#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GOLT1A	127845	broad.mit.edu	37	1	204170816	204170816	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:204170816G>A	ENST00000308302.3	-	3	426	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	GOLT1A_ENST00000475517.1_5'UTR	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGGGGCCAGCGTAGGAGCACG	0.532																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(241-243)Cgc>Tgc		golgi transport 1A							140.0	148.0	145.0					1																	204170816		2203	4300	6503	SO:0001583	missense	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170816G>A	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.241C>T	1.37:g.204170816G>A	ENSP00000308535:p.Arg81Cys					GOLT1A_ENST00000475517.1_5'UTR	p.R81C	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	426	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		81						Missense_Mutation	SNP	ENST00000308302.3	37	c.241C>T	CCDS1443.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949868	0.73787	.	.	ENSG00000174567	ENST00000308302	.	.	.	5.48	5.48	0.80851	.	0.096565	0.46758	D	0.000279	T	0.79046	0.4380	M	0.89214	3.015	0.58432	D	0.999996	D	0.69078	0.997	P	0.58820	0.846	T	0.83041	-0.0157	9	0.72032	D	0.01	-21.914	13.6306	0.62193	0.0:0.1555:0.8445:0.0	.	81	Q6ZVE7	GOT1A_HUMAN	C	81	.	ENSP00000308535:R81C	R	-	1	0	GOLT1A	202437439	0.994000	0.37717	1.000000	0.80357	0.919000	0.55068	0.897000	0.28390	2.571000	0.86741	0.650000	0.86243	CGC		0.532	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		6	141	0	0	0	1	0	6	141				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			4	121	0	0	0	1	0	4	121				
TXNDC16	57544	broad.mit.edu	37	14	52936858	52936858	+	Silent	SNP	C	C	G	rs576864053		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr14:52936858C>G	ENST00000281741.4	-	16	1886	c.1515G>C	c.(1513-1515)tcG>tcC	p.S505S	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	505					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTCTTGGATCGATGTTATAT	0.289																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1513-1515)tcG>tcC		thioredoxin domain containing 16							82.0	81.0	81.0					14																	52936858		2203	4298	6501	SO:0001819	synonymous_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52936858C>G	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1515G>C	14.37:g.52936858C>G						TXNDC16_ENST00000554399.1_Intron	p.S505S	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			16	1886	-	Breast(41;0.0716)		505					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	c.1515G>C	CCDS32083.1																																																																																				0.289	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		5	40	0	0	0	1	0	5	40				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092234	29092234	+	RNA	SNP	C	C	A	rs150917533		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr15:29092234C>A	ENST00000569815.1	-	0	281					NR_047567.1				golgin A6 family-like 7, pseudogene																		GGCAGCCCCCCGAAGTGGTTG	0.542																																						ENST00000569815.1																			0																																																			0							g.chr15:29092234C>A	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092234C>A								NR_047567.1						0	281	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.542	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		4	18	1	0	1.58986e-06	1	1.90784e-06	4	18				
SH2B3	10019	broad.mit.edu	37	12	111885274	111885274	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:111885274G>A	ENST00000341259.2	+	6	1519	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	388	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TGCTCATGGAGTGTTCCTGGT	0.612																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1162-1164)Gtg>Atg		SH2B adaptor protein 3							65.0	70.0	69.0					12																	111885274		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885274G>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1162G>A	12.37:g.111885274G>A	ENSP00000345492:p.Val388Met					SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	p.V388M	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			6	1519	+			388			SH2.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1162G>A	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798827	0.70567	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.69685	-0.42;-0.42	5.0	5.0	0.66597	SH2 motif (5);	0.119548	0.56097	D	0.000027	T	0.80417	0.4619	M	0.66939	2.045	0.46478	D	0.999069	D;D;D	0.60575	0.988;0.978;0.976	P;P;D	0.67548	0.709;0.808;0.952	T	0.82067	-0.0641	10	0.62326	D	0.03	-4.3116	18.6561	0.91455	0.0:0.0:1.0:0.0	.	186;252;388	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	M	388;198;186	ENSP00000345492:V388M;ENSP00000440597:V186M	ENSP00000345492:V388M	V	+	1	0	SH2B3	110369657	1.000000	0.71417	0.954000	0.39281	0.945000	0.59286	3.673000	0.54591	2.482000	0.83794	0.462000	0.41574	GTG		0.612	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		31	126	0	0	0	1	0	31	126				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	108	0	0	0	1	0	5	108				
SLFN11	91607	broad.mit.edu	37	17	33679579	33679579	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:33679579C>A	ENST00000394566.1	-	7	2774	c.2502G>T	c.(2500-2502)agG>agT	p.R834S	SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	834					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACCACCCTTTTCTTCC	0.473																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2500-2502)agG>agT		schlafen family member 11							235.0	202.0	213.0					17																	33679579		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679579C>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2502G>T	17.37:g.33679579C>A	ENSP00000378067:p.Arg834Ser					SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S	p.R834S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2774	-		Ovarian(249;0.17)	834					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2502G>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	8.587	0.883740	0.17467	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.01998	4.51;4.51	3.91	0.256	0.15567	.	0.485335	0.17203	N	0.183048	T	0.01976	0.0062	L	0.52905	1.665	0.09310	N	1	B	0.31227	0.314	B	0.29716	0.106	T	0.45702	-0.9243	10	0.11182	T	0.66	.	2.9258	0.05784	0.2069:0.5168:0.0:0.2763	.	834	Q7Z7L1	SLN11_HUMAN	S	834	ENSP00000312402:R834S;ENSP00000378067:R834S	ENSP00000312402:R834S	R	-	3	2	SLFN11	30703692	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.697000	0.01910	-0.030000	0.13804	-0.140000	0.14226	AGG		0.473	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	134	1	0	8.12818e-05	1	9.48288e-05	7	134				
DNAJC22	79962	broad.mit.edu	37	12	49743299	49743299	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:49743299T>C	ENST00000549441.2	+	3	1848	c.644T>C	c.(643-645)tTt>tCt	p.F215S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	215						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GCAGAAACCTTTGGCTCCTTC	0.552																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(643-645)tTt>tCt		DnaJ (Hsp40) homolog, subfamily C, member 22							168.0	163.0	165.0					12																	49743299		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49743299T>C	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.644T>C	12.37:g.49743299T>C	ENSP00000446830:p.Phe215Ser					DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S	p.F215S			Q8N4W6	DJC22_HUMAN			3	1848	+			215					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.644T>C	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.877050	0.51801	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.40756	1.02;1.02	4.8	4.8	0.61643	.	0.495326	0.22424	N	0.060241	T	0.26268	0.0641	N	0.08118	0	0.23528	N	0.997485	B	0.15473	0.013	B	0.16722	0.016	T	0.29336	-1.0015	10	0.87932	D	0	-1.284	13.6291	0.62186	0.0:0.0:0.0:1.0	.	215	Q8N4W6	DJC22_HUMAN	S	215	ENSP00000446830:F215S;ENSP00000378508:F215S	ENSP00000378508:F215S	F	+	2	0	DNAJC22	48029566	0.849000	0.29639	0.978000	0.43139	0.932000	0.56968	5.109000	0.64615	1.914000	0.55421	0.459000	0.35465	TTT		0.552	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		5	184	0	0	0	1	0	5	184				
NPHS2	7827	broad.mit.edu	37	1	179526351	179526351	+	Silent	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:179526351G>A	ENST00000367615.4	-	5	617	c.549C>T	c.(547-549)gaC>gaT	p.D183D	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	183			D -> Y (in NPHS2). {ECO:0000269|PubMed:24227627}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTATAAACATGTCTTTGGTCA	0.418																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(547-549)gaC>gaT		nephrosis 2, idiopathic, steroid-resistant (podocin)							108.0	98.0	101.0					1																	179526351		2203	4300	6503	SO:0001819	synonymous_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179526351G>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.549C>T	1.37:g.179526351G>A						NPHS2_ENST00000367616.4_Intron	p.D183D	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			5	617	-			183					B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	c.549C>T	CCDS1331.1																																																																																				0.418	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			12	35	0	0	0	1	0	12	35				
MMP16	4325	broad.mit.edu	37	8	89128918	89128918	+	Silent	SNP	T	T	G			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr8:89128918T>G	ENST00000286614.6	-	6	1182	c.901A>C	c.(901-903)Aga>Cga	p.R301R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	301					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R301*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGTAGAGGTCTTGTAGGTGGA	0.512																																						ENST00000286614.6																			1	Substitution - Nonsense(1)	p.R301*(1)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(901-903)Aga>Cga		matrix metallopeptidase 16 (membrane-inserted)							198.0	205.0	202.0					8																	89128918		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128918T>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.901A>C	8.37:g.89128918T>G						MMP16_ENST00000544227.1_5'UTR	p.R301R	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			6	1182	-			301					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.901A>C	CCDS6246.1																																																																																				0.512	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		6	167	0	0	0	1	0	6	167				
GPR132	29933	broad.mit.edu	37	14	105518068	105518068	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr14:105518068T>A	ENST00000329797.3	-	4	1317	c.406A>T	c.(406-408)Atc>Ttc	p.I136F	GPR132_ENST00000392585.2_Missense_Mutation_p.I127F|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	136					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGGAGATGCAGCACAGG	0.642																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(406-408)Atc>Ttc		G protein-coupled receptor 132							140.0	121.0	127.0					14																	105518068		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518068T>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.406A>T	14.37:g.105518068T>A	ENSP00000328818:p.Ile136Phe					GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F|GPR132_ENST00000392585.2_Missense_Mutation_p.I127F	p.I136F	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1317	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	136					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.406A>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269751	0.80469	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.81247	-1.47;-1.47;-1.47	4.83	-0.343	0.12632	GPCR, rhodopsin-like superfamily (1);	0.069306	0.64402	D	0.000015	D	0.89305	0.6677	M	0.92555	3.32	0.53005	D	0.999961	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.86552	0.1835	10	0.62326	D	0.03	.	8.3448	0.32266	0.0:0.3654:0.0:0.6346	.	127;136	B4E144;Q9UNW8	.;GP132_HUMAN	F	136;127;136	ENSP00000328818:I136F;ENSP00000376364:I127F;ENSP00000438094:I136F	ENSP00000328818:I136F	I	-	1	0	GPR132	104589113	0.835000	0.29415	0.981000	0.43875	0.967000	0.64934	-0.103000	0.10940	-0.336000	0.08438	-0.521000	0.04368	ATC		0.642	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		21	166	0	0	0	1	0	21	166				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862665	10862665	+	RNA	SNP	C	C	T	rs376398232	byFrequency	TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr21:10862665C>T	ENST00000559480.1	+	0	44							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCATAGCTGCGGGTAGGATA	0.522													.|||	2	0.000399361	0.0008	0.0	5008	,	,		37622	0.0		0.001	False		,,,				2504	0.0					ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26										C		1,3909		0,1,1954	341.0	323.0	329.0			0.5	0.0	21		329	2,8306		0,2,4152	no	intergenic				0,3,6106	TT,TC,CC		0.0241,0.0256,0.0246			10862665	3,12215	1955	4154	6109			0							g.chr21:10862665C>T			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862665C>T														0	44	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.522	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		25	378	0	0	0	1	0	25	378				
GIGYF2	26058	broad.mit.edu	37	2	233671240	233671240	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:233671240C>T	ENST00000409547.1	+	17	1990	c.1679C>T	c.(1678-1680)gCg>gTg	p.A560V	GIGYF2_ENST00000409196.3_Missense_Mutation_p.A554V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A582V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A391V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A581V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A560V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.A582V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	560	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.|Required for GRB10-binding. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGGTTTCAGGCGGGCTATTTT	0.403																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1744-1746)gCg>gTg		GRB10 interacting GYF protein 2							188.0	184.0	185.0					2																	233671240		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233671240C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1679C>T	2.37:g.233671240C>T	ENSP00000386537:p.Ala560Val					GIGYF2_ENST00000409480.1_Missense_Mutation_p.A582V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.A560V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A581V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A554V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A560V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A391V	p.A582V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	16	1942	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	560					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1745C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507136	0.96386	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.81330	-1.35;-1.34;-1.35;-1.34;-1.48;-1.32;-1.35;-1.46;-1.25	5.84	5.84	0.93424	GYF (4);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.993	D	0.92422	0.5946	10	0.72032	D	0.01	-12.8345	20.1551	0.98106	0.0:1.0:0.0:0.0	.	391;581;560;554	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	582;503;560;582;560;560;503;554;581;554;391	ENSP00000362667:A582V;ENSP00000362664:A560V;ENSP00000386765:A582V;ENSP00000386537:A560V;ENSP00000404195:A503V;ENSP00000387070:A554V;ENSP00000387170:A581V;ENSP00000410297:A554V;ENSP00000411505:A391V	ENSP00000362664:A560V	A	+	2	0	GIGYF2	233379484	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.770000	0.85390	2.760000	0.94817	0.655000	0.94253	GCG		0.403	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	142	0	0	0	1	0	4	142				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	22	0	0	0	1	0	3	22				
ANKRD26	22852	broad.mit.edu	37	10	27381415	27381415	+	Silent	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr10:27381415T>A	ENST00000376087.4	-	4	723	c.558A>T	c.(556-558)gcA>gcT	p.A186A	ANKRD26_ENST00000436985.2_Silent_p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	186					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCCACTTACTGCAAGTAAAA	0.338																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(556-558)gcA>gcT		ankyrin repeat domain 26							85.0	81.0	82.0					10																	27381415		1810	4072	5882	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27381415T>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.558A>T	10.37:g.27381415T>A						ANKRD26_ENST00000436985.2_Silent_p.A186A	p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			4	723	-			186					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.558A>T	CCDS41499.1																																																																																				0.338	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	30	0	0	0	1	0	7	30				
CNTN6	27255	broad.mit.edu	37	3	1394066	1394066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr3:1394066G>T	ENST00000446702.2	+	12	2050	c.1423G>T	c.(1423-1425)Gga>Tga	p.G475*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*			Q9UQ52	CNTN6_HUMAN	contactin 6	475	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCAGATGCTGGATCATATAC	0.358																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1423-1425)Gga>Tga		contactin 6							101.0	94.0	97.0					3																	1394066		2203	4300	6503	SO:0001587	stop_gained	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1394066G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1423G>T	3.37:g.1394066G>T	ENSP00000407822:p.Gly475*					CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*	p.G475*			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	12	2050	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	475			Ig-like C2-type 5.		Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	37	c.1423G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	45	11.470596	0.99565	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.32	0.90234	0.0:0.0:1.0:0.0	.	.	.	.	X	475;403;475	.	ENSP00000341882:G475X	G	+	1	0	CNTN6	1369066	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	6.358000	0.73055	2.843000	0.97960	0.585000	0.79938	GGA		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		6	38	1	0	0.00116845	1	0.00129144	6	38				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	21	0	0	0	1	0	4	21				
RYR2	6262	broad.mit.edu	37	1	237608788	237608788	+	Missense_Mutation	SNP	C	C	T	rs190140598		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:237608788C>T	ENST00000366574.2	+	14	1575	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	RYR2_ENST00000542537.1_Missense_Mutation_p.R404W|RYR2_ENST00000360064.6_Missense_Mutation_p.R418W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	420			R -> W (in CPVT1; dbSNP:rs190140598). {ECO:0000269|PubMed:12106942, ECO:0000269|PubMed:15544015}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGAGTTATCCGGAGCACAGT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		18259	0.0		0.001	False		,,,				2504	0.0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	GRCh37	CM023669	RYR2	M	rs190140598	c.(1258-1260)Cgg>Tgg		ryanodine receptor 2 (cardiac)							143.0	138.0	140.0					1																	237608788		1891	4118	6009	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237608788C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1258C>T	1.37:g.237608788C>T	ENSP00000355533:p.Arg420Trp					RYR2_ENST00000542537.1_Missense_Mutation_p.R404W|RYR2_ENST00000360064.6_Missense_Mutation_p.R418W	p.R420W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		14	1575	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	420		R -> W (in CPVT1).			Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1258C>T	CCDS55691.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.31	3.595313	0.66219	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97232	-4.3;-4.28;-4.3	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000007	D	0.97763	0.9266	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	P	0.61874	0.895	D	0.97862	1.0281	10	0.87932	D	0	.	13.3556	0.60625	0.0:0.9281:0.0:0.0719	.	420	Q92736	RYR2_HUMAN	W	420;418;404	ENSP00000355533:R420W;ENSP00000353174:R418W;ENSP00000443798:R404W	ENSP00000353174:R418W	R	+	1	2	RYR2	235675411	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	4.033000	0.57282	2.751000	0.94390	0.591000	0.81541	CGG		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	39	0	0	0	1	0	13	39				
LIMD2	80774	broad.mit.edu	37	17	61776290	61776290	+	Silent	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:61776290G>A	ENST00000259006.3	-	4	251	c.93C>T	c.(91-93)agC>agT	p.S31S	LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.S31S|LIMD2_ENST00000578402.1_Silent_p.S31S|LIMD2_ENST00000583211.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	31							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						GGGCCCGCAGGCTGAAGGACT	0.662																																						ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(91-93)agC>agT		LIM domain containing 2							52.0	54.0	53.0					17																	61776290		2203	4300	6503	SO:0001819	synonymous_variant	80774						zinc ion binding	g.chr17:61776290G>A	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.93C>T	17.37:g.61776290G>A						LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.S31S|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578402.1_Silent_p.S31S	p.S31S	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			4	251	-			31					D3DU16|Q96S91	Silent	SNP	ENST00000259006.3	37	c.93C>T	CCDS11641.1																																																																																				0.662	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		5	93	0	0	0	1	0	5	93				
OBSCN	84033	broad.mit.edu	37	1	228437915	228437915	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:228437915G>A	ENST00000422127.1	+	14	4327	c.4283G>A	c.(4282-4284)cGg>cAg	p.R1428Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.R1520Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1428	Ig-like 14.			R -> Q (in Ref. 1; CAC85749). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGCCAGCGGCTCTCCTTC	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4558-4560)cGg>cAg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							64.0	77.0	73.0					1																	228437915		2043	4179	6222	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437915G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4283G>A	1.37:g.228437915G>A	ENSP00000409493:p.Arg1428Gln					OBSCN_ENST00000422127.1_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366707.4_5'UTR	p.R1520Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4633	+		Prostate(94;0.0405)	498			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4559G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.152	0.396253	0.11638	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04809	3.55;3.55	5.2	-5.24	0.02789	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.302419	0.29280	N	0.012614	T	0.03136	0.0092	L	0.43701	1.375	0.47009	D	0.99928	P;P	0.38677	0.642;0.584	B;B	0.33750	0.169;0.071	T	0.44251	-0.9340	10	0.18710	T	0.47	.	9.6524	0.39906	0.4715:0.1001:0.4284:0.0	.	1428;1428	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1428	ENSP00000284548:R1428Q;ENSP00000409493:R1428Q	ENSP00000284548:R1428Q	R	+	2	0	OBSCN	226504538	0.998000	0.40836	0.432000	0.26747	0.000000	0.00434	1.359000	0.34113	-0.967000	0.03582	-2.048000	0.00412	CGG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	161	0	0	0	1	0	9	161				
MGAT5	4249	broad.mit.edu	37	2	135206227	135206227	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:135206227G>T	ENST00000409645.1	+	17	2287	c.2035G>T	c.(2035-2037)Gtg>Ttg	p.V679L	MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	679					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CAGGTACAAGGTGACCTGCCA	0.542																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(2035-2037)Gtg>Ttg		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							205.0	200.0	202.0					2																	135206227		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135206227G>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2035G>T	2.37:g.135206227G>T	ENSP00000386377:p.Val679Leu					MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L	p.V679L			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	17	2287	+			679					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.2035G>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907007	0.52333	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.09	5.09	0.68999	.	0.110693	0.64402	D	0.000012	T	0.52058	0.1711	L	0.44542	1.39	0.51482	D	0.999925	B	0.15141	0.012	B	0.18263	0.021	T	0.48031	-0.9070	9	0.33940	T	0.23	-17.3054	10.1754	0.42935	0.125:0.0:0.875:0.0	.	679	Q09328	MGT5A_HUMAN	L	679	.	ENSP00000281923:V679L	V	+	1	0	MGAT5	134922697	1.000000	0.71417	0.571000	0.28486	0.934000	0.57294	3.167000	0.50793	2.533000	0.85409	0.655000	0.94253	GTG		0.542	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		5	223	1	0	1.024e-07	1	1.26494e-07	5	223				
TUSC1	286319	broad.mit.edu	37	9	25678100	25678100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr9:25678100C>A	ENST00000358022.3	-	1	756	c.220G>T	c.(220-222)Gag>Tag	p.E74*		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	74										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		CGGATGGCCTCCAAGTGGCTC	0.761																																					Pancreas(19;648 672 25630 30820 31331)	ENST00000358022.3																			0				kidney(1)	1						c.(220-222)Gag>Tag		tumor suppressor candidate 1							8.0	8.0	8.0					9																	25678100		2082	4114	6196	SO:0001587	stop_gained	286319							g.chr9:25678100C>A	AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.220G>T	9.37:g.25678100C>A	ENSP00000350716:p.Glu74*						p.E74*	NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)	1	756	-	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)	74					A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Nonsense_Mutation	SNP	ENST00000358022.3	37	c.220G>T	CCDS34999.1	.	.	.	.	.	.	.	.	.	.	C	42	9.284158	0.99125	.	.	ENSG00000198680	ENST00000358022	.	.	.	3.77	3.77	0.43336	.	0.389211	0.18101	U	0.151682	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-8.2234	12.3287	0.55026	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000350716:E74X	E	-	1	0	TUSC1	25668100	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.786000	0.55431	1.632000	0.50472	0.462000	0.41574	GAG		0.761	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356351.1	NM_001004125		3	5	1	0	1	1	1	3	5				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	78	0	0	0	1	0	4	78				
ERBB2	2064	broad.mit.edu	37	17	37879658	37879658	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:37879658G>A	ENST00000269571.5	+	17	2192	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.R648Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	678	Nuclear localization signal.|Required for interaction with KPNB1 and EEA1.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ATCAAGCGACGGCAGCAGAAG	0.637		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(1942-1944)cGg>cAg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						110.0	103.0	105.0					17																	37879658		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37879658G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2033G>A	17.37:g.37879658G>A	ENSP00000269571:p.Arg678Gln	TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R678Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q	p.R648Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	19	2453	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	678					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.1943G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952183	0.73787	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.79141	-1.23;-1.24;-1.22;-1.24;-1.23	4.97	4.97	0.65823	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	T	0.68742	0.3034	L	0.41710	1.295	0.80722	D	1	P;B;P	0.39003	0.654;0.043;0.654	B;B;B	0.29524	0.103;0.02;0.103	T	0.73285	-0.4031	9	0.52906	T	0.07	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	402;663;678	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	648;663;402;678;648	ENSP00000385185:R648Q;ENSP00000446466:R663Q;ENSP00000404047:R402Q;ENSP00000269571:R678Q;ENSP00000443562:R648Q	ENSP00000269571:R678Q	R	+	2	0	ERBB2	35133184	1.000000	0.71417	0.980000	0.43619	0.888000	0.51559	6.363000	0.73082	2.317000	0.78254	0.561000	0.74099	CGG		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			39	76	0	0	0	1	0	39	76				
HECTD4	283450	broad.mit.edu	37	12	112632752	112632752	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:112632752G>A	ENST00000430131.2	-	55	8565	c.7420C>T	c.(7420-7422)Cgg>Tgg	p.R2474W	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W|HECTD4_ENST00000550722.1_Missense_Mutation_p.R2750W			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2474					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTAATGTCCCGGATGGCAGGG	0.577																																						ENST00000550722.1																			0											c.(8248-8250)Cgg>Tgg		HECT domain containing E3 ubiquitin protein ligase 4							64.0	69.0	68.0					12																	112632752		2129	4247	6376	SO:0001583	missense	283450							g.chr12:112632752G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7420C>T	12.37:g.112632752G>A	ENSP00000404379:p.Arg2474Trp					HECTD4_ENST00000430131.2_Missense_Mutation_p.R2474W|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W	p.R2750W	NM_001109662.3	NP_001103132.3					56	8643	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.8248C>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.878668	0.91740	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.48;0.49;0.48	5.58	3.69	0.42338	.	.	.	.	.	T	0.47284	0.1437	L	0.27053	0.805	0.50171	D	0.999855	D	0.61697	0.99	P	0.47744	0.556	T	0.51521	-0.8695	9	0.87932	D	0	.	14.7515	0.69530	0.0:0.0:0.7367:0.2633	.	2474	Q9Y4D8	K0614_HUMAN	W	2724;2474;2750	ENSP00000366783:R2724W;ENSP00000404379:R2474W;ENSP00000449784:R2750W	ENSP00000366783:R2724W	R	-	1	2	C12orf51	111117135	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.709000	0.54853	0.669000	0.31146	0.655000	0.94253	CGG		0.577	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	14	0	0	0	1	0	4	14				
PTPRF	5792	broad.mit.edu	37	1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	rs377569778	byFrequency	TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15712	0.0		0.0	False		,,,				2504	0.0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3520-3522)cGg>cAg		protein tyrosine phosphatase, receptor type, F		G	GLN/ARG,GLN/ARG	1,4363		0,1,2181	41.0	52.0	48.0		3521,3494	2.1	1.0	1		48	1,8519		0,1,4259	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	43,43	0,2,6440	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	1174/1908,1165/1899	44071948	2,12882	2182	4260	6442	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071948G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3521G>A	1.37:g.44071948G>A	ENSP00000353030:p.Arg1174Gln					PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000496447.1_3'UTR	p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1174					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3521G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.921439|2.921439	0.52653|0.52653	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.56275	.|0.47;0.5;0.47;0.5;2.43;4.11	5.2|5.2	2.08|2.08	0.27032|0.27032	.|.	.|0.281004	.|0.18882	.|N	.|0.128559	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.44542|0.44542	1.39|1.39	0.45415|0.45415	D|D	0.998395|0.998395	.|P;B;B;D;D	.|0.56521	.|0.782;0.051;0.218;0.976;0.963	.|B;B;B;B;B	.|0.41619	.|0.203;0.014;0.063;0.32;0.361	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.15952	.|T	.|0.53	.|.	7.092|7.092	0.25289|0.25289	0.0705:0.1205:0.6755:0.1334|0.0705:0.1205:0.6755:0.1334	.|.	.|819;522;740;1165;1174	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|Q	820|1174;1165;1174;1165;522;235	.|ENSP00000353030:R1174Q;ENSP00000398822:R1165Q;ENSP00000361491:R1174Q;ENSP00000361490:R1165Q;ENSP00000387885:R522Q;ENSP00000361484:R235Q	.|ENSP00000353030:R1174Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844535|43844535	0.983000|0.983000	0.35010|0.35010	0.985000|0.985000	0.45067|0.45067	0.858000|0.858000	0.48976|0.48976	0.421000|0.421000	0.21280|0.21280	0.684000|0.684000	0.31448|0.31448	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			5	156	0	0	0	1	0	5	156				
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T	rs370426022		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443																																						ENST00000369219.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.K476K(2)|p.K476N(1)	prostate(2)|endometrium(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)aaG>aaA		neuroblastoma breakpoint family, member 14							4.0	3.0	3.0					1																	148012531		897	1999	2896	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148012531C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1428G>A	1.37:g.148012531C>T							p.K476K			Q5TI25	NBPFE_HUMAN			12	1444	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.1428G>A		.	.	.	.	.	.	.	.	.	.	-	0.191	-1.053181	0.01965	.	.	ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29027	-1.0025	2	.	.	.	.	.	.	.	.	.	.	.	N	482;487;487	.	.	S	-	2	0	NBPF14	146479155	0.938000	0.31826	0.000000	0.03702	0.000000	0.00434	-1.468000	0.02350	-1.826000	0.01205	-1.864000	0.00558	AGC		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		3	3	0	0	0	1	0	3	3				
ZNF428	126299	broad.mit.edu	37	19	44118391	44118391	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr19:44118391G>T	ENST00000300811.3	-	2	512	c.66C>A	c.(64-66)gaC>gaA	p.D22E	SRRM5_ENST00000417606.1_Missense_Mutation_p.R706S|SRRM5_ENST00000526798.1_Missense_Mutation_p.R721S|SRRM5_ENST00000607544.1_Missense_Mutation_p.R706S	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	22	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				CTGGGGAAAGGTCTTCATCAT	0.597																																						ENST00000526798.1																			0				endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						c.(2161-2163)agG>agT		serine/arginine repetitive matrix 5							112.0	81.0	91.0					19																	44118391		2203	4300	6503	SO:0001583	missense	100170229							g.chr19:44118391G>T	AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"""Zinc fingers, C2H2-type"""	20804	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 37"""	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.66C>A	19.37:g.44118391G>T	ENSP00000300811:p.Asp22Glu					SRRM5_ENST00000607544.1_Missense_Mutation_p.R706S|SRRM5_ENST00000417606.1_Missense_Mutation_p.R706S|ZNF428_ENST00000300811.3_Missense_Mutation_p.D22E	p.R721S			B3KS81	SRRM5_HUMAN			3	2440	+			706					O95054|Q6X3Y3	Missense_Mutation	SNP	ENST00000300811.3	37	c.2163G>T	CCDS12626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.25|17.25	3.342965|3.342965	0.61073|0.61073	.|.	.|.	ENSG00000131116|ENSG00000226763	ENST00000300811;ENST00000391964|ENST00000526798;ENST00000417606	.|.	.|.	.|.	5.14|5.14	2.92|2.92	0.33932|0.33932	.|.	0.121948|.	0.37393|.	N|.	0.002118|.	T|T	0.48822|0.48822	0.1521|0.1521	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	B|D	0.09022|0.71674	0.002|0.998	B|D	0.14578|0.68943	0.011|0.961	T|T	0.47573|0.47573	-0.9107|-0.9107	9|8	0.33940|0.48119	T|T	0.23|0.1	-23.0698|-23.0698	6.169|6.169	0.20406|0.20406	0.1019:0.2059:0.6922:0.0|0.1019:0.2059:0.6922:0.0	.|.	22|706	Q96B54|B3KS81	ZN428_HUMAN|SRRM5_HUMAN	E|S	22|721;706	.|.	ENSP00000300811:D22E|ENSP00000414512:R706S	D|R	-|+	3|3	2|2	ZNF428|SRRM5	48810231|48810231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.548000|0.548000	0.35241|0.35241	0.521000|0.521000	0.22893|0.22893	1.403000|1.403000	0.46800|0.46800	0.561000|0.561000	0.74099|0.74099	GAC|AGG		0.597	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		10	55	1	0	0.010729	1	0.0115543	10	55				
DIRAS3	9077	broad.mit.edu	37	1	68512452	68512452	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:68512452A>C	ENST00000370981.1	-	4	1165	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	177					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCTCCATGAAGGCGCAATTC	0.547																																						ENST00000370981.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(529-531)Ttc>Gtc		DIRAS family, GTP-binding RAS-like 3							120.0	118.0	118.0					1																	68512452		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512452A>C	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.529T>G	1.37:g.68512452A>C	ENSP00000360020:p.Phe177Val					GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V	p.F177V			O95661	DIRA3_HUMAN			4	1165	-			177					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.529T>G	CCDS641.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572546	0.86542	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	D;D	0.82619	-1.63;-1.63	4.66	4.66	0.58398	Small GTP-binding protein domain (1);	.	.	.	.	D	0.92519	0.7624	H	0.95574	3.69	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	D	0.94620	0.7812	9	0.87932	D	0	.	14.1477	0.65360	1.0:0.0:0.0:0.0	.	177	O95661	DIRA3_HUMAN	V	177	ENSP00000360020:F177V;ENSP00000378627:F177V	ENSP00000360020:F177V	F	-	1	0	DIRAS3	68285040	1.000000	0.71417	0.950000	0.38849	0.730000	0.41778	5.397000	0.66302	1.877000	0.54381	0.529000	0.55759	TTC		0.547	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		14	116	0	0	0	1	0	14	116				
BBOX1	8424	broad.mit.edu	37	11	27077078	27077078	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:27077078T>A	ENST00000529202.1	+	2	440	c.101T>A	c.(100-102)tTg>tAg	p.L34*	BBOX1_ENST00000263182.3_Nonsense_Mutation_p.L34*|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	34					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGTATGGTTGAGAGACAAC	0.473																																						ENST00000263182.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(100-102)tTg>tAg		butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	Succinic acid(DB00139)|Vitamin C(DB00126)						102.0	92.0	96.0					11																	27077078		2202	4299	6501	SO:0001587	stop_gained	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27077078T>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.101T>A	11.37:g.27077078T>A	ENSP00000435781:p.Leu34*					BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000529202.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*	p.L34*	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN			3	469	+			34					B2R8L7|D3DQZ1|Q6IBJ2	Nonsense_Mutation	SNP	ENST00000529202.1	37	c.101T>A	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	T	37	6.344172	0.97489	.	.	ENSG00000129151	ENST00000529202;ENST00000533566;ENST00000263182;ENST00000528583;ENST00000525090	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3465	0.66668	0.0:0.0:0.0:1.0	.	.	.	.	X	34	.	ENSP00000263182:L34X	L	+	2	0	BBOX1	27033654	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	5.876000	0.69667	2.265000	0.75225	0.482000	0.46254	TTG		0.473	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		15	50	0	0	0	1	0	15	50				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	105	0	0	0	1	0	5	105				
ADORA2A	135	broad.mit.edu	37	22	24837228	24837228	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr22:24837228G>A	ENST00000337539.7	+	3	1469	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	ADORA2A-AS1_ENST00000427813.2_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	337					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GTCAGCCTCCGTCTCAACGGC	0.662																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(1009-1011)cGt>cAt		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						32.0	26.0	28.0					22																	24837228		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24837228G>A	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.1010G>A	22.37:g.24837228G>A	ENSP00000336630:p.Arg337His					ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA	p.R337H	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			3	1469	+	Colorectal(2;0.196)		337					B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.1010G>A	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899475	0.72754	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.66280	-0.15;-0.2	4.95	3.93	0.45458	.	0.094039	0.37348	N	0.002127	T	0.57844	0.2081	M	0.63843	1.955	0.35271	D	0.78043	B	0.20988	0.05	B	0.15052	0.012	T	0.64097	-0.6487	10	0.39692	T	0.17	-31.5534	12.6837	0.56936	0.0803:0.0:0.9197:0.0	.	337	P29274	AA2AR_HUMAN	H	337	ENSP00000414802:R337H;ENSP00000336630:R337H	ENSP00000336630:R337H	R	+	2	0	ADORA2A	23167228	0.782000	0.28689	0.991000	0.47740	0.906000	0.53458	4.567000	0.60850	1.230000	0.43646	0.462000	0.41574	CGT		0.662	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		6	21	0	0	0	1	0	6	21				
RP11-431K24.1	0	broad.mit.edu	37	1	8117966	8117966	+	lincRNA	DEL	T	T	-			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:8117966delT	ENST00000445300.1	+	0	815																											GTGAGGTCCCTTTTGGGCTGG	0.498																																						ENST00000445300.1																			0																																																			0							g.chr1:8117966delT																													1.37:g.8117966delT														0	815	+									RNA	DEL	ENST00000445300.1	37																																																																																						0.498	RP11-431K24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000004926.1			7	3						7	3	---	---	---	---
ST8SIA4	7903	broad.mit.edu	37	5	100222192	100222193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr5:100222192_100222193insG	ENST00000231461.5	-	3	667_668	c.357_358insC	c.(355-360)aacattfs	p.I120fs	ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.I120fs|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	120					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATGAGAAATGTTTAGTGTCC	0.436																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(355-360)aatttcfs		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4																																				SO:0001589	frameshift_variant	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222192_100222193insG	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.358dupC	5.37:g.100222193_100222193dupG	ENSP00000231461:p.Ile120fs					ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.NF119fs|ST8SIA4_ENST00000507360.2_5'UTR	p.NF119fs	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	667_668	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	119					A8KA07|G3V104|Q8N1F4|Q92693	Frame_Shift_Ins	INS	ENST00000231461.5	37	c.357_358insC	CCDS4091.1																																																																																				0.436	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		29	130						29	130	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4843355	4843355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr7:4843355delG	ENST00000399583.3	-	11	2508	c.2321delC	c.(2320-2322)ccafs	p.P775fs	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.P535fs	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	775					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GACGATGGGTGGGGGGTTTTC	0.632																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2320-2322)cafs		Ras association and DIL domains				2,3840		0,2,1919	17.0	24.0	21.0			-3.7	1.0	7		21	1,7947		0,1,3973	no	frameshift	RADIL	NM_018059.4		0,3,5892	A1A1,A1R,RR		0.0126,0.0521,0.0254			4843355	3,11787	2029	4165	6194	SO:0001589	frameshift_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4843355delG	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2321delC	7.37:g.4843355delG	ENSP00000382492:p.Pro775fs					RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.P535fs	p.P775fs	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	11	2508	-		Ovarian(82;0.0175)	775					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Frame_Shift_Del	DEL	ENST00000399583.3	37	c.2321delC	CCDS43544.1																																																																																				0.632	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		2	4						2	4	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	727_728	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	8						4	8	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113683078	113683079	+	In_Frame_Ins	INS	-	-	GAA	rs142728209		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:113683078_113683079insGAA	ENST00000003302.4	-	16	1959_1960	c.1891_1892insTTC	c.(1891-1893)aga>aTTCga	p.630_631insI	USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insI|USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insI|USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insI	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	630	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATAGGAATCTCTTTCAACTTCT	0.416																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1891-1893)aga>TTCaga		ubiquitin specific peptidase 28																																				SO:0001652	inframe_insertion	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683078_113683079insGAA	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1891_1892insTTC	11.37:g.113683078_113683079insGAA	ENSP00000003302:p.Glu630_Arg631insIle					USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insF|USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insF|USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insF	p.630_631insF	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1959_1960	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	630					B0YJC0|B0YJC1|Q9P213	In_Frame_Ins	INS	ENST00000003302.4	37	c.1891_1892insTTC	CCDS31680.1																																																																																				0.416	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			7	100						7	100	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(688-693)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del					PRB1_ENST00000546254.1_Intron	p.NK230del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		8	600						8	600	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	9						4	9	---	---	---	---
