#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
LOC728323	728323	broad.mit.edu	37	2	243061143	243061143	+	RNA	SNP	A	A	G	rs202109001		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr2:243061143A>G	ENST00000456398.1	+	0	491																											CTTGGGAGAAACCTTTAATCG	0.358																																						ENST00000456398.1																			0																																																			0							g.chr2:243061143A>G																													2.37:g.243061143A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	491	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.358	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			4	105	0	0	0	1	0	4	105				
FAT2	2196	broad.mit.edu	37	5	150948137	150948137	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr5:150948137A>G	ENST00000261800.5	-	1	368	c.356T>C	c.(355-357)aTc>aCc	p.I119T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	119	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCTTGGATGATGAGGGT	0.517																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(355-357)aTc>aCc		FAT atypical cadherin 2							121.0	119.0	120.0					5																	150948137		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150948137A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.356T>C	5.37:g.150948137A>G	ENSP00000261800:p.Ile119Thr		Somatic					p.I119T	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	368	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	119			Cadherin 1.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.356T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994409	0.54041	.	.	ENSG00000086570	ENST00000261800	T	0.66638	-0.22	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.541443	0.18142	N	0.150374	T	0.73048	0.3537	M	0.91663	3.23	0.43527	D	0.995803	B	0.32245	0.361	B	0.24541	0.054	T	0.77466	-0.2577	10	0.87932	D	0	.	15.5309	0.75960	1.0:0.0:0.0:0.0	.	119	Q9NYQ8	FAT2_HUMAN	T	119	ENSP00000261800:I119T	ENSP00000261800:I119T	I	-	2	0	FAT2	150928330	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	9.262000	0.95591	2.065000	0.61736	0.454000	0.30748	ATC		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		12	93	0	0	0	1	0	12	93				
EXD1	161829	broad.mit.edu	37	15	41501729	41501729	+	Silent	SNP	T	T	C	rs370262959		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr15:41501729T>C	ENST00000314992.5	-	5	520	c.330A>G	c.(328-330)gtA>gtG	p.V110V	EXD1_ENST00000458580.2_Silent_p.V168V	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	110	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CATGGCGACATACATTCGCTC	0.378																																						ENST00000314992.5																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(328-330)gtA>gtG		exonuclease 3'-5' domain containing 1		T		0,4406		0,0,2203	68.0	62.0	64.0		330	1.8	1.0	15		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EXD1	NM_152596.2		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		110/515	41501729	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41501729T>C	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.330A>G	15.37:g.41501729T>C			Somatic				EXD1_ENST00000458580.2_Silent_p.V168V	p.V110V	NM_152596.2	NP_689809.2	WXS	Illumina GAIIx	Phase_I	Q8NHP7	EXD1_HUMAN			5	520	-			110			3'-5' exonuclease.		A8K909|B7Z839|Q6ZW94	Silent	SNP	ENST00000314992.5	37	c.330A>G	CCDS10072.1																																																																																				0.378	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		12	36	0	0	0	1	0	12	36				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		9	22	0	0	0	1	0	9	22				
SYNE1	23345	broad.mit.edu	37	6	152763338	152763338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr6:152763338G>A	ENST00000367255.5	-	31	4481	c.3880C>T	c.(3880-3882)Cag>Tag	p.Q1294*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1360*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q1284*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q1294*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1294					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGATCTGCTGCTGCACATCT	0.542										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3880-3882)Cag>Tag		spectrin repeat containing, nuclear envelope 1							81.0	71.0	74.0					6																	152763338		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763338G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3880C>T	6.37:g.152763338G>A	ENSP00000356224:p.Gln1294*	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1360*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q1284*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q1294*	p.Q1294*	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4481	-		Ovarian(120;0.0955)	1294					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.3880C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	43	10.124505	0.99342	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	.	.	.	5.41	2.39	0.29439	.	0.237208	0.29551	N	0.011825	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.1528	0.59498	0.0:0.314:0.5746:0.1115	.	.	.	.	X	1294;1301;1294;1301;1360;1294;1284;1294	.	ENSP00000265368:Q1294X	Q	-	1	0	SYNE1	152805031	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	1.698000	0.37794	0.710000	0.31997	0.650000	0.86243	CAG		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	46	0	0	0	1	0	17	46				
MEGF8	1954	broad.mit.edu	37	19	42857739	42857739	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr19:42857739G>A	ENST00000251268.6	+	21	3673	c.3673G>A	c.(3673-3675)Gac>Aac	p.D1225N	MEGF8_ENST00000334370.4_Missense_Mutation_p.D1158N	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1225	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGCCACTGCGACAACCTCAG	0.692																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3472-3474)Gac>Aac		multiple EGF-like-domains 8							13.0	12.0	12.0					19																	42857739		2197	4282	6479	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42857739G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.3673G>A	19.37:g.42857739G>A	ENSP00000251268:p.Asp1225Asn		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.D1225N	p.D1158N	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			20	4107	+		Prostate(69;0.00682)	1225					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.3472G>A		.	.	.	.	.	.	.	.	.	.	G	15.97	2.989551	0.53934	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.62941	-0.01;-0.01	5.47	4.37	0.52481	EGF-like, laminin (3);	0.065812	0.64402	D	0.000011	T	0.62307	0.2417	L	0.37850	1.14	0.80722	D	1	D;D	0.67145	0.996;0.987	P;P	0.58331	0.837;0.597	T	0.54221	-0.8326	10	0.11182	T	0.66	-36.3793	13.4243	0.61015	0.0:0.1588:0.8412:0.0	.	1225;1158	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	N	1158;1225	ENSP00000334219:D1158N;ENSP00000251268:D1225N	ENSP00000251268:D1225N	D	+	1	0	MEGF8	47549579	0.999000	0.42202	0.998000	0.56505	0.976000	0.68499	3.172000	0.50832	2.580000	0.87095	0.561000	0.74099	GAC		0.692	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		3	3	0	0	0	1	0	3	3				
NR3C1	2908	broad.mit.edu	37	5	142780179	142780179	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr5:142780179G>A	ENST00000343796.2	-	2	1219	c.226C>T	c.(226-228)Cca>Tca	p.P76S	NR3C1_ENST00000394464.2_Missense_Mutation_p.P76S|NR3C1_ENST00000504572.1_Missense_Mutation_p.P76S|NR3C1_ENST00000415690.2_Missense_Mutation_p.P76S|NR3C1_ENST00000424646.2_Missense_Mutation_p.P76S|NR3C1_ENST00000231509.3_Missense_Mutation_p.P76S|NR3C1_ENST00000503201.1_Missense_Mutation_p.P76S|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394466.2_Missense_Mutation_p.P76S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	76	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GACAGATCTGGCTGCTGCGCA	0.493																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(226-228)Cca>Tca		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						132.0	145.0	140.0					5																	142780179		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142780179G>A	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.226C>T	5.37:g.142780179G>A	ENSP00000343205:p.Pro76Ser		Somatic				NR3C1_ENST00000394466.2_Missense_Mutation_p.P76S|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Missense_Mutation_p.P76S|NR3C1_ENST00000504572.1_Missense_Mutation_p.P76S|NR3C1_ENST00000424646.2_Missense_Mutation_p.P76S|NR3C1_ENST00000503201.1_Missense_Mutation_p.P76S|NR3C1_ENST00000231509.3_Missense_Mutation_p.P76S|NR3C1_ENST00000415690.2_Missense_Mutation_p.P76S	p.P76S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	WXS	Illumina GAIIx	Phase_I	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1219	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	76			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.226C>T	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705615	0.68615	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.80746	2.51	0.80722	D	1	P;B;P	0.48998	0.918;0.201;0.756	P;B;P	0.50708	0.648;0.26;0.524	T	0.57225	-0.7848	10	0.54805	T	0.06	.	18.3334	0.90279	0.0:0.0:1.0:0.0	.	76;76;76	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	S	76	ENSP00000377977:P76S;ENSP00000343205:P76S;ENSP00000387672:P76S;ENSP00000405282:P76S;ENSP00000422518:P76S;ENSP00000377979:P76S;ENSP00000231509:P76S;ENSP00000427672:P76S;ENSP00000424747:P76S;ENSP00000425313:P76S;ENSP00000420856:P76S;ENSP00000426478:P76S;ENSP00000425374:P76S	ENSP00000231509:P76S	P	-	1	0	NR3C1	142760372	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	6.173000	0.71937	2.400000	0.81607	0.561000	0.74099	CCA		0.493	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			50	70	0	0	0	1	0	50	70				
LINC00174	285908	broad.mit.edu	37	7	65842570	65842570	+	lincRNA	SNP	A	A	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr7:65842570A>T	ENST00000421767.1	-	0	3162					NR_026873.1				long intergenic non-protein coding RNA 174																		GGCTTATTTCAGGACGATTTG	0.557																																						ENST00000421767.1																			0																				37.0	33.0	34.0					7																	65842570		2203	4300	6503			0							g.chr7:65842570A>T	AK091213		7q11.21	2013-12-05	2013-12-05	2013-12-05	ENSG00000179406	ENSG00000179406		"""Long non-coding RNAs"""	27788	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 174"""	NCRNA00174			Standard	NR_026873		Approved		uc003tux.4		OTTHUMG00000156590		7.37:g.65842570A>T			Somatic						NR_026873.1		WXS	Illumina GAIIx	Phase_I					0	3162	-									RNA	SNP	ENST00000421767.1	37																																																																																						0.557	LINC00174-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344721.1	NR_026873		4	11	0	0	0	1	0	4	11				
H2AFZ	3015	broad.mit.edu	37	4	100870470	100870470	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr4:100870470G>A	ENST00000296417.5	-	3	372	c.155C>T	c.(154-156)gCt>gTt	p.A52V	RP11-15B17.1_ENST00000514624.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank|H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	52					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		GCTGTACACAGCGGCAGTCGC	0.542											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(154-156)gCt>gTt		H2A histone family, member Z							53.0	51.0	51.0					4																	100870470		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870470G>A	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.155C>T	4.37:g.100870470G>A	ENSP00000296417:p.Ala52Val		Somatic	OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	H2AFZ_ENST00000529158.1_5'UTR	p.A52V	NM_002106.3	NP_002097.1	WXS	Illumina GAIIx	Phase_I	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	3	372	-			52					B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.155C>T	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999941	0.93227	.	.	ENSG00000164032	ENST00000296417	T	0.65178	-0.14	3.75	3.75	0.43078	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.78637	2.42	0.80722	D	1	D	0.67145	0.996	P	0.58077	0.832	T	0.81028	-0.1118	10	0.72032	D	0.01	.	15.7657	0.78126	0.0:0.0:1.0:0.0	.	52	P0C0S5	H2AZ_HUMAN	V	52	ENSP00000296417:A52V	ENSP00000296417:A52V	A	-	2	0	H2AFZ	101089493	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.839000	0.75364	1.925000	0.55765	0.650000	0.86243	GCT		0.542	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		13	24	0	0	0	1	0	13	24				
TMEM68	137695	broad.mit.edu	37	8	56675150	56675150	+	Intron	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr8:56675150G>A	ENST00000434581.2	-	3	525				TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Intron|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Silent_p.C123C|TMEM68_ENST00000521229.1_Silent_p.C123C			Q96MH6	TMM68_HUMAN	transmembrane protein 68							integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TTCCAATGCAGCACACATGAA	0.403																																						ENST00000521229.1																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(367-369)tgC>tgT		transmembrane protein 68							81.0	74.0	77.0					8																	56675150		2203	4300	6503	SO:0001627	intron_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56675150G>A	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.325+43C>T	8.37:g.56675150G>A			Somatic				TMEM68_ENST00000522576.1_Silent_p.C123C|TMEM68_ENST00000434581.2_Intron|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Intron	p.C123C			WXS	Illumina GAIIx	Phase_I	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		3	581	-			0					Q658X6|Q8WUD2	Silent	SNP	ENST00000434581.2	37	c.369C>T																																																																																					0.403	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		4	102	0	0	0	1	0	4	102				
HIRA	7290	broad.mit.edu	37	22	19343354	19343354	+	Silent	SNP	C	C	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr22:19343354C>T	ENST00000263208.5	-	21	2746	c.2490G>A	c.(2488-2490)acG>acA	p.T830T	HIRA_ENST00000340170.4_Silent_p.T623T|HIRA_ENST00000541063.1_Silent_p.T786T|HIRA_ENST00000546308.1_Intron	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	830	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCCATGCTGCGTCAGCAAGA	0.478																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(2488-2490)acG>acA		histone cell cycle regulator							165.0	114.0	131.0					22																	19343354		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19343354C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2490G>A	22.37:g.19343354C>T			Somatic				HIRA_ENST00000340170.4_Silent_p.T623T|HIRA_ENST00000541063.1_Silent_p.T786T|HIRA_ENST00000546308.1_Intron	p.T830T	NM_003325.3	NP_003316.3	WXS	Illumina GAIIx	Phase_I	P54198	HIRA_HUMAN			21	2746	-	Colorectal(54;0.0993)		830			Interaction with histone H4.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.2490G>A	CCDS13759.1																																																																																				0.478	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		8	17	0	0	0	1	0	8	17				
CHST2	9435	broad.mit.edu	37	3	142840445	142840445	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr3:142840445C>T	ENST00000309575.3	+	2	2171	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	263					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CTCGTCACCACTCTGCCCCGC	0.672																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(787-789)Ctc>Ttc		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							20.0	24.0	23.0					3																	142840445		2201	4299	6500	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840445C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.787C>T	3.37:g.142840445C>T	ENSP00000307911:p.Leu263Phe		Somatic					p.L263F	NM_004267.4	NP_004258.2	WXS	Illumina GAIIx	Phase_I	Q9Y4C5	CHST2_HUMAN			2	2171	+			263					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.787C>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415669	0.42817	.	.	ENSG00000175040	ENST00000309575	D	0.96459	-4.02	4.17	4.17	0.49024	Sulfotransferase domain (1);	0.000000	0.56097	U	0.000026	D	0.96291	0.8790	L	0.36672	1.1	0.58432	D	0.999996	D	0.76494	0.999	D	0.79784	0.993	D	0.94391	0.7614	10	0.14656	T	0.56	-16.2734	16.6656	0.85252	0.0:1.0:0.0:0.0	.	263	Q9Y4C5	CHST2_HUMAN	F	263	ENSP00000307911:L263F	ENSP00000307911:L263F	L	+	1	0	CHST2	144323135	1.000000	0.71417	0.771000	0.31576	0.403000	0.30841	4.781000	0.62389	2.152000	0.67230	0.407000	0.27541	CTC		0.672	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		8	2	0	0	0	1	0	8	2				
FBXL13	222235	broad.mit.edu	37	7	102669190	102669190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr7:102669190C>T	ENST00000313221.4	-	4	500	c.74G>A	c.(73-75)tGg>tAg	p.W25*	FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000393772.2_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.W25*|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.W25*	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	25										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TATGTCTCTCCAAGTGCTGCA	0.318																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(73-75)tGg>tAg		F-box and leucine-rich repeat protein 13							79.0	71.0	74.0					7																	102669190		2203	4300	6503	SO:0001587	stop_gained	222235							g.chr7:102669190C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.74G>A	7.37:g.102669190C>T	ENSP00000321927:p.Trp25*		Somatic				FBXL13_ENST00000379305.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.W25*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.W25*|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.W25*	p.W25*			WXS	Illumina GAIIx	Phase_I	Q8NEE6	FXL13_HUMAN			4	500	-			25					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Nonsense_Mutation	SNP	ENST00000313221.4	37	c.74G>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	37	6.582179	0.97680	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	.	.	.	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7814	0.52018	0.0:1.0:0.0:0.0	.	.	.	.	X	25;25;25;25;25;25;25;25;115	.	ENSP00000321927:W25X	W	-	2	0	FBXL13	102456426	0.998000	0.40836	0.922000	0.36590	0.575000	0.36095	2.871000	0.48459	2.489000	0.83994	0.460000	0.39030	TGG		0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		4	39	0	0	0	1	0	4	39				
PRKD1	5587	broad.mit.edu	37	14	30108044	30108044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr14:30108044G>A	ENST00000331968.5	-	5	992	c.763C>T	c.(763-765)Cga>Tga	p.R255*	PRKD1_ENST00000415220.2_Nonsense_Mutation_p.R263*|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	255					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGAATTGGTCGTCCAATGTAT	0.418																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(763-765)Cga>Tga		protein kinase D1							98.0	97.0	97.0					14																	30108044		2203	4300	6503	SO:0001587	stop_gained	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30108044G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.763C>T	14.37:g.30108044G>A	ENSP00000333568:p.Arg255*		Somatic				PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Nonsense_Mutation_p.R263*	p.R255*	NM_002742.2	NP_002733.2	WXS	Illumina GAIIx	Phase_I	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	5	992	-	Hepatocellular(127;0.0604)		255					A6NL64|B2RAF6	Nonsense_Mutation	SNP	ENST00000331968.5	37	c.763C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	37	6.102455	0.97286	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	.	.	.	5.45	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9893	14.728	0.69360	0.0:0.0:0.7502:0.2498	.	.	.	.	X	255;263	.	ENSP00000333568:R255X	R	-	1	2	PRKD1	29177795	1.000000	0.71417	0.987000	0.45799	0.862000	0.49288	3.985000	0.56930	0.712000	0.32039	0.650000	0.86243	CGA		0.418	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		23	31	0	0	0	1	0	23	31				
SH2D5	400745	broad.mit.edu	37	1	21051092	21051092	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr1:21051092delG	ENST00000444387.2	-	6	824	c.427delC	c.(427-429)cagfs	p.Q143fs	SH2D5_ENST00000375031.1_Frame_Shift_Del_p.Q59fs|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	143										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAAGCCAGCTGGAAAGAGCGG	0.657																																						ENST00000375031.1																			0				lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(175-177)cagfs		SH2 domain containing 5							13.0	16.0	15.0					1																	21051092		2019	4183	6202	SO:0001589	frameshift_variant	400745							g.chr1:21051092delG	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.427delC	1.37:g.21051092delG	ENSP00000406026:p.Gln143fs		Somatic				SH2D5_ENST00000444387.2_Frame_Shift_Del_p.Q143fs|SH2D5_ENST00000460804.1_5'UTR	p.Q59fs	NM_001103160.1	NP_001096630.1	WXS	Illumina GAIIx	Phase_I	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	799	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	59					B7Z3W3|Q5SSJ2	Frame_Shift_Del	DEL	ENST00000444387.2	37	c.175delC	CCDS44080.1																																																																																				0.657	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		2	4						2	4	---	---	---	---
PTP4A3	11156	broad.mit.edu	37	8	142444235	142444238	+	IGR	DEL	GGGT	GGGT	-	rs371671775		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr8:142444235_142444238delGGGT	ENST00000521578.1	+	0	1717				CTD-3064M3.7_ENST00000606664.1_RNA|MROH5_ENST00000430863.1_RNA			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3						peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GGTGTTGGGGGGGTGGGGGGTGGG	0.637																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5																																				SO:0001628	intergenic_variant	389690							g.chr8:142444235_142444238delGGGT	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365			8.37:g.142444235_142444238delGGGT			Somatic						NM_207414.2	NP_997297.2	WXS	Illumina GAIIx	Phase_I					0	3937	-								Q8IVN5|Q99849|Q9BTW5	RNA	DEL	ENST00000521578.1	37		CCDS6383.1																																																																																				0.637	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		3	4						3	4	---	---	---	---
