3.487000	0.53222	0.675000	0.31264	0.655000	0.94253	GAG		0.711	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		3	4	0	0	0	1	0	3	4				
ZNF846	162993	broad.mit.edu	37	19	9869005	9869005	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr19:9869005C>T	ENST00000397902.2	-	6	1161	c.748G>A	c.(748-750)Gga>Aga	p.G250R	ZNF846_ENST00000588267.1_Missense_Mutation_p.G121R|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.G121R	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GGCTTCTCTCCACTGTGAATT	0.383																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(748-750)Gga>Aga		zinc finger protein 846							89.0	95.0	93.0					19																	9869005		2101	4247	6348	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869005C>T	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.748G>A	19.37:g.9869005C>T	ENSP00000380999:p.Gly250Arg					ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Missense_Mutation_p.G121R|ZNF846_ENST00000592859.1_Missense_Mutation_p.G121R	p.G250R	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1161	-			250					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.748G>A	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.207490	0.79240	.	.	ENSG00000196605	ENST00000397902	T	0.01629	4.72	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07548	0.0190	M	0.73319	2.225	0.30070	N	0.810153	D	0.89917	1.0	D	0.87578	0.998	T	0.04885	-1.0920	8	.	.	.	.	8.5337	0.33351	0.0:1.0:0.0:0.0	.	250	Q147U1	ZN846_HUMAN	R	250	ENSP00000380999:G250R	.	G	-	1	0	ZNF846	9730005	0.001000	0.12720	0.008000	0.14137	0.836000	0.47400	1.380000	0.34351	1.037000	0.40024	0.456000	0.33151	GGA		0.383	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		7	62	0	0	0	1	0	7	62				
ANK2	287	broad.mit.edu	37	4	114279456	114279456	+	Missense_Mutation	SNP	G	G	A	rs141013157	byFrequency	TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr4:114279456G>A	ENST00000357077.4	+	38	9735	c.9682G>A	c.(9682-9684)Gtg>Atg	p.V3228M	ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3228					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTCCCCACCGTGCAAACGGG	0.488													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		18646	0.001		0.0	False		,,,				2504	0.0					ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9682-9684)Gtg>Atg		ankyrin 2, neuronal							85.0	80.0	81.0					4																	114279456		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279456G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9682G>A	4.37:g.114279456G>A	ENSP00000349588:p.Val3228Met					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	p.V3228M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9735	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3195					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9682G>A	CCDS3702.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	0.006	-2.107305	0.00356	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96200	-0.29;-0.3;-3.94	5.46	-8.69	0.00855	.	0.855681	0.10319	N	0.689001	T	0.79511	0.4458	N	0.01874	-0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.72727	-0.4206	10	0.22706	T	0.39	.	3.7681	0.08630	0.2916:0.3374:0.2878:0.0831	.	3195;3228	Q01484;Q01484-4	ANK2_HUMAN;.	M	3228;3195;238	ENSP00000349588:V3228M;ENSP00000264366:V3195M;ENSP00000422498:V238M	ENSP00000264366:V3195M	V	+	1	0	ANK2	114498905	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.419000	0.07071	-0.961000	0.03609	-0.414000	0.06135	GTG		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	36	0	0	0	1	0	5	36				
IGKV2D-29	28882	broad.mit.edu	37	2	89986987	89986987	+	RNA	SNP	A	A	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:89986987A>T	ENST00000491977.1	+	0	298									immunoglobulin kappa variable 2D-29																		GTTCAGTGGCAGCGGGTCAGG	0.512																																						ENST00000491977.1																			0																				40.0	48.0	46.0					2																	89986987		1829	4073	5902			0							g.chr2:89986987A>T	M31952		2p11.2	2012-02-08			ENSG00000243264	ENSG00000243264		"""Immunoglobulins / IGK locus"""	5800	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151619		2.37:g.89986987A>T														0	298	+									RNA	SNP	ENST00000491977.1	37																																																																																						0.512	IGKV2D-29-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323291.1	NG_000833		6	59	0	0	0	1	0	6	59				
TGFBRAP1	9392	broad.mit.edu	37	2	105900818	105900818	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:105900818A>G	ENST00000393359.2	-	5	1502	c.1076T>C	c.(1075-1077)aTa>aCa	p.I359T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.I359T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	359					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCAAACTGTATAAATCCCGC	0.463																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1075-1077)aTa>aCa		transforming growth factor, beta receptor associated protein 1							123.0	117.0	119.0					2																	105900818		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105900818A>G	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1076T>C	2.37:g.105900818A>G	ENSP00000377027:p.Ile359Thr					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.I359T	p.I359T			Q8WUH2	TGFA1_HUMAN			5	1502	-			359					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1076T>C	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830366	0.91036	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.42900	0.96;0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	L	0.57536	1.79	0.80722	D	1	P	0.34615	0.459	B	0.34489	0.184	T	0.23119	-1.0197	10	0.22706	T	0.39	-20.5648	15.9765	0.80071	1.0:0.0:0.0:0.0	.	359	Q8WUH2	TGFA1_HUMAN	T	359	ENSP00000377027:I359T;ENSP00000258449:I359T	ENSP00000258449:I359T	I	-	2	0	TGFBRAP1	105267250	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	9.310000	0.96267	2.172000	0.68678	0.533000	0.62120	ATA		0.463	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		11	136	0	0	0	1	0	11	136				
CPT2	1376	broad.mit.edu	37	1	53676058	53676058	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:53676058G>A	ENST00000371486.3	+	4	1227	c.712G>A	c.(712-714)Gac>Aac	p.D238N	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	238					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTCACTGATGACAAGGCCAG	0.473																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(712-714)Gac>Aac		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						76.0	75.0	75.0					1																	53676058		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676058G>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.712G>A	1.37:g.53676058G>A	ENSP00000360541:p.Asp238Asn						p.D238N	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1227	+			238					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.712G>A	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965292	0.34659	.	.	ENSG00000157184	ENST00000371486	D	0.89270	-2.49	5.5	3.6	0.41247	.	0.532996	0.22903	N	0.054237	T	0.81702	0.4878	L	0.38649	1.16	0.28665	N	0.905925	B	0.31705	0.336	B	0.29440	0.102	T	0.71922	-0.4446	10	0.34782	T	0.22	-0.9704	9.6775	0.40050	0.0737:0.0:0.7844:0.1419	.	238	P23786	CPT2_HUMAN	N	238	ENSP00000360541:D238N	ENSP00000360541:D238N	D	+	1	0	CPT2	53448646	1.000000	0.71417	0.002000	0.10522	0.885000	0.51271	5.291000	0.65667	0.654000	0.30846	-0.188000	0.12872	GAC		0.473	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		6	42	0	0	0	1	0	6	42				
FAM199X	139231	broad.mit.edu	37	X	103420367	103420367	+	Silent	SNP	A	A	G			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chrX:103420367A>G	ENST00000493442.1	+	2	427	c.261A>G	c.(259-261)tcA>tcG	p.S87S		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	87										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGCTGTTTTCATCTGTGTCTG	0.423																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(259-261)tcA>tcG		family with sequence similarity 199, X-linked							219.0	171.0	188.0					X																	103420367		2203	4300	6503	SO:0001819	synonymous_variant	139231							g.chrX:103420367A>G	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.261A>G	X.37:g.103420367A>G							p.S87S	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			2	427	+			87					Q8WVP6|Q96AV3	Silent	SNP	ENST00000493442.1	37	c.261A>G	CCDS35364.1																																																																																				0.423	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		4	38	0	0	0	1	0	4	38				
ATP2B2	491	broad.mit.edu	37	3	10491116	10491116	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr3:10491116G>A	ENST00000352432.4	-	1	181	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R38W|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R38W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R38W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	38					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCAGTGCCCCGCAGCTCCATG	0.552																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(112-114)Cgg>Tgg		ATPase, Ca++ transporting, plasma membrane 2							101.0	93.0	96.0					3																	10491116		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10491116G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.112C>T	3.37:g.10491116G>A	ENSP00000324172:p.Arg38Trp					ATP2B2_ENST00000383800.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R38W	p.R38W			Q01814	AT2B2_HUMAN			4	687	-			38					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.112C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348260	0.82132	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	D;D;D;D;D	0.93604	-3.24;-3.25;-3.25;-3.24;-3.24	4.77	3.87	0.44632	.	0.000000	0.64402	D	0.000001	D	0.96358	0.8812	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.981;0.983	D	0.96217	0.9157	10	0.87932	D	0	-25.5086	11.8529	0.52422	0.0:0.0:0.8236:0.1764	.	38;50;38	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	W	38;38;38;38;38;4;38	ENSP00000324172:R38W;ENSP00000373311:R38W;ENSP00000380267:R38W;ENSP00000353414:R38W;ENSP00000344677:R38W	ENSP00000342954:R38W	R	-	1	2	ATP2B2	10466116	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	2.754000	0.47532	0.954000	0.37851	0.462000	0.41574	CGG		0.552	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		5	42	0	0	0	1	0	5	42				
MS4A5	64232	broad.mit.edu	37	11	60201358	60201358	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr11:60201358A>T	ENST00000300190.2	+	4	546	c.460A>T	c.(460-462)Agt>Tgt	p.S154C	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	154						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TCACCAAAATAGTCAGTGTAA	0.363																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(460-462)Agt>Tgt		membrane-spanning 4-domains, subfamily A, member 5							205.0	194.0	198.0					11																	60201358		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60201358A>T	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.460A>T	11.37:g.60201358A>T	ENSP00000300190:p.Ser154Cys					MS4A5_ENST00000534071.1_3'UTR	p.S154C	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			4	546	+			154					Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.460A>T	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	A	9.280	1.047827	0.19827	.	.	ENSG00000166930	ENST00000300190	T	0.02498	4.27	3.99	-1.17	0.09648	.	2.188160	0.01534	N	0.018918	T	0.08670	0.0215	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.54372	0.75	T	0.24440	-1.0160	10	0.56958	D	0.05	2.9619	3.1821	0.06588	0.3982:0.0:0.3953:0.2065	.	154	Q9H3V2	MS4A5_HUMAN	C	154	ENSP00000300190:S154C	ENSP00000300190:S154C	S	+	1	0	MS4A5	59957934	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.135000	0.15952	-0.077000	0.12752	0.533000	0.62120	AGT		0.363	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			11	64	0	0	0	1	0	11	64				
ERICH3	127254	broad.mit.edu	37	1	75038795	75038795	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:75038795C>T	ENST00000326665.5	-	14	2817	c.2599G>A	c.(2599-2601)Gct>Act	p.A867T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		867	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGACCCACAGCATCTTTTGCT	0.537																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2599-2601)Gct>Act		chromosome 1 open reading frame 173							177.0	175.0	176.0					1																	75038795		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038795C>T																												ENST00000326665.5:c.2599G>A	1.37:g.75038795C>T	ENSP00000322609:p.Ala867Thr					C1orf173_ENST00000433746.2_5'UTR	p.A867T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2817	-			867			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2599G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024691	0.35701	.	.	ENSG00000178965	ENST00000326665	T	0.12879	2.64	5.5	-1.44	0.08856	.	.	.	.	.	T	0.02047	0.0064	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.46148	-0.9212	9	0.31617	T	0.26	-1.6327	3.058	0.06190	0.2851:0.4463:0.151:0.1176	.	867	Q5RHP9	CA173_HUMAN	T	867	ENSP00000322609:A867T	ENSP00000322609:A867T	A	-	1	0	C1orf173	74811383	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.525000	0.06214	0.034000	0.15491	-1.087000	0.02190	GCT		0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			8	114	0	0	0	1	0	8	114				
FLG2	388698	broad.mit.edu	37	1	152327338	152327338	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:152327338C>T	ENST00000388718.5	-	3	2996	c.2924G>A	c.(2923-2925)gGa>gAa	p.G975E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	975	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCATGTTGTCCAAAGCCAGA	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2923-2925)gGa>gAa		filaggrin family member 2							259.0	261.0	260.0					1																	152327338		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327338C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2924G>A	1.37:g.152327338C>T	ENSP00000373370:p.Gly975Glu					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G975E	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2996	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		975			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2924G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.491	-0.554567	0.03996	.	.	ENSG00000143520	ENST00000388718	T	0.02974	4.09	4.63	2.66	0.31614	.	.	.	.	.	T	0.01092	0.0036	L	0.58428	1.81	0.09310	N	1	P	0.37015	0.578	B	0.32211	0.142	T	0.48670	-0.9015	9	0.33940	T	0.23	-0.2025	6.8355	0.23933	0.0:0.7742:0.0:0.2258	.	975	Q5D862	FILA2_HUMAN	E	975	ENSP00000373370:G975E	ENSP00000373370:G975E	G	-	2	0	FLG2	150593962	0.000000	0.05858	0.009000	0.14445	0.051000	0.14879	-0.742000	0.04850	0.498000	0.27948	0.655000	0.94253	GGA		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	245	0	0	0	1	0	9	245				
RYR3	6263	broad.mit.edu	37	15	34093025	34093025	+	Silent	SNP	G	G	C			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr15:34093025G>C	ENST00000389232.4	+	68	9955	c.9885G>C	c.(9883-9885)gtG>gtC	p.V3295V	RYR3_ENST00000415757.3_Silent_p.V3295V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3295					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCGCATGGTGGCAGAAGTCT	0.433																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9883-9885)gtG>gtC		ryanodine receptor 3							115.0	109.0	111.0					15																	34093025		1862	4105	5967	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34093025G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9885G>C	15.37:g.34093025G>C						RYR3_ENST00000415757.3_Silent_p.V3295V	p.V3295V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	68	9955	+		all_lung(180;7.18e-09)	3295					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9885G>C	CCDS45210.1																																																																																				0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	36	0	0	0	1	0	7	36				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	30	0	0	0	1	0	5	30				
NR4A3	8013	broad.mit.edu	37	9	102590448	102590448	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr9:102590448C>A	ENST00000395097.2	+	3	853	c.124C>A	c.(124-126)Ctt>Att	p.L42I	NR4A3_ENST00000330847.1_Missense_Mutation_p.L53I|NR4A3_ENST00000338488.4_Missense_Mutation_p.L42I	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	42					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GACCATGGACCTTGGCAGCAC	0.572			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(157-159)Ctt>Att		nuclear receptor subfamily 4, group A, member 3							163.0	126.0	139.0					9																	102590448		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590448C>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.124C>A	9.37:g.102590448C>A	ENSP00000378531:p.Leu42Ile					NR4A3_ENST00000395097.2_Missense_Mutation_p.L42I|NR4A3_ENST00000338488.4_Missense_Mutation_p.L42I	p.L53I			Q92570	NR4A3_HUMAN			2	201	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	42					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.157C>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634898	0.47049	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.94046	-3.19;-3.05;-3.34	5.77	3.61	0.41365	.	1.864860	0.01994	N	0.045741	D	0.94364	0.8188	M	0.63428	1.95	0.42504	D	0.992941	B;B;P	0.39326	0.357;0.244;0.668	B;B;B	0.43728	0.247;0.125;0.429	T	0.83332	-0.0012	10	0.46703	T	0.11	.	13.768	0.63006	0.0:0.8555:0.0:0.1445	.	53;42;42	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	I	42;42;53	ENSP00000378531:L42I;ENSP00000340301:L42I;ENSP00000333122:L53I	ENSP00000333122:L53I	L	+	1	0	NR4A3	101630269	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.652000	0.46682	1.437000	0.47472	0.557000	0.71058	CTT		0.572	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			6	46	1	0	0.248553	1	0.248553	6	46				
GBA3	57733	broad.mit.edu	37	4	22729111	22729111	+	RNA	SNP	C	C	A			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr4:22729111C>A	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAACACTCCACATACTTGACA	0.488																																						ENST00000508166.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							134.0	141.0	139.0					4																	22729111		2203	4300	6503			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729111C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729111C>A						GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA		NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN			0	160	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.488	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			4	122	1	0	0.150653	1	0.154958	4	122				
EFNA5	1946	broad.mit.edu	37	5	107006189	107006189	+	Splice_Site	DEL	C	C	-			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr5:107006189delC	ENST00000333274.6	-	1	407		c.e1+1		EFNA5_ENST00000509503.1_Splice_Site	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5						axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TATCGGCTTACCTGGGGTTGC	0.692																																						ENST00000333274.6																			0				large_intestine(6)	6						c.e1+1		ephrin-A5							46.0	43.0	44.0					5																	107006189		2178	4270	6448	SO:0001630	splice_region_variant	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:107006189delC	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.125+1G>-	5.37:g.107006189delC						EFNA5_ENST00000509503.1_Splice_Site		NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	1	407	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)							Splice_Site	DEL	ENST00000333274.6	37		CCDS4097.1																																																																																				0.692	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	Intron	2	4						2	4	---	---	---	---
MYH16	84176	broad.mit.edu	37	7	98845201	98845201	+	RNA	DEL	C	C	-			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr7:98845201delC	ENST00000453194.1	+	0	272									myosin, heavy chain 16 pseudogene																		TGACCATCTTCCCTCCCTCCC	0.572																																						ENST00000453194.1																			0																																																			0							g.chr7:98845201delC	BK001410		7q22.1	2013-09-26	2007-12-17		ENSG00000002079	ENSG00000002079		"""Myosins / Myosin superfamily : Class II"""	31038	pseudogene	pseudogene	"""sarcomeric myosin"""	608580	"""myosin, heavy polypeptide 5"", ""myosin, heavy polypeptide 16"", ""myosin, heavy chain 16"""	MYH5		11919279, 15014174	Standard	NR_002147		Approved	MHC20, MYH16P	uc003upw.3		OTTHUMG00000154426		7.37:g.98845201delC														0	272	+									RNA	DEL	ENST00000453194.1	37																																																																																						0.572	MYH16-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335264.1	NR_002147		2	4						2	4	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434129	49434129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr12:49434129delG	ENST00000301067.7	-	31	7423	c.7424delC	c.(7423-7425)cctfs	p.P2475fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2475	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCAACTTCAGGGGGCTGGGG	0.662																																						ENST00000301067.7																			0											c.(7423-7425)ctfs		lysine (K)-specific methyltransferase 2D							36.0	41.0	39.0					12																	49434129		1833	4056	5889	SO:0001589	frameshift_variant	8085							g.chr12:49434129delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7424delC	12.37:g.49434129delG	ENSP00000301067:p.Pro2475fs						p.P2475fs	NM_003482.3	NP_003473.3					31	7423	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.7424delC	CCDS44873.1																																																																																				0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	47						7	47	---	---	---	---
