#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
FAM69B	138311	broad.mit.edu	37	9	139620492	139620492	+	IGR	SNP	A	A	G			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr9:139620492A>G	ENST00000371692.4	+	0	1668				SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000391185.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TCCCTCATGGAGCAAACCAGG	0.502																																						ENST00000414282.1											0																																														SO:0001628	intergenic_variant	0						g.chr9:139620492A>G			CCDS7004.1	CCDS7004.1	9q34.3	2012-08-03			2012-08-03			ENSG00000165716	ENSG00000165716	ENSG00000165716	ENSG00000165716				28290	28290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614543	614543						21334309	21334309	Standard	Standard	NM_152421	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	uc004cik.3	Q5VUD6	Q5VUD6	OTTHUMG00000020940	OTTHUMG00000020940		9.37:g.139620492A>G			SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000436596.1_RNA								0	451	-					Q5VUD7|Q8N5N0|Q8WYU5	RNA	SNP	ENST00000371692.4	37		CCDS7004.1																																																																																									0.502	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1		-0.705156	12	12	86	86	NM_152421		3	6.972752	6.972752	38	0.073171	0	0	0	1	0	3	38	0.073171
IGSF11	152404	broad.mit.edu	37	3	118824025	118824025	+	Silent	SNP	T	T	C			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:118824025T>C	ENST00000425327.2	-	2	283	c.15A>G	c.(13-15)gaA>gaG	p.E5E	IGSF11_ENST00000441144.2_Silent_p.E5E|IGSF11_ENST00000354673.2_Silent_p.E5E			Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	10					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAGCAAAAGTTCCACCAGAG	0.358																																						ENST00000354673.2											0			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(13-15)gaA>gaG	immunoglobulin superfamily, member 11						110.0	106.0	107.0					3																	118824025		2203	4300	6503	SO:0001819	synonymous_variant	152404			cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118824025T>C	AB079879	AB079879	CCDS2983.1, CCDS46891.1	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			2013-01-11			ENSG00000144847	ENSG00000144847	ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"""	16669	16669	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	"""cancer/testis antigen 119"""	608351	608351						12207903	12207903	Standard	Standard	XM_006713516	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	uc003ebw.3	Q5DX21	Q5DX21	OTTHUMG00000159387	OTTHUMG00000159387	ENST00000425327.2:c.15A>G	3.37:g.118824025T>C			IGSF11_ENST00000441144.2_Silent_p.E5E|IGSF11_ENST00000425327.2_Silent_p.E5E	p.E5E	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			3	395	-			0		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000425327.2	37	c.15A>G	CCDS2983.1																																																																																									0.358	IGSF11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355074.2		38.996391	-21	-21	36	36			12	39.029962	39.029962	14	0.461538	0	0	0	1	0	12	14	0.461538
ITPR2	3709	ucsc.edu	37	12	26596576	26596576	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr12:26596576C>T	ENST00000381340.3	-	46	6766	c.6350G>A	c.(6349-6351)cGc>cAc	p.R2117H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2117					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTTATTGTGGCGGGCCAACTA	0.423																																																	0																	129.0	119.0	122.0					12																	26596576		1877	4116	5993	SO:0001583	missense	3709							D26350	D26350	CCDS41764.1	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	"""Ion channels / Inositol triphosphate receptors"""	6181	6181	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	"""cilia and flagella associated protein 48"""	600144	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""		"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	8081734	Standard	Standard	XM_006719064	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	uc001rhg.3	Q14571	Q14571	OTTHUMG00000169181	OTTHUMG00000169181	ENST00000381340.3:c.6350G>A	12.37:g.26596576C>T	ENSP00000370744:p.Arg2117His																	O94773	Missense_Mutation	SNP	ENST00000381340.3	37		CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290020	0.59976	.	.	ENSG00000123104	ENST00000381340	D	0.92048	-2.96	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93283	0.6662	10	0.40728	T	0.16	.	18.5753	0.91153	0.0:1.0:0.0:0.0	.	2117	Q14571	ITPR2_HUMAN	H	2117	ENSP00000370744:R2117H	ENSP00000370744:R2117H	R	-	2	0	0	ITPR2	26487843	26487843	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.342000	0.79310	2.692000	0.91855	0.655000	0.94253	CGC		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1			13	13	67	67	NM_002223		4			38							4	38	
KIAA1549	57670	broad.mit.edu	37	7	138552831	138552831	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr7:138552831C>T	ENST00000422774.1	-	15	4867	c.4819G>A	c.(4819-4821)Gtc>Atc	p.V1607I	KIAA1549_ENST00000242365.4_Missense_Mutation_p.V1557I|KIAA1549_ENST00000440172.1_Missense_Mutation_p.V1607I			Q9HCM3	K1549_HUMAN	KIAA1549	1607						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCCGTTGACCTGGTGTTTC	0.552			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1		Dom	yes		7	7q34	57670	KIAA1549		O	0			large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(4819-4821)Gtc>Atc	KIAA1549						50.0	58.0	56.0					7																	138552831		2057	4191	6248	SO:0001583	missense	57670				integral to membrane		g.chr7:138552831C>T			CCDS47723.1, CCDS47723.2, CCDS56513.1	CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			2009-10-09			ENSG00000122778	ENSG00000122778	ENSG00000122778	ENSG00000122778				22219	22219	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613344	613344								Standard	Standard	NM_020910	NM_020910		Approved		uc011kql.2	uc011kql.2	Q9HCM3	Q9HCM3	OTTHUMG00000157214	OTTHUMG00000157214	ENST00000422774.1:c.4819G>A	7.37:g.138552831C>T	ENSP00000416040:p.Val1607Ile		KIAA1549_ENST00000242365.4_Missense_Mutation_p.V1557I|KIAA1549_ENST00000422774.1_Missense_Mutation_p.V1607I	p.V1607I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			15	4867	-			1607		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.4819G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	6.767	0.510352	0.12883	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21734	1.99;2.0;2.0	4.53	3.64	0.41730	4.53	3.64	0.41730	.	0.324362	0.32655	N	0.005815	T	0.04497	0.0123	N	0.00707	-1.245	0.26509	N	0.974629	B;B;B;B	0.29552	0.248;0.0;0.208;0.0	B;B;B;B	0.25884	0.064;0.001;0.038;0.001	T	0.37798	-0.9690	10	0.06625	T	0.88	.	8.2926	0.31967	0.0:0.8437:0.0:0.1563	.	1607;391;1607;391	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	I	1607;1557;1607	ENSP00000406661:V1607I;ENSP00000242365:V1557I;ENSP00000416040:V1607I	ENSP00000242365:V1557I	V	-	1	0	0	KIAA1549	138203371	138203371	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.542000	0.36137	2.493000	0.84123	0.655000	0.94253	GTC		0.552	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		23.193056	-11	-11	32	32			8	23.782943	23.782943	16	0.333333	0	0	0	1	0	8	16	0.333333
RNF213	57674	broad.mit.edu	37	17	78332109	78332109	+	Silent	SNP	C	C	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr17:78332109C>T	ENST00000582970.1	+	37	11027	c.10884C>T	c.(10882-10884)gtC>gtT	p.V3628V	RNF213_ENST00000336301.6_Silent_p.V1701V|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.V3677V|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3628					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAAGCGGGTCCAAGGTGCTG	0.572																																						ENST00000582970.1											0			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10882-10884)gtC>gtT	ring finger protein 213						70.0	61.0	64.0					17																	78332109		2203	4300	6503	SO:0001819	synonymous_variant	57674						g.chr17:78332109C>T	AK074030	AK074030	CCDS58606.1	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	"""RING-type (C3HC4) zinc fingers"""	14539	14539	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613768	613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	10997877, 21048783, 21799892	Standard	Standard	NM_020954	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	uc021uen.2	Q63HN8	Q63HN8			ENST00000582970.1:c.10884C>T	17.37:g.78332109C>T			RNF213_ENST00000336301.6_Silent_p.V1701V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.V3677V	p.V3628V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		37	11027	+	all_neural(118;0.0538)		0		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.10884C>T	CCDS58606.1																																																																																									0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		33.488526	-19	-19	43	43	NM_020914		12	34.373886	34.373886	24	0.333333	0	0	0	1	0	12	24	0.333333
SCN11A	11280	broad.mit.edu	37	3	38938527	38938527	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:38938527G>T	ENST00000302328.3	-	14	2410	c.2212C>A	c.(2212-2214)Ccg>Acg	p.P738T	SCN11A_ENST00000456224.3_Missense_Mutation_p.P738T|SCN11A_ENST00000450244.1_Missense_Mutation_p.P738T|SCN11A_ENST00000444237.2_Missense_Mutation_p.P738T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	738					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCCTGTCGGGTTACAGAGT	0.502																																						ENST00000450244.1											0			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2212-2214)Ccg>Acg	sodium channel, voltage-gated, type XI, alpha subunit						101.0	92.0	95.0					3																	38938527		2203	4300	6503	SO:0001583	missense	11280			response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938527G>T	AF126739	AF126739	CCDS33737.1	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356	ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	10583	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604385	604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	10444332, 16382098	Standard	Standard	NM_014139	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	uc021wvy.1	Q9UI33	Q9UI33	OTTHUMG00000048246	OTTHUMG00000048246	ENST00000302328.3:c.2212C>A	3.37:g.38938527G>T	ENSP00000307599:p.Pro738Thr		SCN11A_ENST00000456224.3_Missense_Mutation_p.P738T|SCN11A_ENST00000444237.2_Missense_Mutation_p.P738T|SCN11A_ENST00000302328.3_Missense_Mutation_p.P738T	p.P738T			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2410	-			738		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2212C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	0.972	-0.699833	0.03279	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96136	-3.92;-3.92;-3.87;-3.74	0.225	0.225	0.15325	0.225	0.225	0.15325	Ion transport (1);	17.326200	0.00166	N	0.000001	D	0.95169	0.8434	M	0.86178	2.8	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.80167	-0.1495	10	0.56958	D	0.05	.	5.9124	0.19035	1.0E-4:0.0:0.9999:0.0	.	738	Q9UI33	SCNBA_HUMAN	T	738	ENSP00000307599:P738T;ENSP00000400945:P738T;ENSP00000416757:P738T;ENSP00000408028:P738T	ENSP00000307599:P738T	P	-	1	0	0	SCN11A	38913531	38913531	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-4.182000	0.00278	0.300000	0.22699	0.305000	0.20034	CCG		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		48.057952	3	3	48	48	NM_014139		17	48.95908	48.959080	31	0.354167	1	0	2.4624e-09	1	2.4624e-09	17	31	0.354167
BRINP3	339479	broad.mit.edu	37	1	190067401	190067401	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr1:190067401A>G	ENST00000367462.3	-	8	2279	c.2048T>C	c.(2047-2049)cTg>cCg	p.L683P	BRINP3_ENST00000534846.1_Missense_Mutation_p.L581P	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	683					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CTGCAAAATCAGGTCCCGAAT	0.458																																						ENST00000367462.3											0										c.(2047-2049)cTg>cCg	bone morphogenetic protein/retinoic acid inducible neural-specific 3						109.0	108.0	109.0					1																	190067401		2203	4300	6503	SO:0001583	missense	339479						g.chr1:190067401A>G	AB111893	AB111893	CCDS1373.1	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670	ENSG00000162670	ENSG00000162670				22393	22393	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""family with sequence similarity 5, member C"""	FAM5C	"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	16018821, 15193423	Standard	Standard	NM_199051	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	uc001gse.1	Q76B58	Q76B58	OTTHUMG00000035533	OTTHUMG00000035533	ENST00000367462.3:c.2048T>C	1.37:g.190067401A>G	ENSP00000356432:p.Leu683Pro		BRINP3_ENST00000534846.1_Missense_Mutation_p.L581P	p.L683P	NM_199051.1	NP_950252.1					8	2279	-			683		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2048T>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521122	0.44866	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21734	2.24;1.99	5.62	4.48	0.54585	5.62	4.48	0.54585	.	0.082989	0.49916	D	0.000129	T	0.29321	0.0730	M	0.70275	2.135	0.80722	D	1	P;P	0.41848	0.763;0.651	P;B	0.44359	0.447;0.174	T	0.02721	-1.1119	10	0.49607	T	0.09	.	10.9682	0.47424	0.8428:0.1572:0.0:0.0	.	581;683	B7Z260;Q76B58	.;FAM5C_HUMAN	P	683;581	ENSP00000356432:L683P;ENSP00000438022:L581P	ENSP00000356432:L683P	L	-	2	0	0	FAM5C	188334024	188334024	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.237000	0.95368	0.932000	0.37266	0.528000	0.53228	CTG		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1		-8.765922	-5	-5	93	93	NM_199051		4	7.044462	7.044462	71	0.053333	0	0	0	1	0	4	71	0.053333
TRPM7	54822	broad.mit.edu	37	15	50866914	50866914	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr15:50866914T>A	ENST00000313478.7	-	35	5303	c.5022A>T	c.(5020-5022)gaA>gaT	p.E1674D	TRPM7_ENST00000560955.1_Missense_Mutation_p.E1673D|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1674	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTTGTTGAATTTCCTATAAAA	0.303																																						ENST00000313478.7											0			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(5020-5022)gaA>gaT	transient receptor potential cation channel, subfamily M, member 7						126.0	120.0	122.0					15																	50866914		1810	4071	5881	SO:0001583	missense	54822			cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50866914T>A	AF346629	AF346629	CCDS42035.1, CCDS73725.1	CCDS42035.1, CCDS73725.1	15q21	2011-12-14			2011-12-14				ENSG00000092439		ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	17994	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605692	605692						11161216, 11385574, 16382100	11161216, 11385574, 16382100	Standard	Standard	XM_005254486	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	uc001zyt.4	Q96QT4	Q96QT4			ENST00000313478.7:c.5022A>T	15.37:g.50866914T>A	ENSP00000320239:p.Glu1674Asp		TRPM7_ENST00000560955.1_Missense_Mutation_p.E1673D|TRPM7_ENST00000561443.1_5'UTR	p.E1674D	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	35	5303	-			1674	Alpha-type protein kinase.	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.5022A>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472146	0.84533	.	.	ENSG00000092439	ENST00000313478	T	0.06371	3.31	5.25	5.25	0.73442	5.25	5.25	0.73442	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	L	0.36672	1.1	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.00657	-1.1623	10	0.87932	D	0	-26.0928	15.3214	0.74124	0.0:0.0:0.0:1.0	.	1674	Q96QT4	TRPM7_HUMAN	D	1674	ENSP00000320239:E1674D	ENSP00000320239:E1674D	E	-	3	2	2	TRPM7	48654206	48654206	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.362000	0.52314	2.191000	0.70037	0.528000	0.53228	GAA		0.303	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1		64.602695	1	1	90	90	NM_017672		23	66.299791	66.299791	46	0.333333	0	0	0	1	0	23	46	0.333333
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	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	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	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	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	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	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	0	GNA11	3069942	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		71.362376	-3	-3	78	78	NM_002067		25	71.948661	71.948661	38	0.396825	0	0	0	1	0	25	38	0.396825
MAGED1	9500	broad.mit.edu	37	X	51640905	51640905	+	Silent	SNP	A	A	G			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chrX:51640905A>G	ENST00000375722.1	+	7	1833	c.1581A>G	c.(1579-1581)caA>caG	p.Q527Q	MAGED1_ENST00000375772.3_Silent_p.Q527Q|MAGED1_ENST00000375695.2_Silent_p.Q583Q|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.Q527Q			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	527	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TTGGGATTCAACTGAAAGAAA	0.443										Multiple Myeloma(10;0.10)																												ENST00000375695.2											0			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1747-1749)caA>caG	melanoma antigen family D, 1						52.0	46.0	48.0					X																	51640905		2203	4299	6502	SO:0001819	synonymous_variant	9500			apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51640905A>G	AF124440	AF124440	CCDS14337.1, CCDS35279.1	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			2008-08-01			ENSG00000179222	ENSG00000179222	ENSG00000179222	ENSG00000179222				6813	6813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300224	300224						10409427	10409427	Standard	Standard	NM_006986	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	uc004dpn.3	Q9Y5V3	Q9Y5V3	OTTHUMG00000021540	OTTHUMG00000021540	ENST00000375722.1:c.1581A>G	X.37:g.51640905A>G			MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.Q527Q|MAGED1_ENST00000375772.3_Silent_p.Q527Q|MAGED1_ENST00000326587.7_Silent_p.Q527Q	p.Q583Q	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			8	1902	+	Ovarian(276;0.236)		527	MAGE.	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	c.1749A>G	CCDS14337.1																																																																																									0.443	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1		29.371404	-8	-8	23	23	NM_001005332		9	29.530145	29.530145	13	0.409091	0	0	0	1	0	9	13	0.409091
ITGA8	8516	broad.mit.edu	37	10	15701035	15701035	+	Missense_Mutation	SNP	G	G	A	rs148965352		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr10:15701035G>A	ENST00000378076.3	-	10	1264	c.911C>T	c.(910-912)aCg>aTg	p.T304M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	304				T -> Y (in Ref. 5; AAA93514). {ECO:0000305}.	brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGTCATATCCGTAGAGTTAAT	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		16733	0.0		0.001	False		,,,				2504	0.0					ENST00000378076.3											0			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(910-912)aCg>aTg	integrin, alpha 8	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	52.0	54.0	53.0		911	5.6	1.0	10	dbSNP_134	53	12,8584	9.1+/-34.3	0,12,4286	yes	missense	ITGA8	NM_003638.1	81	0,14,6487	AA,AG,GG		0.1396,0.0454,0.1077	probably-damaging	304/1064	15701035	14,12988	2203	4298	6501	SO:0001583	missense	8516			cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15701035G>A	L36531	L36531	CCDS31155.1	CCDS31155.1	10p13	2010-03-23			2010-03-23			ENSG00000077943	ENSG00000077943	ENSG00000077943	ENSG00000077943		"""Integrins"""	"""Integrins"""	6144	6144	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604063	604063						7768999	7768999	Standard	Standard	XM_005252633	XM_005252633		Approved		uc001ioc.1	uc001ioc.1	P53708	P53708	OTTHUMG00000017733	OTTHUMG00000017733	ENST00000378076.3:c.911C>T	10.37:g.15701035G>A	ENSP00000367316:p.Thr304Met			p.T304M	NM_003638.1	NP_003629	P53708	ITA8_HUMAN			10	1264	-			304		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.911C>T	CCDS31155.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.50	3.839816	0.71488	4.54E-4	0.001396	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.24350	1.86	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.139474	0.64402	D	0.000005	T	0.45756	0.1358	L	0.55834	1.745	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;P	0.67103	0.949;0.891	T	0.22626	-1.0211	10	0.49607	T	0.09	.	16.2993	0.82801	0.0:0.0:1.0:0.0	.	289;304	F5H818;P53708	.;ITA8_HUMAN	M	304;289	ENSP00000367316:T304M	ENSP00000367316:T304M	T	-	2	0	0	ITGA8	15741041	15741041	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.825000	0.75293	2.634000	0.89283	0.563000	0.77884	ACG		0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1		-2.210950	10	10	89	89	NM_003638		3	6.547389	6.547389	42	0.066667	0	0	0	1	0	3	42	0.066667
NBEAL2	23218	broad.mit.edu	37	3	47033435	47033435	+	Splice_Site	SNP	A	A	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:47033435A>T	ENST00000450053.3	+	9	1210	c.1031A>T	c.(1030-1032)aAg>aTg	p.K344M	NBEAL2_ENST00000292309.5_Splice_Site_p.K344M|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	344					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGAACAGCAAGGTGGGTAGG	0.592																																						ENST00000450053.3											0			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1030-1032)aAg>aTg	neurobeachin-like 2						42.0	40.0	40.0					3																	47033435		2052	4202	6254	SO:0001630	splice_region_variant	23218					binding	g.chr3:47033435A>T	AB011112	AB011112	CCDS46817.1	CCDS46817.1	3p21.31	2014-09-17			2014-09-17			ENSG00000160796	ENSG00000160796	ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	"""WD repeat domain containing"""	31928	31928	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614169	614169								Standard	Standard	NM_015175	NM_015175		Approved	KIAA0540	uc003cqp.3	uc003cqp.3	Q6ZNJ1	Q6ZNJ1	OTTHUMG00000156497	OTTHUMG00000156497	ENST00000450053.3:c.1032+1A>T	3.37:g.47033435A>T			NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K344M	p.K344M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	9	1210	+		Acute lymphoblastic leukemia(5;0.0534)	344		O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	37	c.1031A>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506466	0.85282	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.61980	0.06;0.06	4.13	4.13	0.48395	4.13	4.13	0.48395	Armadillo-type fold (1);	.	.	.	.	T	0.74816	0.3766	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.69479	0.964;0.733	T	0.78135	-0.2322	9	0.87932	D	0	.	12.4731	0.55797	1.0:0.0:0.0:0.0	.	337;344	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	M	344;344;337	ENSP00000292309:K344M;ENSP00000415034:K344M	ENSP00000292309:K344M	K	+	2	0	0	NBEAL2	47008439	47008439	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.894000	0.75655	1.723000	0.51488	0.379000	0.24179	AAG		0.592	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		12.499512	-7	-7	13	13	XM_291064	Missense_Mutation	4	12.499512	12.499512	4	0.500000	0	0	0	1	0	4	4	0.5
PCGF2	7703	broad.mit.edu	37	17	36891521	36891521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr17:36891521delC	ENST00000580830.1	-	12	1691	c.990delG	c.(988-990)gggfs	p.G330fs	PCGF2_ENST00000585100.1_3'UTR|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR|PCGF2_ENST00000360797.2_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000581345.1_Frame_Shift_Del_p.G330fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	330	Pro/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCATCTTGCGCCCCCTGCTGG	0.627											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000580830.1											0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(988-990)gggfs	polycomb group ring finger 2						17.0	10.0	13.0					17																	36891521		2167	4257	6424	SO:0001589	frameshift_variant	7703			negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36891521delC	D13969	D13969	CCDS32638.1	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	12929	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600346	600346	"""ring finger protein 110"""	ZNF144, RNF110	"""ring finger protein 110"""	ZNF144, RNF110		8325509	8325509	Standard	Standard	NM_007144	NM_007144		Approved	MEL-18	uc002hqp.1	uc002hqp.1	P35227	P35227			ENST00000580830.1:c.990delG	17.37:g.36891521delC	ENSP00000461961:p.Gly330fs	866	PCGF2_ENST00000581345.1_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000585100.1_3'UTR|PCGF2_ENST00000360797.2_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR	p.G330fs			P35227	PCGF2_HUMAN			12	1691	-	Breast(7;9.07e-22)		330	Pro/Ser-rich.	A6NGD8	Frame_Shift_Del	DEL	ENST00000580830.1	37	c.990delG	CCDS32638.1																																																																																									0.627	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	.	.	4	4	6	6	NM_007144		2			4	0.33						2	4	0.33
PPP1R15A	23645	broad.mit.edu	37	19	49377681	49377682	+	Frame_Shift_Ins	INS	-	-	G			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr19:49377681_49377682insG	ENST00000200453.5	+	2	1460_1461	c.1191_1192insG	c.(1192-1194)gagfs	p.E398fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	398	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GAGAGGACACAGAGGAGGAGGA	0.53																																						ENST00000200453.5											0			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1192-1194)gagfs	protein phosphatase 1, regulatory subunit 15A																																			SO:0001589	frameshift_variant	23645			apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377681_49377682insG	U83981	U83981	CCDS12738.1	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074	ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	14375	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	"""growth arrest and DNA-damage-inducible 34"""	611048	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""		"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	9153226, 9413226	Standard	Standard	NM_014330	NM_014330		Approved	GADD34	uc002pky.4	uc002pky.4	O75807	O75807			ENST00000200453.5:c.1192dupG	19.37:g.49377682_49377682dupG	ENSP00000200453:p.Glu398fs			p.E398fs	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1460_1461	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	398	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.	B4DKQ3|Q6IA96|Q9NVU6	Frame_Shift_Ins	INS	ENST00000200453.5	37	c.1191_1192insG	CCDS12738.1																																																																																									0.530	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	.	.	6	6	130	130	NM_014330		38			54	0.41						38	54	0.41
PTPRG	5793	broad.mit.edu	37	3	61548042	61548054	+	Splice_Site	DEL	CCCCGGTGAGTGC	CCCCGGTGAGTGC	-	rs201903648|rs2365955	byFrequency	TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:61548042_61548054delCCCCGGTGAGTGC	ENST00000474889.1	+	1	458_462	c.81_85delCCCCGGTGAGTGC	c.(79-87)ttccccggt>ttgt	p.FPG27fs	PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Splice_Site_p.FPG27fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	27					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCGTGTGCTTCCCCGGTGAGTGCCGGCCGCCGA	0.648																																						ENST00000474889.1											1	Unknown(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(79-87)ttccccggt>ttgt	protein tyrosine phosphatase, receptor type, G																																			SO:0001630	splice_region_variant	5793			transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61548042_61548054delCCCCGGTGAGTGC	L09247	L09247	CCDS2895.1	CCDS2895.1	3p21-p14	2013-02-11			2013-02-11			ENSG00000144724	ENSG00000144724	ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	9671	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176886	176886		PTPG		PTPG		1711217	1711217	Standard	Standard	NM_002841	NM_002841		Approved	RPTPG	uc003dlb.3	uc003dlb.3	P23470	P23470	OTTHUMG00000158660	OTTHUMG00000158660	ENST00000474889.1:c.85+1CCCCGGTGAGTGC>-	3.37:g.61548042_61548054delCCCCGGTGAGTGC			PTPRG_ENST00000295874.10_Splice_Site_p.FPG27fs|PTPRG_ENST00000495879.1_3'UTR	p.FPG27fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	1	458_462	+			27		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Splice_Site	DEL	ENST00000474889.1	37	c.81_85delCCCCGGTGAGTGC	CCDS2895.1																																																																																									0.648	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	.	.	-14	-14	179	179	NM_002841	Frame_Shift_Del	11			144	0.07						11	144	0.07
LZTS3	9762	broad.mit.edu	37	20	3145615	3145615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr20:3145615delC	ENST00000329152.3	-	3	2904	c.1507delG	c.(1507-1509)gccfs	p.A503fs	LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A457fs|LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A457fs			O60299	LZTS3_HUMAN		503						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TCCAGGCTGGCCTGCTTGCTG	0.716																																						ENST00000329152.3											0										c.(1507-1509)gccfs							6.0	6.0	6.0					20																	3145615		2119	4145	6264	SO:0001589	frameshift_variant	0						g.chr20:3145615delC																																																	ENST00000329152.3:c.1507delG	20.37:g.3145615delC	ENSP00000332123:p.Ala503fs		LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A457fs|LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A457fs	p.A503fs							3	2904	-					A2A2Q7|D3DVX6|Q8IXX8	Frame_Shift_Del	DEL	ENST00000329152.3	37	c.1507delG	CCDS13049.1																																																																																									0.716	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2	.	.	-2	-2	6	6			2			4	0.33						2	4	0.33
