#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
EPB42	2038	broad.mit.edu	37	15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43507486G>T	ENST00000441366.2	-	3	462	c.237C>A	c.(235-237)ttC>ttA	p.F79L	EPB42_ENST00000300215.3_Missense_Mutation_p.F109L|EPB42_ENST00000540029.1_Intron	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	79					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAATTGGGAATGTGGCTT	0.542																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(325-327)ttC>ttA		erythrocyte membrane protein band 4.2							144.0	117.0	126.0					15																	43507486		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43507486G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.237C>A	15.37:g.43507486G>T	ENSP00000396616:p.Phe79Leu					EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Missense_Mutation_p.F79L	p.F109L			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	3	784	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	79					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.327C>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550027	0.45383	.	.	ENSG00000166947	ENST00000300215;ENST00000441366;ENST00000397027	D;D	0.83591	-1.74;-1.74	5.29	4.38	0.52667	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.434721	0.28453	N	0.015299	D	0.82751	0.5105	M	0.70787	2.145	0.40427	D	0.979905	B;P	0.43750	0.406;0.816	B;P	0.45998	0.226;0.5	T	0.83039	-0.0158	10	0.51188	T	0.08	-11.8947	7.9116	0.29793	0.1795:0.0:0.8205:0.0	.	109;79	P16452-2;P16452	.;EPB42_HUMAN	L	109;79;79	ENSP00000300215:F109L;ENSP00000396616:F79L	ENSP00000300215:F109L	F	-	3	2	EPB42	41294778	1.000000	0.71417	0.095000	0.20976	0.261000	0.26267	1.027000	0.30115	1.480000	0.48289	0.655000	0.94253	TTC		0.542	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		11	99	1	0	0.00136819	1	0.00145029	11	99				
PLEKHH3	79990	broad.mit.edu	37	17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:40821536T>A	ENST00000591022.1	-	12	2504	c.2117A>T	c.(2116-2118)tAt>tTt	p.Y706F	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.Y703F|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	706	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACATGGCCATAGCTGACACT	0.667																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(2107-2109)tAt>tTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							29.0	31.0	30.0					17																	40821536		2203	4299	6502	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40821536T>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2117A>T	17.37:g.40821536T>A	ENSP00000468678:p.Tyr706Phe					PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F	p.Y703F			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	12	2538	-		Breast(137;0.00116)	706			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.2108A>T	CCDS11434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.8|24.8	4.573084|4.573084	0.86542|0.86542	.|.	.|.	ENSG00000068137|ENSG00000068137	ENST00000456950|ENST00000293349;ENST00000412503	.|D	.|0.91792	.|-2.91	4.43|4.43	4.43|4.43	0.53597|0.53597	.|FERM domain (1);	.|0.000000	.|0.38058	.|N	.|0.001834	D|D	0.94427|0.94427	0.8207|0.8207	M|M	0.62723|0.62723	1.935|1.935	0.30999|0.30999	N|N	0.720491|0.720491	.|D	.|0.67145	.|0.996	.|D	.|0.70227	.|0.968	D|D	0.92608|0.92608	0.6097|0.6097	6|10	0.02654|0.40728	T|T	1|0.16	-4.7659|-4.7659	13.3337|13.3337	0.60505|0.60505	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|706	.|Q7Z736	.|PKHH3_HUMAN	L|F	357|706;529	.|ENSP00000411885:Y529F	ENSP00000394251:M357L|ENSP00000293349:Y706F	M|Y	-|-	1|2	0|0	PLEKHH3|PLEKHH3	38075062|38075062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.171000|3.171000	0.50824|0.50824	1.996000|1.996000	0.58369|0.58369	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.667	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		4	38	0	0	0	1	0	4	38				
SPHK2	56848	broad.mit.edu	37	19	49129075	49129075	+	Intron	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:49129075C>A	ENST00000245222.4	+	3	405				AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000340932.3_Intron|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000443164.1_Silent_p.S51S|SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000599029.1_5'UTR|AC022154.7_ENST00000594850.1_RNA	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2						blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCTCCTGTCCACAGCCCCTG	0.627																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(151-153)tcC>tcA		sphingosine kinase 2																																				SO:0001627	intron_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49129075C>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.40-73C>A	19.37:g.49129075C>A						SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000599033.1_Intron	p.S51S			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	1	858	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	434			Required for binding to sulfatide and phosphoinositides and for membrane localization.		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.153C>A	CCDS12727.1																																																																																				0.627	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			2	2	1	0	1	1	1	2	2				
LARS	51520	broad.mit.edu	37	5	145493811	145493811	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:145493811A>C	ENST00000394434.2	-	32	3555	c.3389T>G	c.(3388-3390)gTc>gGc	p.V1130G	RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G|LARS_ENST00000274562.9_Missense_Mutation_p.V1103G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1130					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCCCAGGACAGGAACTCG	0.408																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(3388-3390)gTc>gGc		leucyl-tRNA synthetase	L-Leucine(DB00149)						76.0	78.0	77.0					5																	145493811		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145493811A>C	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3389T>G	5.37:g.145493811A>C	ENSP00000377954:p.Val1130Gly					RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G|LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G	p.V1130G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		32	3555	-			1130					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.3389T>G	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468504	0.43839	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.64438	-0.09;-0.1;-0.09;-0.1	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.68952	2.095	0.80722	D	1	P;P;B	0.48589	0.698;0.912;0.002	B;P;B	0.47744	0.114;0.556;0.003	T	0.64495	-0.6394	10	0.22706	T	0.39	.	15.2775	0.73753	1.0:0.0:0.0:0.0	.	1103;1084;1130	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	G	1130;1084;439;1076;1103	ENSP00000377954:V1130G;ENSP00000437791:V1084G;ENSP00000426005:V1076G;ENSP00000274562:V1103G	ENSP00000274562:V1103G	V	-	2	0	LARS	145474004	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.779000	0.91792	2.102000	0.63906	0.460000	0.39030	GTC		0.408	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		27	71	0	0	0	1	0	27	71				
ZNRF4	148066	broad.mit.edu	37	19	5455562	5455562	+	Silent	SNP	G	G	A	rs147873454	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:5455562G>A	ENST00000222033.4	+	1	137	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	20						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGGCCGCGTCACTGCCTC	0.662																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(58-60)gcG>gcA		zinc and ring finger 4							41.0	48.0	45.0					19																	5455562		2124	4235	6359	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5455562G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.60G>A	19.37:g.5455562G>A							p.A20A	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	137	+			20					A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.60G>A	CCDS42475.1																																																																																				0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		6	61	0	0	0	1	0	6	61				
PRTFDC1	56952	broad.mit.edu	37	10	25226288	25226288	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:25226288C>T	ENST00000320152.6	-	3	192	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	55					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CTTGGCCAGCCGCTCAATTCT	0.368																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(163-165)cGg>cAg		phosphoribosyl transferase domain containing 1							69.0	70.0	70.0					10																	25226288		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25226288C>T	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.164G>A	10.37:g.25226288C>T	ENSP00000318602:p.Arg55Gln					PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q	p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			3	192	-			55					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.164G>A	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293702	0.80914	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378;ENST00000376376	D;D;D	0.99741	-5.82;-5.82;-6.6	5.1	1.15	0.20763	Phosphoribosyltransferase (1);	0.251980	0.38492	N	0.001677	D	0.99306	0.9757	M	0.69463	2.115	0.45056	D	0.998078	P;D	0.65815	0.769;0.995	B;P	0.57425	0.021;0.82	D	0.98519	1.0622	10	0.56958	D	0.05	.	10.2495	0.43360	0.0:0.7284:0.0:0.2716	.	55;55	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	Q	55	ENSP00000318602:R55Q;ENSP00000365558:R55Q;ENSP00000365556:R55Q	ENSP00000318602:R55Q	R	-	2	0	PRTFDC1	25266294	0.270000	0.24152	0.958000	0.39756	0.992000	0.81027	2.018000	0.40991	0.337000	0.23665	0.655000	0.94253	CGG		0.368	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		3	48	0	0	0	1	0	3	48				
SERPIND1	3053	broad.mit.edu	37	22	21133990	21133990	+	Missense_Mutation	SNP	C	C	A	rs144089172		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr22:21133990C>A	ENST00000215727.5	+	2	673	c.390C>A	c.(388-390)aaC>aaA	p.N130K	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	ACATCCTCAACGCCAAGTTCG	0.498																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(388-390)aaC>aaA		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						91.0	77.0	82.0					22																	21133990		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133990C>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.390C>A	22.37:g.21133990C>A	ENSP00000215727:p.Asn130Lys					PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K	p.N130K	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	673	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	130					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.390C>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387082	0.61956	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.88896	-2.44;-2.44	5.6	-9.55	0.00569	Serpin domain (2);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.93375	3.41	0.44129	D	0.996911	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95327	0.8426	10	0.72032	D	0.01	.	19.8105	0.96544	0.0:0.617:0.0:0.383	.	130;130	Q8IVC0;P05546	.;HEP2_HUMAN	K	130	ENSP00000215727:N130K;ENSP00000384050:N130K	ENSP00000215727:N130K	N	+	3	2	SERPIND1	19463990	0.001000	0.12720	0.196000	0.23383	0.894000	0.52154	-1.642000	0.02006	-2.101000	0.00846	-1.642000	0.00770	AAC		0.498	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		14	58	1	0	0.000308642	1	0.000333837	14	58				
SEC16B	89866	broad.mit.edu	37	1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	283					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCCGAAACTCACAGGAAC	0.532																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(847-849)aGt>aAt		SEC16 homolog B (S. cerevisiae)							67.0	73.0	71.0					1																	177930014		2120	4242	6362	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177930014C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.848G>A	1.37:g.177930014C>T	ENSP00000308339:p.Ser283Asn					RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S283N|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.S284N	p.S283N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			7	937	-			283					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.848G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703726	0.48412	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.47869	0.83;0.83	5.75	4.85	0.62838	Sec16, central conserved domain (1);	0.224040	0.40640	N	0.001056	T	0.42720	0.1215	L	0.47716	1.5	0.37659	D	0.922715	B;B;B	0.14438	0.01;0.004;0.001	B;B;B	0.16722	0.016;0.016;0.012	T	0.39563	-0.9608	10	0.32370	T	0.25	-5.3252	14.6589	0.68855	0.0:0.9297:0.0:0.0703	.	284;284;283	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	N	283;284	ENSP00000308339:S283N;ENSP00000431727:S284N	ENSP00000308339:S283N	S	-	2	0	AL359075.1	176196637	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.922000	0.48860	1.441000	0.47550	-0.137000	0.14449	AGT		0.532	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		5	40	0	0	0	1	0	5	40				
PTCHD4	442213	broad.mit.edu	37	6	47846330	47846330	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:47846330G>A	ENST00000339488.4	-	3	2283	c.2250C>T	c.(2248-2250)agC>agT	p.S750S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	750						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTTGCAAGGAGCTTTTTATAC	0.433																																						ENST00000339488.4																			0											c.(2248-2250)agC>agT		patched domain containing 4							95.0	88.0	90.0					6																	47846330		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846330G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2250C>T	6.37:g.47846330G>A							p.S750S	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2283	-			750					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.2250C>T	CCDS34473.2																																																																																				0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		9	23	0	0	0	1	0	9	23				
ATF2	1386	broad.mit.edu	37	2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	8					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CCTGGCAGAATTCACATGTAA	0.284																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(22-24)aAt>aTt		activating transcription factor 2							120.0	125.0	123.0					2																	176001149		2202	4293	6495	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:176001149T>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.23A>T	2.37:g.176001149T>A	ENSP00000264110:p.Asn8Ile					ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I	p.N8I	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		3	321	-			8					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.23A>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789120	0.31685	.	.	ENSG00000115966	ENST00000264110;ENST00000542046;ENST00000392544;ENST00000409499;ENST00000409833	T;T;D	0.90563	-1.09;-1.09;-2.69	5.57	4.34	0.51931	.	0.646519	0.13397	N	0.390914	T	0.81669	0.4871	N	0.08118	0	0.80722	D	1	B;B	0.27316	0.175;0.109	B;B	0.31191	0.06;0.125	T	0.79296	-0.1862	10	0.66056	D	0.02	-0.3821	10.1543	0.42814	0.0:0.0:0.1673:0.8326	.	8;8	Q96JT8;P15336	.;ATF2_HUMAN	I	8	ENSP00000264110:N8I;ENSP00000376327:N8I;ENSP00000386526:N8I	ENSP00000264110:N8I	N	-	2	0	ATF2	175709395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.019000	0.41001	2.099000	0.63709	0.477000	0.44152	AAT		0.284	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		11	144	0	0	0	1	0	11	144				
MS4A14	84689	broad.mit.edu	37	11	60164141	60164141	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Silent_p.P30P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	30						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTACAGACCTCATAGCTCTC	0.458																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(88-90)ccT>ccC		membrane-spanning 4-domains, subfamily A, member 14							106.0	87.0	94.0					11																	60164141		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60164141T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.90T>C	11.37:g.60164141T>C						MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531783.1_Silent_p.P30P	p.P30P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			1	367	+			30					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.90T>C	CCDS31569.1																																																																																				0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			3	32	0	0	0	1	0	3	32				
METTL23	124512	broad.mit.edu	37	17	74729679	74729679	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:74729679G>A	ENST00000341249.6	+	5	816	c.484G>A	c.(484-486)Gca>Aca	p.A162T	METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|MFSD11_ENST00000588460.1_5'Flank|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000586622.1_5'Flank|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588783.1_3'UTR	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	162						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						GTCTTTTGATGCAGACAAAGA	0.373																																						ENST00000341249.6																			0				large_intestine(2)|lung(1)	3						c.(484-486)Gca>Aca		methyltransferase like 23							178.0	178.0	178.0					17																	74729679		1882	4104	5986	SO:0001583	missense	124512					integral to membrane	methyltransferase activity	g.chr17:74729679G>A		CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.484G>A	17.37:g.74729679G>A	ENSP00000341543:p.Ala162Thr					METTL23_ENST00000588302.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T	p.A162T	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN			5	816	+			162					H9ZYJ0|K7EK32	Missense_Mutation	SNP	ENST00000341249.6	37	c.484G>A	CCDS45787.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204291	0.95033	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.23147	1.92	5.93	5.93	0.95920	.	0.105676	0.64402	D	0.000005	T	0.48205	0.1487	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09509	-1.0671	10	0.35671	T	0.21	-19.3633	20.3539	0.98825	0.0:0.0:1.0:0.0	.	162	Q86XA0	MET23_HUMAN	T	241;162	ENSP00000341543:A162T	ENSP00000316862:A241T	A	+	1	0	METTL23	72241274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.294000	0.96088	2.826000	0.97356	0.655000	0.94253	GCA		0.373	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		54	119	0	0	0	1	0	54	119				
L1CAM	3897	broad.mit.edu	37	X	153135593	153135593	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:153135593G>A	ENST00000370060.1	-	9	1098	c.909C>T	c.(907-909)ggC>ggT	p.G303G	L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G|L1CAM_ENST00000370057.3_Silent_p.G303G|L1CAM_ENST00000538883.1_Silent_p.G305G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000370055.1_Silent_p.G298G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	303	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCCTCCTCGCCCACTTTCA	0.632																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(907-909)ggC>ggT		L1 cell adhesion molecule							188.0	160.0	170.0					X																	153135593		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135593G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.909C>T	X.37:g.153135593G>A						L1CAM_ENST00000370055.1_Silent_p.G298G|L1CAM_ENST00000370057.3_Silent_p.G303G|L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000538883.1_Silent_p.G305G	p.G303G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			9	1098	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		303			Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.909C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		47	126	0	0	0	1	0	47	126				
PDCL2	132954	broad.mit.edu	37	4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:56447021T>C	ENST00000295645.4	-	3	287	c.185A>G	c.(184-186)gAt>gGt	p.D62G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	62				D -> N (in Ref. 3; AAH34431). {ECO:0000305}.						endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCTTCATCAAATTCATC	0.269																																						ENST00000295645.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(184-186)gAt>gGt		phosducin-like 2							74.0	70.0	71.0					4																	56447021		1818	4084	5902	SO:0001583	missense	132954							g.chr4:56447021T>C	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.185A>G	4.37:g.56447021T>C	ENSP00000295645:p.Asp62Gly						p.D62G	NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		3	287	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		62	D -> N (in Ref. 3; AAH34431).				A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.185A>G	CCDS47059.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253874	0.39896	.	.	ENSG00000163440	ENST00000295645	T	0.51325	0.71	5.08	5.08	0.68730	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	0.000000	0.64402	D	0.000004	T	0.52661	0.1748	M	0.81682	2.555	0.36643	D	0.876957	B	0.17465	0.022	B	0.25405	0.06	T	0.61530	-0.7044	10	0.62326	D	0.03	-17.1698	12.6614	0.56815	0.0:0.0:0.0:1.0	.	62	Q8N4E4	PDCL2_HUMAN	G	62	ENSP00000295645:D62G	ENSP00000295645:D62G	D	-	2	0	PDCL2	56141778	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.864000	0.56024	2.051000	0.60960	0.482000	0.46254	GAT		0.269	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		3	9	0	0	0	1	0	3	9				
BMPR2	659	broad.mit.edu	37	2	203383680	203383680	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:203383680G>C	ENST00000374580.4	+	6	1296	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCCTTTGATGGAACATGACAA	0.423																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(757-759)Gaa>Caa		bone morphogenetic protein receptor, type II (serine/threonine kinase)							178.0	163.0	168.0					2																	203383680		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203383680G>C	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.757G>C	2.37:g.203383680G>C	ENSP00000363708:p.Glu253Gln					BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	p.E253Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			6	1296	+			253			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.757G>C	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899653	0.72754	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93019	-3.15;-3.15	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146545	0.64402	D	0.000007	D	0.90164	0.6926	L	0.31664	0.95	0.80722	D	1	B;B	0.20988	0.05;0.01	B;B	0.18561	0.022;0.019	D	0.85864	0.1412	10	0.66056	D	0.02	.	19.7421	0.96237	0.0:0.0:1.0:0.0	.	253;253	Q13161;Q13873	.;BMPR2_HUMAN	Q	253	ENSP00000363708:E253Q;ENSP00000363702:E253Q	ENSP00000363702:E253Q	E	+	1	0	BMPR2	203091925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.666000	0.90696	0.650000	0.86243	GAA		0.423	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		39	109	0	0	0	1	0	39	109				
ADRB1	153	broad.mit.edu	37	10	115804993	115804993	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:115804993G>A	ENST00000369295.2	+	1	1188	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	368					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GCTGGGCTACGCCAACTCGGC	0.672																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(1102-1104)Gcc>Acc		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						30.0	21.0	24.0					10																	115804993		2197	4284	6481	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804993G>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1102G>A	10.37:g.115804993G>A	ENSP00000358301:p.Ala368Thr						p.A368T	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	1188	+		Colorectal(252;0.172)|Breast(234;0.188)	368					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.1102G>A	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903174	0.72754	.	.	ENSG00000043591	ENST00000369295	T	0.37915	1.17	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.156956	0.42682	U	0.000668	T	0.46328	0.1387	M	0.74258	2.255	0.33339	D	0.569604	D	0.56746	0.977	P	0.52514	0.701	T	0.60306	-0.7289	10	0.33141	T	0.24	.	9.8844	0.41253	0.0971:0.0:0.9029:0.0	.	368	P08588	ADRB1_HUMAN	T	368	ENSP00000358301:A368T	ENSP00000358301:A368T	A	+	1	0	ADRB1	115794983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.201000	0.65163	1.836000	0.53414	0.484000	0.47621	GCC		0.672	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			3	24	0	0	0	1	0	3	24				
UBR1	197131	broad.mit.edu	37	15	43262758	43262758	+	Missense_Mutation	SNP	C	C	T	rs139296068		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43262758C>T	ENST00000290650.4	-	40	4495	c.4417G>A	c.(4417-4419)Gca>Aca	p.A1473T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1473					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAGAAGATGCGGAATGAGCC	0.353																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(4417-4419)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127.0	131.0	129.0		4417	5.7	1.0	15	dbSNP_134	129	0,8598		0,0,4299	no	missense	UBR1	NM_174916.2	58	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1473/1750	43262758	1,13003	2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43262758C>T		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4417G>A	15.37:g.43262758C>T	ENSP00000290650:p.Ala1473Thr					UBR1_ENST00000382177.2_3'UTR	p.A1473T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	40	4495	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1473					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4417G>A	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279350	0.59758	2.27E-4	0.0	ENSG00000159459	ENST00000290650	T	0.50277	0.75	5.72	5.72	0.89469	.	0.175571	0.49916	D	0.000121	T	0.62804	0.2458	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.12766	T	0.61	-17.1576	19.4703	0.94961	0.0:1.0:0.0:0.0	.	1473	Q8IWV7	UBR1_HUMAN	T	1473	ENSP00000290650:A1473T	ENSP00000290650:A1473T	A	-	1	0	UBR1	41050050	1.000000	0.71417	0.998000	0.56505	0.274000	0.26718	5.094000	0.64523	2.711000	0.92665	0.655000	0.94253	GCA		0.353	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		4	93	0	0	0	1	0	4	93				
VPS13B	157680	broad.mit.edu	37	8	100866333	100866333	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:100866333C>T	ENST00000358544.2	+	56	10902	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3597					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTGCTCGTCAGCATCCACG	0.537																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10789-10791)gtC>gtT		vacuolar protein sorting 13 homolog B (yeast)							116.0	98.0	105.0					8																	100866333		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866333C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10791C>T	8.37:g.100866333C>T						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	p.V3597V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10902	+	Breast(36;3.73e-07)		3597					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10791C>T	CCDS6280.1																																																																																				0.537	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	80	0	0	0	1	0	10	80				
FLNB	2317	broad.mit.edu	37	3	58156417	58156417	+	Silent	SNP	C	C	T	rs543564224		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:58156417C>T	ENST00000295956.4	+	46	7902	c.7737C>T	c.(7735-7737)ggC>ggT	p.G2579G	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000429972.2_Silent_p.G2568G|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000358537.3_Silent_p.G2555G|FLNB_ENST00000348383.5_Silent_p.G2538G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2579	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGAGAGGGGCGATTATGTGC	0.542																																						ENST00000295956.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7735-7737)ggC>ggT		filamin B, beta							94.0	82.0	86.0					3																	58156417		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58156417C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7737C>T	3.37:g.58156417C>T						FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000348383.5_Silent_p.G2538G|FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000429972.2_Silent_p.G2568G|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Silent_p.G2555G	p.G2579G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	46	7902	+			2579			Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.7737C>T	CCDS2885.1																																																																																				0.542	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		4	58	0	0	0	1	0	4	58				
G3BP2	9908	broad.mit.edu	37	4	76573856	76573856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:76573856G>A	ENST00000359707.4	-	9	1680	c.895C>T	c.(895-897)Cga>Tga	p.R299*	G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*|G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	299					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACCAGGTCGTTCTCTAGGT	0.398																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(895-897)Cga>Tga		GTPase activating protein (SH3 domain) binding protein 2							95.0	86.0	89.0					4																	76573856		2203	4300	6503	SO:0001587	stop_gained	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76573856G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.895C>T	4.37:g.76573856G>A	ENSP00000352738:p.Arg299*					G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*|G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*	p.R299*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1680	-			299					A8K6X1|O60606|O75149|Q9UPA1	Nonsense_Mutation	SNP	ENST00000359707.4	37	c.895C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	45	11.341363	0.99549	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	.	.	.	5.96	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2478	0.43352	0.0679:0.0:0.6537:0.2784	.	.	.	.	X	299;299;266	.	ENSP00000350518:R266X	R	-	1	2	G3BP2	76792880	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	1.864000	0.39469	1.522000	0.49001	-0.140000	0.14226	CGA		0.398	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		4	34	0	0	0	1	0	4	34				
PCDHA8	56140	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1903-1905)cGt>cAt									112.0	110.0	111.0					5																	140222810		2198	4268	6466	SO:0001583	missense	0							g.chr5:140222810G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1904G>A	5.37:g.140222810G>A	ENSP00000434655:p.Arg635His					PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	p.R635H	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1904G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467287	0.43839	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.35903	U	0.002912	T	0.70745	0.3259	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.63283	0.913;0.84	T	0.65578	-0.6134	10	0.87932	D	0	.	14.3079	0.66395	0.0:0.0:1.0:0.0	.	635;635	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	635	ENSP00000434655:R635H;ENSP00000367363:R635H	ENSP00000367363:R635H	R	+	2	0	PCDHA8	140202994	0.611000	0.26992	0.405000	0.26409	0.126000	0.20510	3.932000	0.56537	1.624000	0.50355	0.313000	0.20887	CGT		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		13	76	0	0	0	1	0	13	76				
NBPF14	25832	broad.mit.edu	37	1	148004650	148004650	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:148004650T>C	ENST00000369219.1	-	22	2680	c.2664A>G	c.(2662-2664)gaA>gaG	p.E888E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	888	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGATATGCTCTTCCTCAAATG	0.433																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(2662-2664)gaA>gaG		neuroblastoma breakpoint family, member 14							108.0	169.0	149.0					1																	148004650		2042	4214	6256	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148004650T>C	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2664A>G	1.37:g.148004650T>C							p.E888E			Q5TI25	NBPFE_HUMAN			22	2680	-	all_hematologic(923;0.032)		888			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.2664A>G		.	.	.	.	.	.	.	.	.	.	t	0.357	-0.941840	0.02322	.	.	ENSG00000122497	ENST00000310701	.	.	.	0.445	-0.891	0.10573	.	.	.	.	.	T	0.06234	0.0161	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38265	-0.9669	3	.	.	.	.	.	.	.	.	.	.	.	R	894	.	.	K	-	2	0	NBPF14	146471274	0.864000	0.29904	0.000000	0.03702	0.006000	0.05464	0.691000	0.25467	-1.537000	0.01736	-1.189000	0.01698	AAG		0.433	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		89	334	0	0	0	1	0	89	334				
PDP1	54704	broad.mit.edu	37	8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:94935560C>T	ENST00000297598.4	+	2	1542	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y|PDP1_ENST00000396200.3_Missense_Mutation_p.H450Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	425					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGACTATGCATAGGCAGGA	0.498																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(1348-1350)Cat>Tat		pyruvate dehyrogenase phosphatase catalytic subunit 1							103.0	98.0	100.0					8																	94935560		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935560C>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1273C>T	8.37:g.94935560C>T	ENSP00000297598:p.His425Tyr					PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y|PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y	p.H450Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1624	+			425					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.1348C>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137410	0.56936	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	6.03	6.03	0.97812	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	L	0.44542	1.39	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.59115	0.852;0.852	T	0.00034	-1.2265	10	0.87932	D	0	-19.4901	20.5568	0.99304	0.0:1.0:0.0:0.0	.	476;425	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Y	425;425;450;425	ENSP00000297598:H425Y;ENSP00000428317:H425Y;ENSP00000379503:H450Y;ENSP00000430380:H425Y	ENSP00000297598:H425Y	H	+	1	0	PDP1	95004736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.974000	0.70465	2.861000	0.98227	0.655000	0.94253	CAT		0.498	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		7	120	0	0	0	1	0	7	120				
NRK	203447	broad.mit.edu	37	X	105153579	105153579	+	Missense_Mutation	SNP	G	G	A	rs376634125		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:105153579G>A	ENST00000243300.9	+	13	2249	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	NRK_ENST00000428173.2_Missense_Mutation_p.R650Q	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	649					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACTTGCTTCGGGCACCAAAC	0.483										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1948-1950)cGg>cAg		Nik related kinase		G	GLN/ARG	0,3217		0,0,1323,571	44.0	40.0	41.0		1946	1.6	1.0	X		41	1,6424		0,1,2318,1787	no	missense	NRK	NM_198465.2	43	0,1,3641,2358	AA,AG,GG,G		0.0156,0.0,0.0104	possibly-damaging	649/1583	105153579	1,9641	1894	4106	6000	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153579G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1946G>A	X.37:g.105153579G>A	ENSP00000434830:p.Arg649Gln	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.R649Q	p.R650Q			Q7Z2Y5	NRK_HUMAN			13	2252	+			649					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1949G>A		.	.	.	.	.	.	.	.	.	.	G	5.966	0.362119	0.11296	0.0	1.56E-4	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79247	-1.24;-1.25	4.28	1.56	0.23342	.	0.385062	0.19101	N	0.122695	T	0.61615	0.2361	L	0.32530	0.975	0.80722	D	1	B;B	0.30021	0.265;0.105	B;B	0.23852	0.049;0.006	T	0.52631	-0.8550	10	0.45353	T	0.12	.	6.1953	0.20546	0.4497:0.0:0.5503:0.0	.	317;649	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Q	649;650	ENSP00000434830:R649Q;ENSP00000438378:R650Q	ENSP00000434830:R649Q	R	+	2	0	NRK	105040235	0.998000	0.40836	0.991000	0.47740	0.025000	0.11179	0.612000	0.24283	0.197000	0.20387	-0.208000	0.12717	CGG		0.483	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		4	9	0	0	0	1	0	4	9				
VAX1	11023	broad.mit.edu	37	10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:118897516C>A	ENST00000369206.5	-	1	51	c.52G>T	c.(52-54)Gct>Tct	p.A18S	VAX1_ENST00000277905.2_Missense_Mutation_p.A18S	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	18					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		ACCCGGGCAGCCTCGGCGTCC	0.552																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(52-54)Gct>Tct		ventral anterior homeobox 1							44.0	49.0	47.0					10																	118897516		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118897516C>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.52G>T	10.37:g.118897516C>A	ENSP00000358207:p.Ala18Ser					VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	p.A18S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	1	296	-			18					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.52G>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.267099	0.23136	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.91686	-2.22;-2.89	4.25	3.08	0.35506	.	0.471174	0.20425	N	0.092594	T	0.81113	0.4755	N	0.14661	0.345	0.32661	N	0.518075	B;B	0.28291	0.043;0.206	B;B	0.31101	0.027;0.124	T	0.75709	-0.3223	10	0.05436	T	0.98	-7.1941	9.7893	0.40695	0.0:0.8104:0.0:0.1896	.	18;18	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	S	18	ENSP00000277905:A18S;ENSP00000358207:A18S	ENSP00000277905:A18S	A	-	1	0	VAX1	118887506	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.406000	0.34646	1.896000	0.54893	0.305000	0.20034	GCT		0.552	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		8	88	1	0	0.00307968	1	0.00320045	8	88				
COL24A1	255631	broad.mit.edu	37	1	86488275	86488275	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:86488275C>A	ENST00000370571.2	-	17	2515		c.e17-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTTCACCCTGGAAAGCAC	0.328																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.e17-1		collagen, type XXIV, alpha 1							62.0	62.0	62.0					1																	86488275		1867	4098	5965	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86488275C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2149-1G>T	1.37:g.86488275C>A						COL24A1_ENST00000436319.1_Splice_Site		NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	17	2515	-								C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37		CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419397	0.83559	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4498	0.87589	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86260863	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.661000	0.68025	2.634000	0.89283	0.655000	0.94253	.		0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	3	42	1	0	0.00909568	1	0.0092706	3	42				
TENM1	10178	broad.mit.edu	37	X	123839059	123839059	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:123839059G>A	ENST00000371130.3	-	5	882	c.819C>T	c.(817-819)ttC>ttT	p.F273F	TENM1_ENST00000422452.2_Silent_p.F273F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	273	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGCTGCACTGAAGATCGCAG	0.493																																						ENST00000422452.2																			0											c.(817-819)ttC>ttT		teneurin transmembrane protein 1							110.0	96.0	101.0					X																	123839059		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123839059G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.819C>T	X.37:g.123839059G>A						TENM1_ENST00000371130.3_Silent_p.F273F	p.F273F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					5	882	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.819C>T	CCDS14609.1																																																																																				0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		45	25	0	0	0	1	0	45	25				
FCER1A	2205	broad.mit.edu	37	1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:159275921C>A	ENST00000368115.1	+	5	574	c.475C>A	c.(475-477)Cac>Aac	p.H159N	FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	159	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTATGAGAACCACAACATCTC	0.488																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(475-477)Cac>Aac		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						181.0	158.0	166.0					1																	159275921		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275921C>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.475C>A	1.37:g.159275921C>A	ENSP00000357097:p.His159Asn					FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	p.H159N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			5	574	+	all_hematologic(112;0.0429)		159			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.475C>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	C	9.724	1.160329	0.21454	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12147	2.71;2.71	4.7	-3.8	0.04307	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.355120	0.04622	N	0.402118	T	0.01454	0.0047	N	0.05078	-0.115	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.43956	-0.9359	10	0.28530	T	0.3	.	3.5535	0.07855	0.3632:0.2788:0.0:0.358	.	159	P12319	FCERA_HUMAN	N	159;126	ENSP00000357097:H159N;ENSP00000357096:H126N	ENSP00000357096:H126N	H	+	1	0	FCER1A	157542545	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-1.302000	0.02746	-0.626000	0.05596	0.650000	0.86243	CAC		0.488	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		22	74	1	0	3.83957e-06	1	4.42385e-06	22	74				
COL25A1	84570	broad.mit.edu	37	4	109784483	109784483	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:109784483C>T	ENST00000399132.1	-	21	1674	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACCTTTGGTCCGGGGGCTCCA	0.453																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1144-1146)Gga>Aga		collagen, type XXV, alpha 1							54.0	55.0	55.0					4																	109784483		1823	4085	5908	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109784483C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1144G>A	4.37:g.109784483C>T	ENSP00000382083:p.Gly382Arg					COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R	p.G382R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	21	1674	-		Hepatocellular(203;0.217)	382			Collagen-like 5.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1144G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354121	0.61293	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99637	-5.77;-6.29;-5.77	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	H	0.98351	4.21	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96673	0.9498	9	.	.	.	-6.1918	19.4425	0.94827	0.0:1.0:0.0:0.0	.	382;382	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	382;384;363;378;382;312	ENSP00000382083:G382R;ENSP00000382078:G378R;ENSP00000382077:G382R	.	G	-	1	0	COL25A1	110003932	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	5.845000	0.69437	2.578000	0.87016	0.650000	0.86243	GGA		0.453	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		12	30	0	0	0	1	0	12	30				
MSN	4478	broad.mit.edu	37	X	64949442	64949442	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:64949442A>C	ENST00000360270.5	+	4	507	c.335A>C	c.(334-336)aAt>aCt	p.N112T		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	112	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGCATTCTCAATGATGATATT	0.498			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(334-336)aAt>aCt		moesin							110.0	83.0	92.0					X																	64949442		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949442A>C	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.335A>C	X.37:g.64949442A>C	ENSP00000353408:p.Asn112Thr						p.N112T	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN			4	507	+			112			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.335A>C	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306036	0.40795	.	.	ENSG00000147065	ENST00000360270	T	0.78246	-1.16	5.99	3.63	0.41609	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.125030	0.64402	D	0.000001	T	0.54615	0.1869	N	0.05608	-0.01	0.54753	D	0.999987	B	0.09022	0.002	B	0.12156	0.007	T	0.40515	-0.9559	10	0.18276	T	0.48	.	8.3864	0.32503	0.8385:0.0:0.1615:0.0	.	112	P26038	MOES_HUMAN	T	112	ENSP00000353408:N112T	ENSP00000353408:N112T	N	+	2	0	MSN	64866167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.027000	0.49697	0.867000	0.35654	0.486000	0.48141	AAT		0.498	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		17	14	0	0	0	1	0	17	14				
JPH2	57158	broad.mit.edu	37	20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr20:42747223C>A	ENST00000372980.3	-	3	2082	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	404	Ala-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGGGCGGCCTGTTCCGCT	0.607																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1210-1212)Gcc>Tcc		junctophilin 2							97.0	98.0	98.0					20																	42747223		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42747223C>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1210G>T	20.37:g.42747223C>A	ENSP00000362071:p.Ala404Ser						p.A404S	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	2082	-		Myeloproliferative disorder(115;0.0122)	404			Ala-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1210G>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895190	0.91962	.	.	ENSG00000149596	ENST00000372980	T	0.69040	-0.37	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.74467	2.265	0.80722	D	1	D	0.62365	0.991	P	0.57204	0.815	T	0.81602	-0.0858	10	0.62326	D	0.03	.	16.6039	0.84823	0.0:1.0:0.0:0.0	.	404	Q9BR39	JPH2_HUMAN	S	404	ENSP00000362071:A404S	ENSP00000362071:A404S	A	-	1	0	JPH2	42180637	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.974000	0.76122	2.198000	0.70561	0.561000	0.74099	GCC		0.607	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			9	169	1	0	6.40141e-05	1	7.21861e-05	9	169				
ZNF324	25799	broad.mit.edu	37	19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGGCAGAAACCATGTGCACAG	0.647																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(589-591)cCa>cTa		zinc finger protein 324							36.0	43.0	40.0					19																	58982449		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982449C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.590C>T	19.37:g.58982449C>T	ENSP00000444812:p.Pro197Leu					ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR	p.P197L			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1299	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	197					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.590C>T	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006909	0.35415	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.06218	3.33;3.33	3.4	-1.46	0.08800	.	1.075970	0.07388	N	0.888548	T	0.04407	0.0121	L	0.34521	1.04	0.18873	N	0.999984	P	0.43094	0.799	B	0.35859	0.212	T	0.40270	-0.9572	10	0.39692	T	0.17	.	4.9405	0.13963	0.0:0.5455:0.1583:0.2962	.	197	O75467	Z324A_HUMAN	L	197;197;197;187	ENSP00000196482:P197L;ENSP00000444812:P197L	ENSP00000196482:P197L	P	+	2	0	ZNF324	63674261	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.802000	0.27069	-0.147000	0.11254	0.455000	0.32223	CCA		0.647	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	48	0	0	0	1	0	3	48				
HSPA4L	22824	broad.mit.edu	37	4	128726278	128726278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:128726278C>T	ENST00000296464.4	+	9	1447	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	HSPA4L_ENST00000505726.1_Nonsense_Mutation_p.R320*|HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.R377*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.R346*	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	346					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGGAGCAACACGAATTCCTGC	0.328																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1036-1038)Cga>Tga		heat shock 70kDa protein 4-like							52.0	51.0	51.0					4																	128726278		2203	4299	6502	SO:0001587	stop_gained	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128726278C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1036C>T	4.37:g.128726278C>T	ENSP00000296464:p.Arg346*					HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.R377*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.R346*|HSPA4L_ENST00000505726.1_Nonsense_Mutation_p.R320*	p.R346*	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			9	1447	+			346					A2ICT2|Q4W5M5|Q8IWA2	Nonsense_Mutation	SNP	ENST00000296464.4	37	c.1036C>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	40	8.261337	0.98732	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	.	.	.	4.71	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0929	0.59176	0.3286:0.6714:0.0:0.0	.	.	.	.	X	346;377;346;305;320	.	ENSP00000296464:R346X	R	+	1	2	HSPA4L	128945728	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	3.644000	0.54381	1.271000	0.44313	0.655000	0.94253	CGA		0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		9	23	0	0	0	1	0	9	23				
PSD4	23550	broad.mit.edu	37	2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	rs146593284		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:113949974C>T	ENST00000245796.6	+	6	1841	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PSD4_ENST00000441564.3_Missense_Mutation_p.P521L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	549	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGGACACCGATGAACTCT	0.557																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1645-1647)cCg>cTg		pleckstrin and Sec7 domain containing 4			LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	184.0	191.0	189.0		1646	-3.9	0.0	2	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSD4	NM_012455.2	98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	549/1057	113949974	2,13004	2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113949974C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1646C>T	2.37:g.113949974C>T	ENSP00000245796:p.Pro549Leu					PSD4_ENST00000441564.2_Missense_Mutation_p.P521L	p.P549L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			6	1841	+			549			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1646C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	0.763	-0.768515	0.02974	2.27E-4	1.16E-4	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09723	2.95;3.0	3.93	-3.92	0.04155	.	1.186130	0.06672	N	0.766343	T	0.02649	0.0080	N	0.01576	-0.805	0.23611	N	0.997294	B;B;B	0.10296	0.0;0.003;0.002	B;B;B	0.06405	0.0;0.002;0.001	T	0.41770	-0.9490	10	0.14252	T	0.57	.	1.7799	0.03029	0.1571:0.1712:0.1466:0.5251	.	207;521;549	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	L	549;521	ENSP00000245796:P549L;ENSP00000413997:P521L	ENSP00000245796:P549L	P	+	2	0	PSD4	113666445	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.883000	0.04170	-0.775000	0.04584	-0.266000	0.10368	CCG		0.557	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		25	211	0	0	0	1	0	25	211				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	47	0	0	0	1	0	3	47				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	43	0	0	0	1	0	3	43				
PDLIM5	10611	broad.mit.edu	37	4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	12	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTGGCCCAGCTCCTTGGGG	0.403																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(34-36)Gct>Act		PDZ and LIM domain 5							66.0	65.0	65.0					4																	95376473		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95376473G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.34G>A	4.37:g.95376473G>A	ENSP00000321746:p.Ala12Thr					PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T	p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	2	170	+		Hepatocellular(203;0.114)	12			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.34G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510695	0.96386	.	.	ENSG00000163110	ENST00000359265;ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000512274;ENST00000503974;ENST00000504489;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;1.68;1.68;1.68;2.61;2.61;1.68;2.31;1.68;2.31;1.68;1.68	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.157494	0.41823	D	0.000815	T	0.67524	0.2902	M	0.62723	1.935	0.80722	D	1	D;D;D;D;P;P	0.71674	0.998;0.989;0.965;0.986;0.932;0.883	D;D;P;D;B;P	0.80764	0.994;0.927;0.86;0.917;0.303;0.755	T	0.69379	-0.5161	10	0.72032	D	0.01	.	18.1706	0.89744	0.0:0.0:1.0:0.0	.	12;12;12;12;12;12	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	T	12	ENSP00000352210:A12T;ENSP00000398469:A12T;ENSP00000369527:A12T;ENSP00000322021:A12T;ENSP00000401579:A12T;ENSP00000439795:A12T;ENSP00000321746:A12T;ENSP00000426379:A12T;ENSP00000424297:A12T;ENSP00000423009:A12T;ENSP00000426804:A12T;ENSP00000424360:A12T	ENSP00000321746:A12T	A	+	1	0	PDLIM5	95595496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.876000	0.63079	2.578000	0.87016	0.591000	0.81541	GCT		0.403	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			4	35	0	0	0	1	0	4	35				
URB2	9816	broad.mit.edu	37	1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577																																						ENST00000258243.2																			1	Substitution - Missense(1)	p.S499F(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1495-1497)tCt>tTt		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							113.0	118.0	116.0					1																	229771856		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771856C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1496C>T	1.37:g.229771856C>T	ENSP00000258243:p.Ser499Phe						p.S499F	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	1632	+			499					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.1496C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	4.911	0.169357	0.09339	.	.	ENSG00000135763	ENST00000258243	T	0.33216	1.42	5.35	0.996	0.19844	.	1.134710	0.06163	N	0.676348	T	0.23094	0.0558	L	0.34521	1.04	0.09310	N	1	B	0.33448	0.412	B	0.27887	0.084	T	0.24261	-1.0165	9	.	.	.	0.0631	11.0794	0.48051	0.0671:0.3671:0.5657:0.0	.	499	Q14146	URB2_HUMAN	F	499	ENSP00000258243:S499F	.	S	+	2	0	URB2	227838479	0.357000	0.24938	0.001000	0.08648	0.004000	0.04260	1.775000	0.38584	0.327000	0.23409	-0.153000	0.13522	TCT		0.577	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		41	117	0	0	0	1	0	41	117				
JMJD1C	221037	broad.mit.edu	37	10	64967187	64967187	+	Silent	SNP	T	T	G			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1414					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTACTTCTGAACCACCCC	0.408																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4240-4242)tcA>tcC		jumonji domain containing 1C							124.0	123.0	123.0					10																	64967187		1932	4128	6060	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967187T>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4242A>C	10.37:g.64967187T>G						JMJD1C_ENST00000399251.1_Silent_p.S1195S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000542921.1_Silent_p.S1232S	p.S1414S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4460	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1414					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.4242A>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	3.775	-0.046928	0.07407	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.72	3.25	0.37280	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-5.3966	7.3828	0.26866	0.0:0.0688:0.2757:0.6555	.	.	.	.	P	100	.	.	Q	-	2	0	JMJD1C	64637193	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	0.387000	0.20718	0.963000	0.38082	0.482000	0.46254	CAG		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		17	148	0	0	0	1	0	17	148				
UBE2I	7329	broad.mit.edu	37	16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	123					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTAAATGAACCAAATATCCAA	0.532																																						ENST00000355803.4																			0				breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(367-369)cCa>cTa		ubiquitin-conjugating enzyme E2I							104.0	100.0	102.0					16																	1370473		2199	4300	6499	SO:0001583	missense	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1370473C>T	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.368C>T	16.37:g.1370473C>T	ENSP00000348056:p.Pro123Leu					UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L	p.P123L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN			6	919	+		Hepatocellular(780;0.00369)	123					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	ENST00000355803.4	37	c.368C>T	CCDS10433.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294575	0.81025	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.13	4.18	0.49190	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85305	0.1075	10	0.87932	D	0	.	11.3829	0.49768	0.0:0.9123:0.0:0.0877	.	123;123	B0QYN7;P63279	.;UBC9_HUMAN	L	123	ENSP00000324897:P123L;ENSP00000348056:P123L;ENSP00000380649:P123L;ENSP00000380650:P123L;ENSP00000384568:P123L;ENSP00000385009:P123L;ENSP00000384361:P123L	ENSP00000324897:P123L	P	+	2	0	UBE2I	1310474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	1.409000	0.46915	0.561000	0.74099	CCA		0.532	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		6	93	0	0	0	1	0	6	93				
ATP2B2	491	broad.mit.edu	37	3	10417120	10417120	+	Silent	SNP	C	C	T	rs556206364		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:10417120C>T	ENST00000352432.4	-	10	1479	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S	ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000343816.4_Silent_p.S456S|ATP2B2_ENST00000360273.2_Silent_p.S470S|ATP2B2_ENST00000397077.1_Silent_p.S425S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	470					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						TCACCTTCACCGAATAGGCCA	0.622																																					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.(1273-1275)tcG>tcA		ATPase, Ca++ transporting, plasma membrane 2							48.0	53.0	51.0					3																	10417120		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:10417120C>T	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.1410G>A	3.37:g.10417120C>T						ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000360273.2_Silent_p.S470S|ATP2B2_ENST00000352432.4_Silent_p.S470S|ATP2B2_ENST00000343816.4_Silent_p.S456S	p.S425S			Q01814	AT2B2_HUMAN			10	1850	-			470					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1275G>A	CCDS33701.1																																																																																				0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		8	48	0	0	0	1	0	8	48				
CACNA1D	776	broad.mit.edu	37	3	53531240	53531240	+	Silent	SNP	G	G	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:53531240G>C	ENST00000350061.5	+	2	640	c.129G>C	c.(127-129)ccG>ccC	p.P43P	CACNA1D_ENST00000288139.4_Silent_p.P43P|CACNA1D_ENST00000422281.2_Silent_p.P43P	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	43					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCTCAGCCGAATAGCTCCA	0.488																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(127-129)ccG>ccC		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						72.0	75.0	74.0					3																	53531240		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53531240G>C	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.129G>C	3.37:g.53531240G>C						CACNA1D_ENST00000422281.2_Silent_p.P43P|CACNA1D_ENST00000350061.5_Silent_p.P43P	p.P43P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	2	247	+			43					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.129G>C	CCDS46848.1																																																																																				0.488	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		6	72	0	0	0	1	0	6	72				
FAM120B	84498	broad.mit.edu	37	6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	483					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAATCCAGGCAAGAAGTTTT	0.453																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1447-1449)Caa>Taa		family with sequence similarity 120B							111.0	117.0	115.0					6																	170627925		2203	4300	6503	SO:0001587	stop_gained	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627925C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1447C>T	6.37:g.170627925C>T	ENSP00000417970:p.Gln483*					FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron	p.Q483*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1555	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	483					B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	ENST00000476287.1	37	c.1447C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	-	19.38	3.817043	0.70912	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	0.668	0.668	0.17912	.	1.671780	0.03925	U	0.284196	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	.	.	.	.	.	.	.	X	495;506;483	.	ENSP00000436640:Q483X	Q	+	1	0	FAM120B	170469850	0.011000	0.17503	0.018000	0.16275	0.046000	0.14306	1.261000	0.32980	0.623000	0.30267	0.205000	0.17691	CAA		0.453	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	200	0	0	0	1	0	9	200				
DDN	23109	broad.mit.edu	37	12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	376	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGTTCTCCTTCTTTCCCTTCC	0.632																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1126-1128)Gaa>Aaa		dendrin							49.0	46.0	47.0					12																	49391533		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391533C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1126G>A	12.37:g.49391533C>T	ENSP00000390590:p.Glu376Lys						p.E376K	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1147	-			376			Interaction with ACTN1.			Missense_Mutation	SNP	ENST00000421952.2	37	c.1126G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117337	0.37339	.	.	ENSG00000181418	ENST00000421952	T	0.47869	0.83	3.48	2.59	0.31030	.	0.000000	0.47093	D	0.000243	T	0.30759	0.0775	L	0.27053	0.805	0.35272	D	0.780551	B	0.12013	0.005	B	0.12156	0.007	T	0.29088	-1.0023	10	0.46703	T	0.11	-11.5308	7.0527	0.25081	0.0:0.875:0.0:0.125	.	376	O94850	DEND_HUMAN	K	376	ENSP00000390590:E376K	ENSP00000390590:E376K	E	-	1	0	DDN	47677800	0.953000	0.32496	0.983000	0.44433	0.903000	0.53119	1.097000	0.30988	1.076000	0.40961	-0.254000	0.11334	GAA		0.632	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			15	43	0	0	0	1	0	15	43				
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Intron	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:111780950G>T	ENST00000533475.1	-	3	774				CRYAB_ENST00000227251.3_Intron|HSPB2_ENST00000537382.1_5'Flank|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000533971.1_Missense_Mutation_p.P142Q|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533280.1_Intron|HSPB2_ENST00000304298.3_5'Flank|CRYAB_ENST00000526180.1_Intron|HSPB2-C11orf52_ENST00000534100.1_5'Flank	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B						aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418																																						ENST00000533971.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8						c.(424-426)cCa>cAa		crystallin, alpha B																																				SO:0001627	intron_variant	1410				anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	g.chr11:111780950G>T		CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"""Heat shock proteins / HSPB"""	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.324+100C>A	11.37:g.111780950G>T						CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000531198.1_Intron	p.P142Q			P02511	CRYAB_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	516	-		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Missense_Mutation	SNP	ENST00000533475.1	37	c.425C>A	CCDS8351.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672679	0.29693	.	.	ENSG00000109846	ENST00000533971	D	0.92199	-2.99	4.44	-0.0735	0.13735	.	.	.	.	.	D	0.84056	0.5388	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.72014	-0.4418	8	0.72032	D	0.01	.	0.2439	0.00196	0.3354:0.2275:0.239:0.1981	.	142	E9PRA8	.	Q	142	ENSP00000434269:P142Q	ENSP00000434269:P142Q	P	-	2	0	CRYAB	111286160	0.039000	0.19947	0.000000	0.03702	0.054000	0.15201	0.853000	0.27777	-0.004000	0.14419	-0.136000	0.14681	CCA		0.418	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391658.1			6	12	1	0	0.000157383	1	0.000173777	6	12				
EPB42	2038	broad.mit.edu	37	15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr15:43507486G>T	ENST00000441366.2	-	3	462	c.237C>A	c.(235-237)ttC>ttA	p.F79L	EPB42_ENST00000300215.3_Missense_Mutation_p.F109L|EPB42_ENST00000540029.1_Intron	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	79					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAATTGGGAATGTGGCTT	0.542																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(325-327)ttC>ttA		erythrocyte membrane protein band 4.2							144.0	117.0	126.0					15																	43507486		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43507486G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.237C>A	15.37:g.43507486G>T	ENSP00000396616:p.Phe79Leu					EPB42_ENST00000441366.2_Missense_Mutation_p.F79L|EPB42_ENST00000540029.1_Intron	p.F109L			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	3	784	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	79					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.327C>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550027	0.45383	.	.	ENSG00000166947	ENST00000300215;ENST00000441366;ENST00000397027	D;D	0.83591	-1.74;-1.74	5.29	4.38	0.52667	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.434721	0.28453	N	0.015299	D	0.82751	0.5105	M	0.70787	2.145	0.40427	D	0.979905	B;P	0.43750	0.406;0.816	B;P	0.45998	0.226;0.5	T	0.83039	-0.0158	10	0.51188	T	0.08	-11.8947	7.9116	0.29793	0.1795:0.0:0.8205:0.0	.	109;79	P16452-2;P16452	.;EPB42_HUMAN	L	109;79;79	ENSP00000300215:F109L;ENSP00000396616:F79L	ENSP00000300215:F109L	F	-	3	2	EPB42	41294778	1.000000	0.71417	0.095000	0.20976	0.261000	0.26267	1.027000	0.30115	1.480000	0.48289	0.655000	0.94253	TTC		0.542	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		11	99	1	0	0.00136819	1	0.00143494	11	99				
PLEKHH3	79990	broad.mit.edu	37	17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr17:40821536T>A	ENST00000591022.1	-	12	2504	c.2117A>T	c.(2116-2118)tAt>tTt	p.Y706F	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.Y703F|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	706	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACATGGCCATAGCTGACACT	0.667																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(2107-2109)tAt>tTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							29.0	31.0	30.0					17																	40821536		2203	4299	6502	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40821536T>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2117A>T	17.37:g.40821536T>A	ENSP00000468678:p.Tyr706Phe					PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F	p.Y703F			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	12	2538	-		Breast(137;0.00116)	706			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.2108A>T	CCDS11434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.8|24.8	4.573084|4.573084	0.86542|0.86542	.|.	.|.	ENSG00000068137|ENSG00000068137	ENST00000456950|ENST00000293349;ENST00000412503	.|D	.|0.91792	.|-2.91	4.43|4.43	4.43|4.43	0.53597|0.53597	.|FERM domain (1);	.|0.000000	.|0.38058	.|N	.|0.001834	D|D	0.94427|0.94427	0.8207|0.8207	M|M	0.62723|0.62723	1.935|1.935	0.30999|0.30999	N|N	0.720491|0.720491	.|D	.|0.67145	.|0.996	.|D	.|0.70227	.|0.968	D|D	0.92608|0.92608	0.6097|0.6097	6|10	0.02654|0.40728	T|T	1|0.16	-4.7659|-4.7659	13.3337|13.3337	0.60505|0.60505	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|706	.|Q7Z736	.|PKHH3_HUMAN	L|F	357|706;529	.|ENSP00000411885:Y529F	ENSP00000394251:M357L|ENSP00000293349:Y706F	M|Y	-|-	1|2	0|0	PLEKHH3|PLEKHH3	38075062|38075062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.171000|3.171000	0.50824|0.50824	1.996000|1.996000	0.58369|0.58369	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.667	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		4	38	0	0	0	1	0	4	38				
ZNRF4	148066	broad.mit.edu	37	19	5455562	5455562	+	Silent	SNP	G	G	A	rs147873454	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr19:5455562G>A	ENST00000222033.4	+	1	137	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	20						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGGCCGCGTCACTGCCTC	0.662																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(58-60)gcG>gcA		zinc and ring finger 4							41.0	48.0	45.0					19																	5455562		2124	4235	6359	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5455562G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.60G>A	19.37:g.5455562G>A							p.A20A	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	137	+			20					A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.60G>A	CCDS42475.1																																																																																				0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		6	61	0	0	0	1	0	6	61				
PRTFDC1	56952	broad.mit.edu	37	10	25226288	25226288	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr10:25226288C>T	ENST00000320152.6	-	3	192	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	55					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CTTGGCCAGCCGCTCAATTCT	0.368																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(163-165)cGg>cAg		phosphoribosyl transferase domain containing 1							69.0	70.0	70.0					10																	25226288		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25226288C>T	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.164G>A	10.37:g.25226288C>T	ENSP00000318602:p.Arg55Gln					PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q	p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			3	192	-			55					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.164G>A	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293702	0.80914	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378;ENST00000376376	D;D;D	0.99741	-5.82;-5.82;-6.6	5.1	1.15	0.20763	Phosphoribosyltransferase (1);	0.251980	0.38492	N	0.001677	D	0.99306	0.9757	M	0.69463	2.115	0.45056	D	0.998078	P;D	0.65815	0.769;0.995	B;P	0.57425	0.021;0.82	D	0.98519	1.0622	10	0.56958	D	0.05	.	10.2495	0.43360	0.0:0.7284:0.0:0.2716	.	55;55	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	Q	55	ENSP00000318602:R55Q;ENSP00000365558:R55Q;ENSP00000365556:R55Q	ENSP00000318602:R55Q	R	-	2	0	PRTFDC1	25266294	0.270000	0.24152	0.958000	0.39756	0.992000	0.81027	2.018000	0.40991	0.337000	0.23665	0.655000	0.94253	CGG		0.368	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		3	48	0	0	0	1	0	3	48				
SERPIND1	3053	broad.mit.edu	37	22	21133990	21133990	+	Missense_Mutation	SNP	C	C	A	rs144089172		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr22:21133990C>A	ENST00000215727.5	+	2	673	c.390C>A	c.(388-390)aaC>aaA	p.N130K	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	ACATCCTCAACGCCAAGTTCG	0.498																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(388-390)aaC>aaA		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						91.0	77.0	82.0					22																	21133990		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133990C>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.390C>A	22.37:g.21133990C>A	ENSP00000215727:p.Asn130Lys					PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K|PI4KA_ENST00000466162.1_Intron	p.N130K	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	673	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	130					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.390C>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387082	0.61956	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.88896	-2.44;-2.44	5.6	-9.55	0.00569	Serpin domain (2);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.93375	3.41	0.44129	D	0.996911	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95327	0.8426	10	0.72032	D	0.01	.	19.8105	0.96544	0.0:0.617:0.0:0.383	.	130;130	Q8IVC0;P05546	.;HEP2_HUMAN	K	130	ENSP00000215727:N130K;ENSP00000384050:N130K	ENSP00000215727:N130K	N	+	3	2	SERPIND1	19463990	0.001000	0.12720	0.196000	0.23383	0.894000	0.52154	-1.642000	0.02006	-2.101000	0.00846	-1.642000	0.00770	AAC		0.498	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		14	58	1	0	0.000308642	1	0.00033179	14	58				
SEC16B	89866	broad.mit.edu	37	1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	283					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCCGAAACTCACAGGAAC	0.532																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(847-849)aGt>aAt		SEC16 homolog B (S. cerevisiae)							67.0	73.0	71.0					1																	177930014		2120	4242	6362	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177930014C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.848G>A	1.37:g.177930014C>T	ENSP00000308339:p.Ser283Asn					SEC16B_ENST00000464631.1_Missense_Mutation_p.S284N|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S283N|RP4-798P15.3_ENST00000354921.2_5'UTR	p.S283N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			7	937	-			283					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.848G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703726	0.48412	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.47869	0.83;0.83	5.75	4.85	0.62838	Sec16, central conserved domain (1);	0.224040	0.40640	N	0.001056	T	0.42720	0.1215	L	0.47716	1.5	0.37659	D	0.922715	B;B;B	0.14438	0.01;0.004;0.001	B;B;B	0.16722	0.016;0.016;0.012	T	0.39563	-0.9608	10	0.32370	T	0.25	-5.3252	14.6589	0.68855	0.0:0.9297:0.0:0.0703	.	284;284;283	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	N	283;284	ENSP00000308339:S283N;ENSP00000431727:S284N	ENSP00000308339:S283N	S	-	2	0	AL359075.1	176196637	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.922000	0.48860	1.441000	0.47550	-0.137000	0.14449	AGT		0.532	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		5	40	0	0	0	1	0	5	40				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	13	0	0	0	1	0	3	13				
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	lincRNA	SNP	C	C	T	rs6583275	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886									long intergenic non-protein coding RNA 969																		CTTTGAGGTGCACTGGAGGAA	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		35599	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410689C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410689C>T														0	1886	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	20	0	0	0	1	0	4	20				
PTCHD4	442213	broad.mit.edu	37	6	47846330	47846330	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr6:47846330G>A	ENST00000339488.4	-	3	2283	c.2250C>T	c.(2248-2250)agC>agT	p.S750S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	750						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTTGCAAGGAGCTTTTTATAC	0.433																																						ENST00000339488.4																			0											c.(2248-2250)agC>agT		patched domain containing 4							95.0	88.0	90.0					6																	47846330		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846330G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2250C>T	6.37:g.47846330G>A							p.S750S	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2283	-			750					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.2250C>T	CCDS34473.2																																																																																				0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		9	23	0	0	0	1	0	9	23				
ATF2	1386	broad.mit.edu	37	2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	8					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CCTGGCAGAATTCACATGTAA	0.284																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(22-24)aAt>aTt		activating transcription factor 2							120.0	125.0	123.0					2																	176001149		2202	4293	6495	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:176001149T>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.23A>T	2.37:g.176001149T>A	ENSP00000264110:p.Asn8Ile					ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I	p.N8I	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		3	321	-			8					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.23A>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789120	0.31685	.	.	ENSG00000115966	ENST00000264110;ENST00000542046;ENST00000392544;ENST00000409499;ENST00000409833	T;T;D	0.90563	-1.09;-1.09;-2.69	5.57	4.34	0.51931	.	0.646519	0.13397	N	0.390914	T	0.81669	0.4871	N	0.08118	0	0.80722	D	1	B;B	0.27316	0.175;0.109	B;B	0.31191	0.06;0.125	T	0.79296	-0.1862	10	0.66056	D	0.02	-0.3821	10.1543	0.42814	0.0:0.0:0.1673:0.8326	.	8;8	Q96JT8;P15336	.;ATF2_HUMAN	I	8	ENSP00000264110:N8I;ENSP00000376327:N8I;ENSP00000386526:N8I	ENSP00000264110:N8I	N	-	2	0	ATF2	175709395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.019000	0.41001	2.099000	0.63709	0.477000	0.44152	AAT		0.284	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		11	144	0	0	0	1	0	11	144				
ZNF324	25799	broad.mit.edu	37	19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGGCAGAAACCATGTGCACAG	0.647																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(589-591)cCa>cTa		zinc finger protein 324							36.0	43.0	40.0					19																	58982449		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982449C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.590C>T	19.37:g.58982449C>T	ENSP00000444812:p.Pro197Leu					ZNF324_ENST00000535298.1_5'UTR|ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L	p.P197L			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1299	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	197					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.590C>T	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006909	0.35415	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.06218	3.33;3.33	3.4	-1.46	0.08800	.	1.075970	0.07388	N	0.888548	T	0.04407	0.0121	L	0.34521	1.04	0.18873	N	0.999984	P	0.43094	0.799	B	0.35859	0.212	T	0.40270	-0.9572	10	0.39692	T	0.17	.	4.9405	0.13963	0.0:0.5455:0.1583:0.2962	.	197	O75467	Z324A_HUMAN	L	197;197;197;187	ENSP00000196482:P197L;ENSP00000444812:P197L	ENSP00000196482:P197L	P	+	2	0	ZNF324	63674261	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.802000	0.27069	-0.147000	0.11254	0.455000	0.32223	CCA		0.647	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	48	0	0	0	1	0	3	48				
MS4A14	84689	broad.mit.edu	37	11	60164141	60164141	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Silent_p.P30P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	30						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTACAGACCTCATAGCTCTC	0.458																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(88-90)ccT>ccC		membrane-spanning 4-domains, subfamily A, member 14							106.0	87.0	94.0					11																	60164141		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60164141T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.90T>C	11.37:g.60164141T>C						MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR	p.P30P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			1	367	+			30					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.90T>C	CCDS31569.1																																																																																				0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			3	32	0	0	0	1	0	3	32				
L1CAM	3897	broad.mit.edu	37	X	153135593	153135593	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chrX:153135593G>A	ENST00000370060.1	-	9	1098	c.909C>T	c.(907-909)ggC>ggT	p.G303G	L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G|L1CAM_ENST00000370057.3_Silent_p.G303G|L1CAM_ENST00000538883.1_Silent_p.G305G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000370055.1_Silent_p.G298G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	303	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCCTCCTCGCCCACTTTCA	0.632																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(907-909)ggC>ggT		L1 cell adhesion molecule							188.0	160.0	170.0					X																	153135593		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135593G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.909C>T	X.37:g.153135593G>A						L1CAM_ENST00000370055.1_Silent_p.G298G|L1CAM_ENST00000370057.3_Silent_p.G303G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000538883.1_Silent_p.G305G|L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G	p.G303G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			9	1098	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		303			Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.909C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		47	126	0	0	0	1	0	47	126				
PDCL2	132954	broad.mit.edu	37	4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr4:56447021T>C	ENST00000295645.4	-	3	287	c.185A>G	c.(184-186)gAt>gGt	p.D62G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	62				D -> N (in Ref. 3; AAH34431). {ECO:0000305}.						endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCTTCATCAAATTCATC	0.269																																						ENST00000295645.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(184-186)gAt>gGt		phosducin-like 2							74.0	70.0	71.0					4																	56447021		1818	4084	5902	SO:0001583	missense	132954							g.chr4:56447021T>C	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.185A>G	4.37:g.56447021T>C	ENSP00000295645:p.Asp62Gly						p.D62G	NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		3	287	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		62	D -> N (in Ref. 3; AAH34431).				A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.185A>G	CCDS47059.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253874	0.39896	.	.	ENSG00000163440	ENST00000295645	T	0.51325	0.71	5.08	5.08	0.68730	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	0.000000	0.64402	D	0.000004	T	0.52661	0.1748	M	0.81682	2.555	0.36643	D	0.876957	B	0.17465	0.022	B	0.25405	0.06	T	0.61530	-0.7044	10	0.62326	D	0.03	-17.1698	12.6614	0.56815	0.0:0.0:0.0:1.0	.	62	Q8N4E4	PDCL2_HUMAN	G	62	ENSP00000295645:D62G	ENSP00000295645:D62G	D	-	2	0	PDCL2	56141778	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.864000	0.56024	2.051000	0.60960	0.482000	0.46254	GAT		0.269	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		3	9	0	0	0	1	0	3	9				
ADRB1	153	broad.mit.edu	37	10	115804993	115804993	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr10:115804993G>A	ENST00000369295.2	+	1	1188	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	368					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GCTGGGCTACGCCAACTCGGC	0.672																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(1102-1104)Gcc>Acc		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						30.0	21.0	24.0					10																	115804993		2197	4284	6481	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804993G>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1102G>A	10.37:g.115804993G>A	ENSP00000358301:p.Ala368Thr						p.A368T	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	1188	+		Colorectal(252;0.172)|Breast(234;0.188)	368					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.1102G>A	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903174	0.72754	.	.	ENSG00000043591	ENST00000369295	T	0.37915	1.17	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.156956	0.42682	U	0.000668	T	0.46328	0.1387	M	0.74258	2.255	0.33339	D	0.569604	D	0.56746	0.977	P	0.52514	0.701	T	0.60306	-0.7289	10	0.33141	T	0.24	.	9.8844	0.41253	0.0971:0.0:0.9029:0.0	.	368	P08588	ADRB1_HUMAN	T	368	ENSP00000358301:A368T	ENSP00000358301:A368T	A	+	1	0	ADRB1	115794983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.201000	0.65163	1.836000	0.53414	0.484000	0.47621	GCC		0.672	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			3	24	0	0	0	1	0	3	24				
UBR1	197131	broad.mit.edu	37	15	43262758	43262758	+	Missense_Mutation	SNP	C	C	T	rs139296068		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr15:43262758C>T	ENST00000290650.4	-	40	4495	c.4417G>A	c.(4417-4419)Gca>Aca	p.A1473T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1473					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAGAAGATGCGGAATGAGCC	0.353																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(4417-4419)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127.0	131.0	129.0		4417	5.7	1.0	15	dbSNP_134	129	0,8598		0,0,4299	no	missense	UBR1	NM_174916.2	58	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1473/1750	43262758	1,13003	2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43262758C>T		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4417G>A	15.37:g.43262758C>T	ENSP00000290650:p.Ala1473Thr					UBR1_ENST00000382177.2_3'UTR	p.A1473T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	40	4495	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1473					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4417G>A	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279350	0.59758	2.27E-4	0.0	ENSG00000159459	ENST00000290650	T	0.50277	0.75	5.72	5.72	0.89469	.	0.175571	0.49916	D	0.000121	T	0.62804	0.2458	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.12766	T	0.61	-17.1576	19.4703	0.94961	0.0:1.0:0.0:0.0	.	1473	Q8IWV7	UBR1_HUMAN	T	1473	ENSP00000290650:A1473T	ENSP00000290650:A1473T	A	-	1	0	UBR1	41050050	1.000000	0.71417	0.998000	0.56505	0.274000	0.26718	5.094000	0.64523	2.711000	0.92665	0.655000	0.94253	GCA		0.353	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		4	93	0	0	0	1	0	4	93				
VPS13B	157680	broad.mit.edu	37	8	100866333	100866333	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr8:100866333C>T	ENST00000358544.2	+	56	10902	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3597					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTGCTCGTCAGCATCCACG	0.537																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10789-10791)gtC>gtT		vacuolar protein sorting 13 homolog B (yeast)							116.0	98.0	105.0					8																	100866333		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866333C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10791C>T	8.37:g.100866333C>T						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	p.V3597V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10902	+	Breast(36;3.73e-07)		3597					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10791C>T	CCDS6280.1																																																																																				0.537	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	80	0	0	0	1	0	10	80				
FLNB	2317	broad.mit.edu	37	3	58156417	58156417	+	Silent	SNP	C	C	T	rs543564224		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:58156417C>T	ENST00000295956.4	+	46	7902	c.7737C>T	c.(7735-7737)ggC>ggT	p.G2579G	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000429972.2_Silent_p.G2568G|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000358537.3_Silent_p.G2555G|FLNB_ENST00000348383.5_Silent_p.G2538G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2579	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGAGAGGGGCGATTATGTGC	0.542																																						ENST00000295956.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7735-7737)ggC>ggT		filamin B, beta							94.0	82.0	86.0					3																	58156417		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58156417C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7737C>T	3.37:g.58156417C>T						FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000358537.3_Silent_p.G2555G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.G2538G|FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000429972.2_Silent_p.G2568G	p.G2579G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	46	7902	+			2579			Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.7737C>T	CCDS2885.1																																																																																				0.542	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		4	58	0	0	0	1	0	4	58				
G3BP2	9908	broad.mit.edu	37	4	76573856	76573856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr4:76573856G>A	ENST00000359707.4	-	9	1680	c.895C>T	c.(895-897)Cga>Tga	p.R299*	G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*|G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	299					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACCAGGTCGTTCTCTAGGT	0.398																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(895-897)Cga>Tga		GTPase activating protein (SH3 domain) binding protein 2							95.0	86.0	89.0					4																	76573856		2203	4300	6503	SO:0001587	stop_gained	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76573856G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.895C>T	4.37:g.76573856G>A	ENSP00000352738:p.Arg299*					G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*|G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*	p.R299*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1680	-			299					A8K6X1|O60606|O75149|Q9UPA1	Nonsense_Mutation	SNP	ENST00000359707.4	37	c.895C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	45	11.341363	0.99549	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	.	.	.	5.96	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2478	0.43352	0.0679:0.0:0.6537:0.2784	.	.	.	.	X	299;299;266	.	ENSP00000350518:R266X	R	-	1	2	G3BP2	76792880	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	1.864000	0.39469	1.522000	0.49001	-0.140000	0.14226	CGA		0.398	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		4	34	0	0	0	1	0	4	34				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	20	0	0	0	1	0	4	20				
PCDHA8	56140	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1903-1905)cGt>cAt									112.0	110.0	111.0					5																	140222810		2198	4268	6466	SO:0001583	missense	0							g.chr5:140222810G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1904G>A	5.37:g.140222810G>A	ENSP00000434655:p.Arg635His					PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.R635H	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1904G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467287	0.43839	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.35903	U	0.002912	T	0.70745	0.3259	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.63283	0.913;0.84	T	0.65578	-0.6134	10	0.87932	D	0	.	14.3079	0.66395	0.0:0.0:1.0:0.0	.	635;635	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	635	ENSP00000434655:R635H;ENSP00000367363:R635H	ENSP00000367363:R635H	R	+	2	0	PCDHA8	140202994	0.611000	0.26992	0.405000	0.26409	0.126000	0.20510	3.932000	0.56537	1.624000	0.50355	0.313000	0.20887	CGT		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		13	76	0	0	0	1	0	13	76				
PDP1	54704	broad.mit.edu	37	8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr8:94935560C>T	ENST00000297598.4	+	2	1542	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y|PDP1_ENST00000396200.3_Missense_Mutation_p.H450Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	425					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGACTATGCATAGGCAGGA	0.498																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(1348-1350)Cat>Tat		pyruvate dehyrogenase phosphatase catalytic subunit 1							103.0	98.0	100.0					8																	94935560		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935560C>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1273C>T	8.37:g.94935560C>T	ENSP00000297598:p.His425Tyr					PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y|PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y	p.H450Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1624	+			425					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.1348C>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137410	0.56936	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	6.03	6.03	0.97812	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	L	0.44542	1.39	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.59115	0.852;0.852	T	0.00034	-1.2265	10	0.87932	D	0	-19.4901	20.5568	0.99304	0.0:1.0:0.0:0.0	.	476;425	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Y	425;425;450;425	ENSP00000297598:H425Y;ENSP00000428317:H425Y;ENSP00000379503:H450Y;ENSP00000430380:H425Y	ENSP00000297598:H425Y	H	+	1	0	PDP1	95004736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.974000	0.70465	2.861000	0.98227	0.655000	0.94253	CAT		0.498	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		7	120	0	0	0	1	0	7	120				
VAX1	11023	broad.mit.edu	37	10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr10:118897516C>A	ENST00000369206.5	-	1	51	c.52G>T	c.(52-54)Gct>Tct	p.A18S	VAX1_ENST00000277905.2_Missense_Mutation_p.A18S	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	18					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		ACCCGGGCAGCCTCGGCGTCC	0.552																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(52-54)Gct>Tct		ventral anterior homeobox 1							44.0	49.0	47.0					10																	118897516		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118897516C>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.52G>T	10.37:g.118897516C>A	ENSP00000358207:p.Ala18Ser					VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	p.A18S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	1	296	-			18					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.52G>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.267099	0.23136	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.91686	-2.22;-2.89	4.25	3.08	0.35506	.	0.471174	0.20425	N	0.092594	T	0.81113	0.4755	N	0.14661	0.345	0.32661	N	0.518075	B;B	0.28291	0.043;0.206	B;B	0.31101	0.027;0.124	T	0.75709	-0.3223	10	0.05436	T	0.98	-7.1941	9.7893	0.40695	0.0:0.8104:0.0:0.1896	.	18;18	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	S	18	ENSP00000277905:A18S;ENSP00000358207:A18S	ENSP00000277905:A18S	A	-	1	0	VAX1	118887506	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.406000	0.34646	1.896000	0.54893	0.305000	0.20034	GCT		0.552	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		8	88	1	0	0.00307968	1	0.003153	8	88				
COL24A1	255631	broad.mit.edu	37	1	86488275	86488275	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:86488275C>A	ENST00000370571.2	-	17	2515		c.e17-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTTCACCCTGGAAAGCAC	0.328																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.e17-1		collagen, type XXIV, alpha 1							62.0	62.0	62.0					1																	86488275		1867	4098	5965	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86488275C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2149-1G>T	1.37:g.86488275C>A						COL24A1_ENST00000436319.1_Splice_Site		NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	17	2515	-								C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37		CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419397	0.83559	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4498	0.87589	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86260863	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.661000	0.68025	2.634000	0.89283	0.655000	0.94253	.		0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	3	42	1	0	0.00909568	1	0.00909568	3	42				
CACNA1D	776	broad.mit.edu	37	3	53531240	53531240	+	Silent	SNP	G	G	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:53531240G>C	ENST00000350061.5	+	2	640	c.129G>C	c.(127-129)ccG>ccC	p.P43P	CACNA1D_ENST00000288139.4_Silent_p.P43P|CACNA1D_ENST00000422281.2_Silent_p.P43P	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	43					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCTCAGCCGAATAGCTCCA	0.488																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(127-129)ccG>ccC		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						72.0	75.0	74.0					3																	53531240		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53531240G>C	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.129G>C	3.37:g.53531240G>C						CACNA1D_ENST00000350061.5_Silent_p.P43P|CACNA1D_ENST00000422281.2_Silent_p.P43P	p.P43P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	2	247	+			43					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.129G>C	CCDS46848.1																																																																																				0.488	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		6	72	0	0	0	1	0	6	72				
COL25A1	84570	broad.mit.edu	37	4	109784483	109784483	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr4:109784483C>T	ENST00000399132.1	-	21	1674	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACCTTTGGTCCGGGGGCTCCA	0.453																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1144-1146)Gga>Aga		collagen, type XXV, alpha 1							54.0	55.0	55.0					4																	109784483		1823	4085	5908	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109784483C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1144G>A	4.37:g.109784483C>T	ENSP00000382083:p.Gly382Arg					COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R	p.G382R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	21	1674	-		Hepatocellular(203;0.217)	382			Collagen-like 5.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1144G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354121	0.61293	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99637	-5.77;-6.29;-5.77	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	H	0.98351	4.21	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96673	0.9498	9	.	.	.	-6.1918	19.4425	0.94827	0.0:1.0:0.0:0.0	.	382;382	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	382;384;363;378;382;312	ENSP00000382083:G382R;ENSP00000382078:G378R;ENSP00000382077:G382R	.	G	-	1	0	COL25A1	110003932	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	5.845000	0.69437	2.578000	0.87016	0.650000	0.86243	GGA		0.453	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		12	30	0	0	0	1	0	12	30				
JPH2	57158	broad.mit.edu	37	20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr20:42747223C>A	ENST00000372980.3	-	3	2082	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	404	Ala-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGGGCGGCCTGTTCCGCT	0.607																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1210-1212)Gcc>Tcc		junctophilin 2							97.0	98.0	98.0					20																	42747223		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42747223C>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1210G>T	20.37:g.42747223C>A	ENSP00000362071:p.Ala404Ser						p.A404S	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	2082	-		Myeloproliferative disorder(115;0.0122)	404			Ala-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1210G>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895190	0.91962	.	.	ENSG00000149596	ENST00000372980	T	0.69040	-0.37	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.74467	2.265	0.80722	D	1	D	0.62365	0.991	P	0.57204	0.815	T	0.81602	-0.0858	10	0.62326	D	0.03	.	16.6039	0.84823	0.0:1.0:0.0:0.0	.	404	Q9BR39	JPH2_HUMAN	S	404	ENSP00000362071:A404S	ENSP00000362071:A404S	A	-	1	0	JPH2	42180637	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.974000	0.76122	2.198000	0.70561	0.561000	0.74099	GCC		0.607	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			9	169	1	0	6.40141e-05	1	7.2437e-05	9	169				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	24	0	0	0	1	0	3	24				
PSD4	23550	broad.mit.edu	37	2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	rs146593284		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr2:113949974C>T	ENST00000245796.6	+	6	1841	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PSD4_ENST00000441564.3_Missense_Mutation_p.P521L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	549	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGGACACCGATGAACTCT	0.557																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1645-1647)cCg>cTg		pleckstrin and Sec7 domain containing 4			LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	184.0	191.0	189.0		1646	-3.9	0.0	2	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSD4	NM_012455.2	98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	549/1057	113949974	2,13004	2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113949974C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1646C>T	2.37:g.113949974C>T	ENSP00000245796:p.Pro549Leu					PSD4_ENST00000441564.2_Missense_Mutation_p.P521L	p.P549L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			6	1841	+			549			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1646C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	0.763	-0.768515	0.02974	2.27E-4	1.16E-4	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09723	2.95;3.0	3.93	-3.92	0.04155	.	1.186130	0.06672	N	0.766343	T	0.02649	0.0080	N	0.01576	-0.805	0.23611	N	0.997294	B;B;B	0.10296	0.0;0.003;0.002	B;B;B	0.06405	0.0;0.002;0.001	T	0.41770	-0.9490	10	0.14252	T	0.57	.	1.7799	0.03029	0.1571:0.1712:0.1466:0.5251	.	207;521;549	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	L	549;521	ENSP00000245796:P549L;ENSP00000413997:P521L	ENSP00000245796:P549L	P	+	2	0	PSD4	113666445	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.883000	0.04170	-0.775000	0.04584	-0.266000	0.10368	CCG		0.557	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		25	211	0	0	0	1	0	25	211				
FCER1A	2205	broad.mit.edu	37	1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:159275921C>A	ENST00000368115.1	+	5	574	c.475C>A	c.(475-477)Cac>Aac	p.H159N	FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	159	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTATGAGAACCACAACATCTC	0.488																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(475-477)Cac>Aac		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						181.0	158.0	166.0					1																	159275921		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275921C>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.475C>A	1.37:g.159275921C>A	ENSP00000357097:p.His159Asn					FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	p.H159N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			5	574	+	all_hematologic(112;0.0429)		159			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.475C>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	C	9.724	1.160329	0.21454	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12147	2.71;2.71	4.7	-3.8	0.04307	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.355120	0.04622	N	0.402118	T	0.01454	0.0047	N	0.05078	-0.115	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.43956	-0.9359	10	0.28530	T	0.3	.	3.5535	0.07855	0.3632:0.2788:0.0:0.358	.	159	P12319	FCERA_HUMAN	N	159;126	ENSP00000357097:H159N;ENSP00000357096:H126N	ENSP00000357096:H126N	H	+	1	0	FCER1A	157542545	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-1.302000	0.02746	-0.626000	0.05596	0.650000	0.86243	CAC		0.488	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		22	74	1	0	3.83957e-06	1	4.4622e-06	22	74				
PDLIM5	10611	broad.mit.edu	37	4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	12	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTGGCCCAGCTCCTTGGGG	0.403																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(34-36)Gct>Act		PDZ and LIM domain 5							66.0	65.0	65.0					4																	95376473		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95376473G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.34G>A	4.37:g.95376473G>A	ENSP00000321746:p.Ala12Thr					PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T	p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	2	170	+		Hepatocellular(203;0.114)	12			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.34G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510695	0.96386	.	.	ENSG00000163110	ENST00000359265;ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000512274;ENST00000503974;ENST00000504489;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;1.68;1.68;1.68;2.61;2.61;1.68;2.31;1.68;2.31;1.68;1.68	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.157494	0.41823	D	0.000815	T	0.67524	0.2902	M	0.62723	1.935	0.80722	D	1	D;D;D;D;P;P	0.71674	0.998;0.989;0.965;0.986;0.932;0.883	D;D;P;D;B;P	0.80764	0.994;0.927;0.86;0.917;0.303;0.755	T	0.69379	-0.5161	10	0.72032	D	0.01	.	18.1706	0.89744	0.0:0.0:1.0:0.0	.	12;12;12;12;12;12	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	T	12	ENSP00000352210:A12T;ENSP00000398469:A12T;ENSP00000369527:A12T;ENSP00000322021:A12T;ENSP00000401579:A12T;ENSP00000439795:A12T;ENSP00000321746:A12T;ENSP00000426379:A12T;ENSP00000424297:A12T;ENSP00000423009:A12T;ENSP00000426804:A12T;ENSP00000424360:A12T	ENSP00000321746:A12T	A	+	1	0	PDLIM5	95595496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.876000	0.63079	2.578000	0.87016	0.591000	0.81541	GCT		0.403	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			4	35	0	0	0	1	0	4	35				
JMJD1C	221037	broad.mit.edu	37	10	64967187	64967187	+	Silent	SNP	T	T	G			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1414					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTACTTCTGAACCACCCC	0.408																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4240-4242)tcA>tcC		jumonji domain containing 1C							124.0	123.0	123.0					10																	64967187		1932	4128	6060	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967187T>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4242A>C	10.37:g.64967187T>G						JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	p.S1414S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4460	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1414					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.4242A>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	3.775	-0.046928	0.07407	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.72	3.25	0.37280	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-5.3966	7.3828	0.26866	0.0:0.0688:0.2757:0.6555	.	.	.	.	P	100	.	.	Q	-	2	0	JMJD1C	64637193	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	0.387000	0.20718	0.963000	0.38082	0.482000	0.46254	CAG		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		17	148	0	0	0	1	0	17	148				
UBE2I	7329	broad.mit.edu	37	16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	123					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTAAATGAACCAAATATCCAA	0.532																																						ENST00000355803.4																			0				breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(367-369)cCa>cTa		ubiquitin-conjugating enzyme E2I							104.0	100.0	102.0					16																	1370473		2199	4300	6499	SO:0001583	missense	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1370473C>T	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.368C>T	16.37:g.1370473C>T	ENSP00000348056:p.Pro123Leu					LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L	p.P123L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN			6	919	+		Hepatocellular(780;0.00369)	123					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	ENST00000355803.4	37	c.368C>T	CCDS10433.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294575	0.81025	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.13	4.18	0.49190	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85305	0.1075	10	0.87932	D	0	.	11.3829	0.49768	0.0:0.9123:0.0:0.0877	.	123;123	B0QYN7;P63279	.;UBC9_HUMAN	L	123	ENSP00000324897:P123L;ENSP00000348056:P123L;ENSP00000380649:P123L;ENSP00000380650:P123L;ENSP00000384568:P123L;ENSP00000385009:P123L;ENSP00000384361:P123L	ENSP00000324897:P123L	P	+	2	0	UBE2I	1310474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	1.409000	0.46915	0.561000	0.74099	CCA		0.532	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		6	93	0	0	0	1	0	6	93				
ATP2B2	491	broad.mit.edu	37	3	10417120	10417120	+	Silent	SNP	C	C	T	rs556206364		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr3:10417120C>T	ENST00000352432.4	-	10	1479	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S	ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000343816.4_Silent_p.S456S|ATP2B2_ENST00000360273.2_Silent_p.S470S|ATP2B2_ENST00000397077.1_Silent_p.S425S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	470					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						TCACCTTCACCGAATAGGCCA	0.622																																					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.(1273-1275)tcG>tcA		ATPase, Ca++ transporting, plasma membrane 2							48.0	53.0	51.0					3																	10417120		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:10417120C>T	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.1410G>A	3.37:g.10417120C>T						ATP2B2_ENST00000343816.4_Silent_p.S456S|ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000352432.4_Silent_p.S470S|ATP2B2_ENST00000360273.2_Silent_p.S470S	p.S425S			Q01814	AT2B2_HUMAN			10	1850	-			470					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1275G>A	CCDS33701.1																																																																																				0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		8	48	0	0	0	1	0	8	48				
FAM120B	84498	broad.mit.edu	37	6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	483					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAATCCAGGCAAGAAGTTTT	0.453																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1447-1449)Caa>Taa		family with sequence similarity 120B							111.0	117.0	115.0					6																	170627925		2203	4300	6503	SO:0001587	stop_gained	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627925C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1447C>T	6.37:g.170627925C>T	ENSP00000417970:p.Gln483*					FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000252510.9_Intron	p.Q483*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1555	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	483					B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	ENST00000476287.1	37	c.1447C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	-	19.38	3.817043	0.70912	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	0.668	0.668	0.17912	.	1.671780	0.03925	U	0.284196	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	.	.	.	.	.	.	.	X	495;506;483	.	ENSP00000436640:Q483X	Q	+	1	0	FAM120B	170469850	0.011000	0.17503	0.018000	0.16275	0.046000	0.14306	1.261000	0.32980	0.623000	0.30267	0.205000	0.17691	CAA		0.453	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	200	0	0	0	1	0	9	200				
DDN	23109	broad.mit.edu	37	12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	376	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGTTCTCCTTCTTTCCCTTCC	0.632																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1126-1128)Gaa>Aaa		dendrin							49.0	46.0	47.0					12																	49391533		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391533C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1126G>A	12.37:g.49391533C>T	ENSP00000390590:p.Glu376Lys						p.E376K	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1147	-			376			Interaction with ACTN1.			Missense_Mutation	SNP	ENST00000421952.2	37	c.1126G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117337	0.37339	.	.	ENSG00000181418	ENST00000421952	T	0.47869	0.83	3.48	2.59	0.31030	.	0.000000	0.47093	D	0.000243	T	0.30759	0.0775	L	0.27053	0.805	0.35272	D	0.780551	B	0.12013	0.005	B	0.12156	0.007	T	0.29088	-1.0023	10	0.46703	T	0.11	-11.5308	7.0527	0.25081	0.0:0.875:0.0:0.125	.	376	O94850	DEND_HUMAN	K	376	ENSP00000390590:E376K	ENSP00000390590:E376K	E	-	1	0	DDN	47677800	0.953000	0.32496	0.983000	0.44433	0.903000	0.53119	1.097000	0.30988	1.076000	0.40961	-0.254000	0.11334	GAA		0.632	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			15	43	0	0	0	1	0	15	43				
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Intron	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr11:111780950G>T	ENST00000533475.1	-	3	774				CRYAB_ENST00000227251.3_Intron|HSPB2_ENST00000537382.1_5'Flank|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000533971.1_Missense_Mutation_p.P142Q|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533280.1_Intron|HSPB2_ENST00000304298.3_5'Flank|CRYAB_ENST00000526180.1_Intron|HSPB2-C11orf52_ENST00000534100.1_5'Flank	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B						aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418																																						ENST00000533971.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8						c.(424-426)cCa>cAa		crystallin, alpha B																																				SO:0001627	intron_variant	1410				anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	g.chr11:111780950G>T		CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"""Heat shock proteins / HSPB"""	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.324+100C>A	11.37:g.111780950G>T						CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000527950.1_Intron	p.P142Q			P02511	CRYAB_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	516	-		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Missense_Mutation	SNP	ENST00000533475.1	37	c.425C>A	CCDS8351.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672679	0.29693	.	.	ENSG00000109846	ENST00000533971	D	0.92199	-2.99	4.44	-0.0735	0.13735	.	.	.	.	.	D	0.84056	0.5388	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.72014	-0.4418	8	0.72032	D	0.01	.	0.2439	0.00196	0.3354:0.2275:0.239:0.1981	.	142	E9PRA8	.	Q	142	ENSP00000434269:P142Q	ENSP00000434269:P142Q	P	-	2	0	CRYAB	111286160	0.039000	0.19947	0.000000	0.03702	0.054000	0.15201	0.853000	0.27777	-0.004000	0.14419	-0.136000	0.14681	CCA		0.418	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391658.1			6	12	1	0	0.000157383	1	0.000173525	6	12				
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	lincRNA	DEL	A	A	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:700514delA	ENST00000428504.1	-	0	1039				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						actccatctcaaaaaaaaaaa	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700514delA																													1.37:g.700514delA								NR_033908.1						0	1039	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			2	4						2	4	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gat>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	p.DD541del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			8	93						8	93	---	---	---	---
CAPSL	133690	broad.mit.edu	37	5	35910128	35910128	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:35910128delT	ENST00000397367.2	-	4	491	c.365delA	c.(364-366)aagfs	p.K122fs	CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	122	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTGTCTAACTTTCTAAAAGC	0.388																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(364-366)agfs		calcyphosine-like							142.0	137.0	139.0					5																	35910128		2203	4300	6503	SO:0001589	frameshift_variant	133690					cytoplasm	calcium ion binding	g.chr5:35910128delT	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.365delA	5.37:g.35910128delT	ENSP00000380524:p.Lys122fs					CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	p.K122fs	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	491	-	all_lung(31;0.000268)		122			EF-hand 3.			Frame_Shift_Del	DEL	ENST00000397367.2	37	c.365delA	CCDS3912.2																																																																																				0.388	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		33	68						33	68	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	4						2	4	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34857303	34857320	+	In_Frame_Del	DEL	GGCGGCGGCGGCGGCAGC	GGCGGCGGCGGCGGCAGC	-	rs190026995	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:34857303_34857320delGGCGGCGGCGGCGGCAGC	ENST00000360359.3	+	1	262_279	c.124_141delGGCGGCGGCGGCGGCAGC	c.(124-141)ggcggcggcggcggcagcdel	p.GGGGGS42del	TAF11_ENST00000361288.4_5'Flank|TAF11_ENST00000420584.2_5'Flank|ANKS1A_ENST00000535627.1_In_Frame_Del_p.GGGGGS42del	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	42	Gly-rich.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						tggctctgggggcggcggcggcggcagcggcggcggcg	0.775																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(124-141)del		ankyrin repeat and sterile alpha motif domain containing 1A																																				SO:0001651	inframe_deletion	23294					cytoplasm	protein binding	g.chr6:34857303_34857320delGGCGGCGGCGGCGGCAGC	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.124_141delGGCGGCGGCGGCGGCAGC	6.37:g.34857303_34857320delGGCGGCGGCGGCGGCAGC	ENSP00000353518:p.Gly42_Ser47del					ANKS1A_ENST00000535627.1_In_Frame_Del_p.GGGGGS42del	p.GGGGGS42del	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			1	262_279	+			42			Gly-rich.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	In_Frame_Del	DEL	ENST00000360359.3	37	c.124_141delGGCGGCGGCGGCGGCAGC	CCDS4798.1																																																																																				0.775	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		3	4						3	4	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		8	157						8	157	---	---	---	---
FABP4	2167	broad.mit.edu	37	8	82391107	82391107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:82391107delC	ENST00000256104.4	-	4	487	c.392delG	c.(391-393)agafs	p.R131fs	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	131					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GGCTTATGCTCTCTCATAAAC	0.383																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(391-393)aafs		fatty acid binding protein 4, adipocyte							191.0	159.0	170.0					8																	82391107		2203	4300	6503	SO:0001589	frameshift_variant	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82391107delC	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.392delG	8.37:g.82391107delC	ENSP00000256104:p.Arg131fs					FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	p.R131fs	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		4	487	-			131					Q6IBA1	Frame_Shift_Del	DEL	ENST00000256104.4	37	c.392delG	CCDS6230.1																																																																																				0.383	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		18	59						18	59	---	---	---	---
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr9:95228754delT	ENST00000375544.3	-	4	730	c.487delA	c.(487-489)agtfs	p.S163fs	ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(487-489)gtfs		asporin							225.0	212.0	217.0					9																	95228754		2203	4300	6503	SO:0001589	frameshift_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95228754delT	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.487delA	9.37:g.95228754delT	ENSP00000364694:p.Ser163fs					ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs	p.S163fs	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			4	730	-			163					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Frame_Shift_Del	DEL	ENST00000375544.3	37	c.487delA																																																																																					0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		22	110						22	110	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47692564	47692565	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr21:47692564_47692565delGT	ENST00000397708.1	-	9	2629_2630	c.2375_2376delAC	c.(2374-2376)gacfs	p.D792fs	MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	792	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTTTCTCAGGTCCTGGTACAT	0.5																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2374-2376)gfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47692564_47692565delGT	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2375_2376delAC	21.37:g.47692564_47692565delGT	ENSP00000380820:p.Asp792fs					MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs	p.D792fs			O60318	MCM3A_HUMAN			9	2629_2630	-	Breast(49;0.112)		792					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Del	DEL	ENST00000397708.1	37	c.2375_2376delAC	CCDS13734.1																																																																																				0.500	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		45	102						45	102	---	---	---	---
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	lincRNA	DEL	A	A	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:700514delA	ENST00000428504.1	-	0	1039				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						actccatctcaaaaaaaaaaa	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700514delA																													1.37:g.700514delA								NR_033908.1						0	1039	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			2	4						2	4	---	---	---	---
TRNAU1AP	54952	broad.mit.edu	37	1	28906819	28906820	+	IGR	INS	-	-	AAAA	rs147786269|rs397936635		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr1:28906819_28906820insAAAA	ENST00000373830.3	+	0	1793				SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000384581.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000488745.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						gactccgtctcaaaaaaaaaaa	0.49																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:28906819_28906820insAAAA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906824_28906827dupAAAA						SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA								0	1100	-								Q86SU7	RNA	INS	ENST00000373830.3	37		CCDS324.1																																																																																				0.490	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		3	6						3	6	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3412-3414)agfs		transcriptional regulating factor 1							245.0	274.0	264.0					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs	p.K1138fs			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3981	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3413delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	646						7	646	---	---	---	---
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr9:95228754delT	ENST00000375544.3	-	4	730	c.487delA	c.(487-489)agtfs	p.S163fs	ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(487-489)gtfs		asporin							225.0	212.0	217.0					9																	95228754		2203	4300	6503	SO:0001589	frameshift_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95228754delT	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.487delA	9.37:g.95228754delT	ENSP00000364694:p.Ser163fs					ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs	p.S163fs	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			4	730	-			163					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Frame_Shift_Del	DEL	ENST00000375544.3	37	c.487delA																																																																																					0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		22	110						22	110	---	---	---	---
CTB-91J4.1	0	broad.mit.edu	37	17	34445618	34445619	+	RNA	INS	-	-	C	rs372745228|rs140924077	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr17:34445618_34445619insC	ENST00000592460.1	+	0	41																											ACTGCCCCCCACCCCCCCACCC	0.599													?|CCCCCCC|CCCCCCCC|unsure	4192	0.837061	0.9244	0.8934	5008	,	,		17070	0.6736		0.832	False		,,,				2504	0.8528					ENST00000592460.1																			0																																																			0							g.chr17:34445618_34445619insC																													17.37:g.34445625_34445625dupC														0	41	+									RNA	INS	ENST00000592460.1	37																																																																																						0.599	CTB-91J4.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000450617.1			2	4						2	4	---	---	---	---
