#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DPEP3	64180	broad.mit.edu	37	16	68014019	68014019	+	Missense_Mutation	SNP	G	G	A	rs376146876		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:68014019G>A	ENST00000268793.4	-	1	713	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	89					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGAAACTCCGCATCAGGGCC	0.652																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(340-342)Cgg>Tgg		dipeptidase 3		G	TRP/ARG,TRP/ARG	0,4396		0,0,2198	46.0	45.0	45.0		340,340	0.6	0.3	16		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DPEP3	NM_001129758.1,NM_022357.3	101,101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	114/513,114/514	68014019	1,12995	2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68014019G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.340C>T	16.37:g.68014019G>A	ENSP00000268793:p.Arg114Trp		Somatic				DPEP3_ENST00000574342.1_5'UTR	p.R114W	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	WXS	Illumina GAIIx	Phase_I	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	1	713	-		Ovarian(137;0.192)	89					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.340C>T	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900102	0.52227	0.0	1.16E-4	ENSG00000141096	ENST00000268793	T	0.23950	1.88	3.96	0.561	0.17285	.	1.076460	0.07198	N	0.856865	T	0.52386	0.1731	M	0.87456	2.885	0.23735	N	0.996987	D	0.76494	0.999	P	0.61658	0.892	T	0.44003	-0.9356	10	0.87932	D	0	.	10.9643	0.47403	0.0:0.0:0.5345:0.4655	.	89	Q9H4B8	DPEP3_HUMAN	W	114	ENSP00000268793:R114W	ENSP00000268793:R114W	R	-	1	2	DPEP3	66571520	0.735000	0.28153	0.289000	0.24876	0.007000	0.05969	0.666000	0.25097	0.109000	0.17891	-1.367000	0.01198	CGG		0.652	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		6	85	0	0	0	1	0	6	85				
UMODL1	89766	broad.mit.edu	37	21	43539224	43539224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr21:43539224C>T	ENST00000408910.2	+	15	2479	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	UMODL1_ENST00000400427.1_Missense_Mutation_p.R883W|UMODL1_ENST00000400424.2_Missense_Mutation_p.R755W|UMODL1_ENST00000408989.2_Missense_Mutation_p.R955W	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	827	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCGCAGGTGCGGGGCTCCCT	0.632																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2263-2265)Cgg>Tgg		uromodulin-like 1							76.0	81.0	79.0					21																	43539224		2099	4228	6327	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43539224C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2479C>T	21.37:g.43539224C>T	ENSP00000386147:p.Arg827Trp		Somatic				UMODL1_ENST00000400427.1_Missense_Mutation_p.R883W|UMODL1_ENST00000408989.2_Missense_Mutation_p.R955W|UMODL1_ENST00000408910.2_Missense_Mutation_p.R827W	p.R755W	NM_001199528.2	NP_001186457	WXS	Illumina GAIIx	Phase_I	Q5DID0	UROL1_HUMAN			15	2659	+						Fibronectin type-III 2.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2263C>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	5.434	0.265275	0.10294	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	3.62	0.624	0.17659	SEA (1);	0.386077	0.19045	N	0.124193	T	0.22627	0.0546	N	0.20986	0.625	0.34240	D	0.677572	B;B	0.29270	0.119;0.24	B;B	0.28784	0.025;0.094	T	0.19549	-1.0302	9	.	.	.	-28.2281	5.7092	0.17925	0.3413:0.5634:0.0:0.0953	.	955;827	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	W	883;755;955;827	ENSP00000383279:R883W;ENSP00000383276:R755W;ENSP00000386126:R955W;ENSP00000386147:R827W	.	R	+	1	2	UMODL1	42412293	0.394000	0.25246	0.872000	0.34217	0.039000	0.13416	0.608000	0.24223	0.115000	0.18071	-0.657000	0.03884	CGG		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			35	137	0	0	0	1	0	35	137				
ILF3	3609	broad.mit.edu	37	19	10793939	10793939	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:10793939G>A	ENST00000590261.1	+	13	1674		c.e13+1		ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000449870.1_Splice_Site			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGTCATGGAGGTGCGCAGCCT	0.637																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.e14+1		interleukin enhancer binding factor 3, 90kDa							49.0	49.0	49.0					19																	10793939		2203	4300	6503	SO:0001630	splice_region_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10793939G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1674+1G>A	19.37:g.10793939G>A			Somatic				ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000590261.1_Splice_Site		NM_017620.2	NP_060090.2	WXS	Illumina GAIIx	Phase_I	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		14	2003	+								A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Splice_Site	SNP	ENST00000590261.1	37		CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983560	0.93044	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8865	0.92379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ILF3	10654939	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.827000	0.99397	2.761000	0.94854	0.650000	0.86243	.		0.637	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		Intron	4	86	0	0	0	1	0	4	86				
JAZF1	221895	broad.mit.edu	37	7	27880436	27880436	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880436C>G	ENST00000283928.5	-	4	601	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	146					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GTCCAGGACTCATCGCTGTCC	0.577			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(436-438)Gag>Cag		JAZF zinc finger 1							205.0	150.0	169.0					7																	27880436		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27880436C>G	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.436G>C	7.37:g.27880436C>G	ENSP00000283928:p.Glu146Gln		Somatic				JAZF1_ENST00000466516.1_5'UTR	p.E146Q	NM_175061.3	NP_778231.2	WXS	Illumina GAIIx	Phase_I	Q86VZ6	JAZF1_HUMAN			4	601	-			146					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.436G>C	CCDS5416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.808463|4.808463	0.90707|0.90707	.|.	.|.	ENSG00000153814|ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620|ENST00000427814	T|.	0.78707|.	-1.2|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70316|0.70316	0.3210|0.3210	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D|.	0.61080|.	0.989|.	D|.	0.72982|.	0.979|.	T|T	0.63849|0.63849	-0.6544|-0.6544	10|5	0.37606|.	T|.	0.19|.	-24.9087|-24.9087	20.3789|20.3789	0.98926|0.98926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	146|.	Q86VZ6|.	JAZF1_HUMAN|.	Q|I	146;113;122|132	ENSP00000283928:E146Q|.	ENSP00000283928:E146Q|.	E|M	-|-	1|3	0|0	JAZF1|JAZF1	27846961|27846961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.245000|7.245000	0.78237|0.78237	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.577	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		85	3462	0	0	0	1	0	85	3462				
CUL9	23113	broad.mit.edu	37	6	43171720	43171720	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:43171720C>G	ENST00000252050.4	+	20	4238	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	CUL9_ENST00000372647.2_Missense_Mutation_p.S1385C|CUL9_ENST00000354495.3_Missense_Mutation_p.S1275C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1385					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AACATCACCTCTCCCGGTAAC	0.567																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4153-4155)tCt>tGt		cullin 9							57.0	60.0	59.0					6																	43171720		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43171720C>G	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4154C>G	6.37:g.43171720C>G	ENSP00000252050:p.Ser1385Cys		Somatic				CUL9_ENST00000372647.2_Missense_Mutation_p.S1385C|CUL9_ENST00000354495.3_Missense_Mutation_p.S1275C	p.S1385C	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			20	4238	+			1385					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4154C>G	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968133	0.34754	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74947	-0.89;-0.89;-0.78	5.88	0.692	0.18050	.	1.173640	0.05880	N	0.626206	T	0.52484	0.1737	L	0.40543	1.245	0.09310	N	1	B;B;B	0.20368	0.044;0.003;0.003	B;B;B	0.22880	0.042;0.021;0.021	T	0.56697	-0.7936	10	0.66056	D	0.02	-8.7272	14.4505	0.67382	0.0:0.4187:0.5192:0.0622	.	1275;1385;1385	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1385;1275;1385	ENSP00000252050:S1385C;ENSP00000346490:S1275C;ENSP00000361730:S1385C	ENSP00000252050:S1385C	S	+	2	0	CUL9	43279698	0.010000	0.17322	0.965000	0.40720	0.956000	0.61745	1.056000	0.30480	0.085000	0.17107	0.655000	0.94253	TCT		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		29	57	0	0	0	1	0	29	57				
FRK	2444	broad.mit.edu	37	6	116277768	116277768	+	Missense_Mutation	SNP	T	T	C	rs200172011		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:116277768T>C	ENST00000606080.1	-	5	1251	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FRK_ENST00000538210.1_Missense_Mutation_p.M127V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTTGGATCCATTGAACCTGAA	0.428																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(805-807)Atg>Gtg		fyn-related kinase							111.0	118.0	115.0					6																	116277768		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116277768T>C	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.805A>G	6.37:g.116277768T>C	ENSP00000476145:p.Met269Val		Somatic				FRK_ENST00000538210.1_Missense_Mutation_p.M127V	p.M269V	NM_002031.2	NP_002022.1	WXS	Illumina GAIIx	Phase_I	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	5	1251	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	269			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.805A>G	CCDS5103.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	21.2	4.106556	0.77096	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82526	-1.62;-1.62	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.86527	0.1819	10	0.87932	D	0	.	16.0351	0.80621	0.0:0.0:0.0:1.0	.	269	P42685	FRK_HUMAN	V	269;127	ENSP00000357615:M269V;ENSP00000443075:M127V	ENSP00000357615:M269V	M	-	1	0	FRK	116384461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.186000	0.69663	0.533000	0.62120	ATG		0.428	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		36	46	0	0	0	1	0	36	46				
BTBD2	55643	broad.mit.edu	37	19	1987539	1987539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:1987539C>T	ENST00000255608.4	-	6	1157	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	381						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGACTCTCCACCTGCTGG	0.667																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1141-1143)Gag>Aag		BTB (POZ) domain containing 2							40.0	34.0	36.0					19																	1987539		2200	4299	6499	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987539C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1141G>A	19.37:g.1987539C>T	ENSP00000255608:p.Glu381Lys		Somatic					p.E381K	NM_017797.3	NP_060267.2	WXS	Illumina GAIIx	Phase_I	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1157	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	381					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1141G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.985476	0.93044	.	.	ENSG00000133243	ENST00000255608	T	0.15372	2.43	4.15	4.15	0.48705	PHR (1);	0.101356	0.64402	D	0.000003	T	0.29158	0.0725	M	0.62723	1.935	0.80722	D	1	P	0.49185	0.92	P	0.51229	0.663	T	0.03608	-1.1020	10	0.40728	T	0.16	-24.3122	15.5867	0.76489	0.0:1.0:0.0:0.0	.	381	Q9BX70	BTBD2_HUMAN	K	381	ENSP00000255608:E381K	ENSP00000255608:E381K	E	-	1	0	BTBD2	1938539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.129000	0.65627	0.556000	0.70494	GAG		0.667	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			6	18	0	0	0	1	0	6	18				
ASB17	127247	broad.mit.edu	37	1	76397738	76397738	+	Missense_Mutation	SNP	C	C	T	rs148576874		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:76397738C>T	ENST00000284142.6	-	1	378	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	80					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TACTTCAAAACGGTATCCTGA	0.373																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(238-240)cGt>cAt		ankyrin repeat and SOCS box containing 17		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	115.0	118.0		239	2.0	0.9	1	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB17	NM_080868.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	80/296	76397738	2,13004	2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397738C>T	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.239G>A	1.37:g.76397738C>T	ENSP00000284142:p.Arg80His		Somatic					p.R80H	NM_080868.2	NP_543144.1	WXS	Illumina GAIIx	Phase_I	Q8WXJ9	ASB17_HUMAN			1	378	-			80					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.239G>A	CCDS671.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185544	0.38609	2.27E-4	1.16E-4	ENSG00000154007	ENST00000284142	T	0.44083	0.93	6.08	1.99	0.26369	.	0.334157	0.26096	N	0.026370	T	0.08492	0.0211	N	0.14661	0.345	0.29556	N	0.851016	B	0.11235	0.004	B	0.04013	0.001	T	0.23048	-1.0199	10	0.45353	T	0.12	.	5.2181	0.15354	0.0:0.5974:0.1461:0.2565	.	80	Q8WXJ9	ASB17_HUMAN	H	80	ENSP00000284142:R80H	ENSP00000284142:R80H	R	-	2	0	ASB17	76170326	0.998000	0.40836	0.940000	0.37924	0.341000	0.28922	0.428000	0.21395	0.112000	0.17975	-0.345000	0.07892	CGT		0.373	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		17	37	0	0	0	1	0	17	37				
SUV39H1	6839	broad.mit.edu	37	X	48559033	48559033	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:48559033G>C	ENST00000376687.3	+	3	907	c.717G>C	c.(715-717)aaG>aaC	p.K239N	SUV39H1_ENST00000337852.6_Missense_Mutation_p.K250N|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R87T	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	239	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGTACAGAAGGGTATCCGAT	0.607																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(715-717)aaG>aaC		suppressor of variegation 3-9 homolog 1 (Drosophila)							66.0	52.0	57.0					X																	48559033		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48559033G>C	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.717G>C	X.37:g.48559033G>C	ENSP00000365877:p.Lys239Asn		Somatic				AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.K250N|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R87T	p.K239N	NM_003173.2	NP_003164.1	WXS	Illumina GAIIx	Phase_I	O43463	SUV91_HUMAN			3	907	+			239			Pre-SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.717G>C	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.957|3.957	-0.011157|-0.011157	0.07727|0.07727	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000422496|ENST00000448548;ENST00000453214	D;D|.	0.89810|.	-2.57;-2.57|.	5.06|5.06	1.23|1.23	0.21249|0.21249	Pre-SET domain (1);|.	0.115583|.	0.64402|.	D|.	0.000018|.	T|T	0.28764|0.28764	0.0713|0.0713	L|L	0.38175|0.38175	1.15|1.15	0.27299|0.27299	N|N	0.95763|0.95763	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.31138|0.31138	-0.9954|-0.9954	10|6	0.26408|0.02654	T|T	0.33|1	.|.	10.7402|10.7402	0.46149|0.46149	0.3109:0.0:0.6891:0.0|0.3109:0.0:0.6891:0.0	.|.	250;239|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	N|T	250;239;97|236;87	ENSP00000337976:K250N;ENSP00000365877:K239N|.	ENSP00000337976:K250N|ENSP00000410043:R236T	K|R	+|+	3|2	2|0	SUV39H1|SUV39H1	48443977|48443977	0.991000|0.991000	0.36638|0.36638	0.988000|0.988000	0.46212|0.46212	0.151000|0.151000	0.21798|0.21798	0.252000|0.252000	0.18278|0.18278	-0.477000|-0.477000	0.06832|0.06832	-1.978000|-1.978000	0.00458|0.00458	AAG|AGG		0.607	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		33	53	0	0	0	1	0	33	53				
HOXA5	3202	broad.mit.edu	37	7	27181573	27181573	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27181573G>C	ENST00000222726.3	-	2	754	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000521401.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	232					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GAGAGGCAAAGAGCATGTGCT	0.507											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(119;75 2200 7557 42868)	ENST00000222726.3																			0				central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(694-696)Ctt>Gtt		homeobox A5							137.0	133.0	134.0					7																	27181573		2203	4300	6503	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27181573G>C		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.694C>G	7.37:g.27181573G>C	ENSP00000222726:p.Leu232Val		Somatic	OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA	p.L232V	NM_019102.3	NP_061975.2	WXS	Illumina GAIIx	Phase_I	P20719	HXA5_HUMAN			2	754	-			232					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.694C>G	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432992	0.62844	.	.	ENSG00000106004	ENST00000222726	D	0.98120	-4.73	4.76	4.76	0.60689	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99831	1.1054	10	0.87932	D	0	.	18.1224	0.89576	0.0:0.0:1.0:0.0	.	232	P20719	HXA5_HUMAN	V	232	ENSP00000222726:L232V	ENSP00000222726:L232V	L	-	1	0	HOXA5	27148098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.923000	0.87546	2.364000	0.80123	0.543000	0.68304	CTT		0.507	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			48	950	0	0	0	1	0	48	950				
KRT24	192666	broad.mit.edu	37	17	38857428	38857428	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:38857428G>A	ENST00000264651.2	-	3	875	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	273	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTAGCTCCTCGGTGAAACTCT	0.498																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(817-819)acC>acT		keratin 24							135.0	117.0	123.0					17																	38857428		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857428G>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.819C>T	17.37:g.38857428G>A			Somatic					p.T273T	NM_019016.2	NP_061889.2	WXS	Illumina GAIIx	Phase_I	Q2M2I5	K1C24_HUMAN			3	875	-		Breast(137;0.00526)	273			Coil 1B.|Rod.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.819C>T	CCDS11372.1																																																																																				0.498	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		34	64	0	0	0	1	0	34	64				
MIR450A1	554214	broad.mit.edu	37	X	133674628	133674628	+	RNA	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:133674628C>A	ENST00000362262.1	-	0	0				MIR450B_ENST00000401182.1_RNA|MIR450A2_ENST00000385022.1_RNA|MIR542_ENST00000385050.1_RNA	NR_029962.1				microRNA 450a-1																		AGTTTAGCATCTTTCTTTGGt	0.303																																						ENST00000385022.1																			0																				101.0	78.0	85.0					X																	133674628		1568	3578	5146			574505							g.chrX:133674628C>A			Xq26.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000199132	ENSG00000199132		"""ncRNAs / Micro RNAs"""	28008	non-coding RNA	RNA, micro			"""microRNA 450"", ""microRNA 450-1"""	MIRN450, MIRN450-1, MIRN450A1			Standard	NR_029962		Approved	hsa-mir-450, hsa-mir-450-1, hsa-mir-450a-1	uc011mvl.2				X.37:g.133674628C>A			Somatic						NR_030227.1		WXS	Illumina GAIIx	Phase_I					0	9	-									RNA	SNP	ENST00000362262.1	37																																																																																						0.303	MIR450A1-201	KNOWN	basic	miRNA	miRNA		NR_029962		7	25	1	0	8.12818e-05	1	8.23107e-05	7	25				
TRAF2	7186	broad.mit.edu	37	9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:139815644G>A	ENST00000247668.2	+	9	1167	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H|TRAF2_ENST00000359662.3_Missense_Mutation_p.R424H	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1270-1272)cGc>cAc		TNF receptor-associated factor 2							58.0	55.0	56.0					9																	139815644		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139815644G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1115G>A	9.37:g.139815644G>A	ENSP00000247668:p.Arg372His		Somatic				TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H|TRAF2_ENST00000247668.2_Missense_Mutation_p.R372H	p.R424H			WXS	Illumina GAIIx	Phase_I	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	9	1316	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	372			MATH.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.1271G>A	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672923	0.67928	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.37915	1.47;1.47;1.17	4.23	4.23	0.50019	TRAF-type (1);TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.999;0.828	T	0.58115	-0.7693	10	0.46703	T	0.11	-47.377	16.7645	0.85521	0.0:0.0:1.0:0.0	.	361;347;372	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	H	372;371;372;424;293	ENSP00000446414:R372H;ENSP00000247668:R372H;ENSP00000352685:R424H	ENSP00000247668:R372H	R	+	2	0	TRAF2	138935465	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	9.108000	0.94275	2.162000	0.67917	0.491000	0.48974	CGC		0.592	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		4	96	0	0	0	1	0	4	96				
JAZF1	221895	broad.mit.edu	37	7	27880445	27880445	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880445C>T	ENST00000283928.5	-	4	592	c.427G>A	c.(427-429)Gac>Aac	p.D143N	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	143					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCATCGCTGTCCGACTCCTCA	0.577			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(427-429)Gac>Aac		JAZF zinc finger 1							194.0	143.0	160.0					7																	27880445		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27880445C>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.427G>A	7.37:g.27880445C>T	ENSP00000283928:p.Asp143Asn		Somatic				JAZF1_ENST00000466516.1_5'UTR	p.D143N	NM_175061.3	NP_778231.2	WXS	Illumina GAIIx	Phase_I	Q86VZ6	JAZF1_HUMAN			4	592	-			143					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.427G>A	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255016	0.95336	.	.	ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620	D	0.81739	-1.53	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	M	0.66297	2.02	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	D	0.88757	0.3254	10	0.59425	D	0.04	-21.007	20.3789	0.98926	0.0:1.0:0.0:0.0	.	143	Q86VZ6	JAZF1_HUMAN	N	143;110;119	ENSP00000283928:D143N	ENSP00000283928:D143N	D	-	1	0	JAZF1	27846970	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	7.245000	0.78237	2.826000	0.97356	0.563000	0.77884	GAC		0.577	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		78	3304	0	0	0	1	0	78	3304				
GRM5	2915	broad.mit.edu	37	11	88780946	88780946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:88780946G>A	ENST00000305447.4	-	1	244	c.95C>T	c.(94-96)cCg>cTg	p.P32L	GRM5_ENST00000418177.2_Missense_Mutation_p.P32L|GRM5_ENST00000305432.5_Missense_Mutation_p.P32L|GRM5_ENST00000455756.2_Missense_Mutation_p.P32L|GRM5_ENST00000393297.1_Missense_Mutation_p.P32L|GRM5_ENST00000393294.3_Missense_Mutation_p.P32L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	32					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.P32Q(2)|p.P32L(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GATGTCACCCGGCATGTGAGC	0.502																																						ENST00000418177.2																			3	Substitution - Missense(3)	p.P32Q(2)|p.P32L(1)	lung(2)|central_nervous_system(1)	NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(94-96)cCg>cTg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						72.0	65.0	67.0					11																	88780946		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780946G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.95C>T	11.37:g.88780946G>A	ENSP00000306138:p.Pro32Leu		Somatic				GRM5_ENST00000305447.4_Missense_Mutation_p.P32L|GRM5_ENST00000455756.2_Missense_Mutation_p.P32L|GRM5_ENST00000305432.5_Missense_Mutation_p.P32L|GRM5_ENST00000393294.3_Missense_Mutation_p.P32L|GRM5_ENST00000393297.1_Missense_Mutation_p.P32L	p.P32L			WXS	Illumina GAIIx	Phase_I	P41594	GRM5_HUMAN			2	462	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	32					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.95C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301676	0.60195	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.93	5.93	0.95920	.	0.053050	0.85682	D	0.000000	D	0.87517	0.6197	M	0.61703	1.905	0.54753	D	0.999988	P;D;P	0.55800	0.838;0.973;0.955	B;B;B	0.43536	0.156;0.423;0.243	D	0.86749	0.1959	9	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	32;32;32	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	L	32	ENSP00000402912:P32L;ENSP00000405690:P32L;ENSP00000305905:P32L;ENSP00000306138:P32L;ENSP00000376975:P32L;ENSP00000376972:P32L	.	P	-	2	0	GRM5	88420594	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	4.744000	0.62118	2.802000	0.96397	0.563000	0.77884	CCG		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		13	31	0	0	0	1	0	13	31				
RGAG1	57529	broad.mit.edu	37	X	109698484	109698484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:109698484G>T	ENST00000465301.2	+	4	4348	c.4102G>T	c.(4102-4104)Gaa>Taa	p.E1368*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E1368*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1368										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGACCCCCAAGAAGGTCTTCA	0.468																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(4102-4104)Gaa>Taa		retrotransposon gag domain containing 1							202.0	176.0	185.0					X																	109698484		2203	4300	6503	SO:0001587	stop_gained	57529							g.chrX:109698484G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.4102G>T	X.37:g.109698484G>T	ENSP00000419786:p.Glu1368*		Somatic				RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E1368*	p.E1368*	NM_020769.2	NP_065820.1	WXS	Illumina GAIIx	Phase_I	Q8NET4	RGAG1_HUMAN			4	4348	+			1368					Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	c.4102G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	39	7.817456	0.98507	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	.	.	.	4.54	2.77	0.32553	.	0.000000	0.41938	D	0.000794	.	.	.	.	.	.	0.44736	D	0.997735	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7604	5.901	0.18965	0.237:0.0:0.763:0.0	.	.	.	.	X	1368;1368;929	.	.	E	+	1	0	RGAG1	109585140	0.977000	0.34250	0.160000	0.22671	0.769000	0.43574	1.601000	0.36773	0.635000	0.30488	0.600000	0.82982	GAA		0.468	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		23	183	1	0	2.32416e-17	1	2.5126e-17	23	183				
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123504071C>G	ENST00000371139.4	+	3	546	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V	SH2D1A_ENST00000491950.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000477673.2_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83V	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373																																						ENST00000371139.4																			1	Substitution - Missense(1)	p.L83V(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(247-249)Ctc>Gtc		SH2 domain containing 1A							114.0	111.0	112.0					X																	123504071		2203	4300	6503	SO:0001583	missense	4068				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123504071C>G	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.247C>G	X.37:g.123504071C>G	ENSP00000360181:p.Leu83Val		Somatic				SH2D1A_ENST00000477673.2_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83V|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	p.L83V	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	WXS	Illumina GAIIx	Phase_I	O60880	SH21A_HUMAN			3	546	+			83			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.247C>G	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262853	0.59431	.	.	ENSG00000183918	ENST00000371139;ENST00000360027	D;D	0.96073	-3.9;-3.9	5.23	5.23	0.72850	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.97854	0.9295	M	0.92026	3.265	0.48395	D	0.999647	D;D	0.71674	0.997;0.998	D;D	0.83275	0.993;0.996	D	0.98421	1.0577	10	0.87932	D	0	-13.1415	10.4445	0.44486	0.0:0.9087:0.0:0.0913	.	83;83	O60880-4;O60880	.;SH21A_HUMAN	V	83	ENSP00000360181:L83V;ENSP00000353126:L83V	ENSP00000353126:L83V	L	+	1	0	SH2D1A	123331752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.385000	0.52485	2.160000	0.67779	0.594000	0.82650	CTC		0.373	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		4	130	0	0	0	1	0	4	130				
KCNT1	57582	broad.mit.edu	37	9	138669222	138669222	+	Silent	SNP	C	C	T	rs530678159		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:138669222C>T	ENST00000263604.3	+	21	2331	c.2331C>T	c.(2329-2331)taC>taT	p.Y777Y	KCNT1_ENST00000298480.5_Silent_p.Y796Y|KCNT1_ENST00000487664.1_Silent_p.Y751Y|KCNT1_ENST00000491806.2_Silent_p.Y763Y|KCNT1_ENST00000371757.2_Silent_p.Y796Y|KCNT1_ENST00000486577.2_Silent_p.Y755Y|KCNT1_ENST00000490355.2_Silent_p.Y775Y|KCNT1_ENST00000488444.2_Silent_p.Y777Y			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	777			Y -> H (in ENFL5). {ECO:0000269|PubMed:23086396}.		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAAGGCCTACGGGTTCAAGA	0.602																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2386-2388)taC>taT		potassium channel, subfamily T, member 1							115.0	102.0	107.0					9																	138669222		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669222C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2331C>T	9.37:g.138669222C>T			Somatic				KCNT1_ENST00000263604.3_Silent_p.Y777Y|KCNT1_ENST00000486577.2_Silent_p.Y755Y|KCNT1_ENST00000487664.1_Silent_p.Y751Y|KCNT1_ENST00000490355.2_Silent_p.Y775Y|KCNT1_ENST00000491806.2_Silent_p.Y763Y|KCNT1_ENST00000488444.2_Silent_p.Y777Y|KCNT1_ENST00000371757.2_Silent_p.Y796Y	p.Y796Y			WXS	Illumina GAIIx	Phase_I	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2462	+		Myeloproliferative disorder(178;0.0821)	796					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2388C>T																																																																																					0.602	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		23	116	0	0	0	1	0	23	116				
NPY	4852	broad.mit.edu	37	7	24329168	24329168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329168G>A	ENST00000407573.1	+	4	529	c.239G>A	c.(238-240)aGa>aAa	p.R80K	NPY_ENST00000405982.1_Missense_Mutation_p.R80K|NPY_ENST00000242152.2_Missense_Mutation_p.R80K			P01303	NPY_HUMAN	neuropeptide Y	80					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CTCTTGATGAGAGAAAGCACA	0.443																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(238-240)aGa>aAa		neuropeptide Y							122.0	114.0	117.0					7																	24329168		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24329168G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.239G>A	7.37:g.24329168G>A	ENSP00000384364:p.Arg80Lys		Somatic				NPY_ENST00000242152.2_Missense_Mutation_p.R80K|NPY_ENST00000405982.1_Missense_Mutation_p.R80K	p.R80K			WXS	Illumina GAIIx	Phase_I	P01303	NPY_HUMAN			4	529	+			80						Missense_Mutation	SNP	ENST00000407573.1	37	c.239G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	7.638	0.680238	0.14907	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.10960	2.82;2.82;2.82	5.78	3.93	0.45458	.	0.190994	0.56097	N	0.000028	T	0.04907	0.0132	.	.	.	0.32866	D	0.508554	B	0.09022	0.002	B	0.09377	0.004	T	0.18999	-1.0319	9	0.02654	T	1	-4.3107	13.2261	0.59914	0.1327:0.0:0.8673:0.0	.	80	P01303	NPY_HUMAN	K	80	ENSP00000242152:R80K;ENSP00000384364:R80K;ENSP00000385282:R80K	ENSP00000242152:R80K	R	+	2	0	NPY	24295693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.009000	0.49552	1.425000	0.47237	0.650000	0.86243	AGA		0.443	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		258	306	0	0	0	1	0	258	306				
EGFR	1956	broad.mit.edu	37	7	55223594	55223594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223594G>T	ENST00000275493.2	+	8	1138	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	EGFR_ENST00000344576.2_Missense_Mutation_p.D321Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D321Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D268Y|EGFR_ENST00000455089.1_Missense_Mutation_p.D276Y|EGFR_ENST00000442591.1_Missense_Mutation_p.D321Y|EGFR_ENST00000342916.3_Missense_Mutation_p.D321Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	321					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATGGAGGAAGACGGCGTCCG	0.602		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(961-963)Gac>Tac		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						51.0	47.0	49.0					7																	55223594		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223594G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.961G>T	7.37:g.55223594G>T	ENSP00000275493:p.Asp321Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	Somatic				EGFR_ENST00000455089.1_Missense_Mutation_p.D276Y|EGFR_ENST00000344576.2_Missense_Mutation_p.D321Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D268Y|EGFR_ENST00000442591.1_Missense_Mutation_p.D321Y|EGFR_ENST00000342916.3_Missense_Mutation_p.D321Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D321Y	p.D321Y	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1138	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		321					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.961G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585499	0.46110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.142969	0.64402	D	0.000006	D	0.89291	0.6673	L	0.61218	1.895	0.41265	D	0.986804	D;D;D;D;P	0.76494	0.962;0.979;0.999;0.996;0.923	P;P;D;D;P	0.67231	0.746;0.893;0.95;0.915;0.568	D	0.89634	0.3857	10	0.87932	D	0	.	8.7977	0.34890	0.1587:0.0:0.8413:0.0	.	276;321;321;321;321	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	276;321;191;321;321;321;321;268;115	ENSP00000415559:D276Y;ENSP00000342376:D321Y;ENSP00000345973:D321Y;ENSP00000413843:D321Y;ENSP00000275493:D321Y;ENSP00000410031:D321Y;ENSP00000395243:D268Y	ENSP00000275493:D321Y	D	+	1	0	EGFR	55191088	1.000000	0.71417	0.512000	0.27736	0.069000	0.16628	4.247000	0.58750	2.655000	0.90218	0.655000	0.94253	GAC		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		76	1007	1	0	2.23044e-30	1	2.47826e-30	76	1007				
ISLR2	57611	broad.mit.edu	37	15	74426192	74426192	+	Missense_Mutation	SNP	C	C	T	rs555771000		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr15:74426192C>T	ENST00000361742.3	+	4	1866	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	ISLR2_ENST00000435464.1_Missense_Mutation_p.T366M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T366M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T366M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T366M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T366M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T366M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	366	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCAACTCTACGTCAATACGC	0.672																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1096-1098)aCg>aTg		immunoglobulin superfamily containing leucine-rich repeat 2							16.0	18.0	17.0					15																	74426192		2196	4294	6490	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426192C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1097C>T	15.37:g.74426192C>T	ENSP00000355402:p.Thr366Met		Somatic				ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T366M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T366M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T366M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T366M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T366M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T366M	p.T366M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	WXS	Illumina GAIIx	Phase_I	Q6UXK2	ISLR2_HUMAN			4	1866	+			366			Ig-like.		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1097C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016675	0.19355	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.77	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.203562	0.41001	D	0.000976	T	0.26955	0.0660	L	0.53671	1.685	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.03403	-1.1040	10	0.72032	D	0.01	.	9.7458	0.40446	0.0:0.5237:0.3989:0.0774	.	366	Q6UXK2	ISLR2_HUMAN	M	366	ENSP00000403244:T366M;ENSP00000355402:T366M;ENSP00000411443:T366M;ENSP00000411834:T366M;ENSP00000408872:T366M	ENSP00000355402:T366M	T	+	2	0	ISLR2	72213245	0.360000	0.24964	0.039000	0.18376	0.314000	0.28054	2.197000	0.42696	0.406000	0.25560	0.305000	0.20034	ACG		0.672	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		14	18	0	0	0	1	0	14	18				
ANXA9	8416	broad.mit.edu	37	1	150957082	150957082	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:150957082C>T	ENST00000368947.4	+	7	878	c.402C>T	c.(400-402)gaC>gaT	p.D134D		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	134					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTGTGGACGTGGCCATTG	0.542																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(400-402)gaC>gaT		annexin A9							59.0	56.0	57.0					1																	150957082		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150957082C>T	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.402C>T	1.37:g.150957082C>T			Somatic					p.D134D	NM_003568.2	NP_003559.2	WXS	Illumina GAIIx	Phase_I	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	878	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		134					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.402C>T	CCDS975.2																																																																																				0.542	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		7	24	0	0	0	1	0	7	24				
NNT	23530	broad.mit.edu	37	5	43613179	43613179	+	Silent	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:43613179A>G	ENST00000264663.5	+	3	542	c.321A>G	c.(319-321)agA>agG	p.R107R	NNT_ENST00000344920.4_Silent_p.R107R|NNT_ENST00000512996.2_5'UTR	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	107					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATCACTATAGAGTGGCAGGTG	0.478																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(319-321)agA>agG		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						105.0	108.0	107.0					5																	43613179		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43613179A>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.321A>G	5.37:g.43613179A>G			Somatic				NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.R107R	p.R107R	NM_012343.3	NP_036475.3	WXS	Illumina GAIIx	Phase_I	Q13423	NNTM_HUMAN			3	542	+	Lung NSC(6;2.58e-06)		107					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.321A>G	CCDS3949.1																																																																																				0.478	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		67	80	0	0	0	1	0	67	80				
ANKRD30B	374860	broad.mit.edu	37	18	14850277	14850277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:14850277C>A	ENST00000358984.4	+	35	3283	c.3103C>A	c.(3103-3105)Ccc>Acc	p.P1035T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1035										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAAATTAGACCCGAAGAGCA	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3103-3105)Ccc>Acc		ankyrin repeat domain 30B							60.0	52.0	55.0					18																	14850277		692	1576	2268	SO:0001583	missense	374860							g.chr18:14850277C>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3103C>A	18.37:g.14850277C>A	ENSP00000351875:p.Pro1035Thr		Somatic					p.P1035T	NM_001145029.1	NP_001138501.1	WXS	Illumina GAIIx	Phase_I	Q9BXX2	AN30B_HUMAN			35	3283	+			1120					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3103C>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.276368	0.00254	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.16196	2.36	1.48	0.229	0.15368	.	.	.	.	.	T	0.09423	0.0232	N	0.22421	0.69	0.58432	D	0.999997	B;B	0.25904	0.013;0.137	B;B	0.16289	0.005;0.015	T	0.14587	-1.0467	9	0.66056	D	0.02	.	5.6065	0.17383	0.7105:0.2894:0.0:0.0	.	1120;1035	Q9BXX2;F8WAG3	AN30B_HUMAN;.	T	1035;429;455	ENSP00000351875:P1035T	ENSP00000277669:P455T	P	+	1	0	ANKRD30B	14840277	0.929000	0.31497	0.032000	0.17829	0.027000	0.11550	1.633000	0.37113	0.056000	0.16144	0.173000	0.16961	CCC		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		7	21	1	0	2.0095e-06	1	2.11526e-06	7	21				
CACNA1E	777	broad.mit.edu	37	1	181745306	181745306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:181745306G>A	ENST00000367573.2	+	38	5209	c.5209G>A	c.(5209-5211)Ggg>Agg	p.G1737R	CACNA1E_ENST00000526775.1_Missense_Mutation_p.G1718R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1344R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1688R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1718R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1669R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1737R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1737					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCCATCCTGGGGCCTCACCA	0.602																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5152-5154)Ggg>Agg		calcium channel, voltage-dependent, R type, alpha 1E subunit							154.0	156.0	156.0					1																	181745306		1992	4190	6182	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745306G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5209G>A	1.37:g.181745306G>A	ENSP00000356545:p.Gly1737Arg		Somatic				CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1344R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1688R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1718R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1669R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1737R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1737R	p.G1718R	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			37	5317	+			1737					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5152G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772215	0.96922	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96774	-4.02;-4.02;-4.12;-4.02;-4.1;-4.11;-4.11	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99305	1.0902	10	0.87932	D	0	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1718;1737;1737	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1737;1718;1688;1669;1344;1718;1737	ENSP00000356542:G1737R;ENSP00000434814:G1718R;ENSP00000350183:G1688R;ENSP00000351101:G1669R;ENSP00000356539:G1344R;ENSP00000353222:G1718R;ENSP00000356545:G1737R	ENSP00000350183:G1688R	G	+	1	0	CACNA1E	180011929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.731000	0.98807	2.769000	0.95229	0.655000	0.94253	GGG		0.602	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		80	123	0	0	0	1	0	80	123				
VSIG1	340547	broad.mit.edu	37	X	107316040	107316040	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:107316040C>T	ENST00000217957.5	+	4	663	c.546C>T	c.(544-546)atC>atT	p.I182I	VSIG1_ENST00000415430.3_Silent_p.I218I|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	182	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GAAGAGACATCGTGCCAGTGA	0.507																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(652-654)atC>atT		V-set and immunoglobulin domain containing 1							171.0	133.0	146.0					X																	107316040		2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107316040C>T	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.546C>T	X.37:g.107316040C>T			Somatic				VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Silent_p.I182I	p.I218I	NM_001170553.1	NP_001164024.1	WXS	Illumina GAIIx	Phase_I	Q86XK7	VSIG1_HUMAN			5	815	+			182			Ig-like C2-type 2.		C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.654C>T	CCDS14535.1																																																																																				0.507	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		33	71	0	0	0	1	0	33	71				
GNAO1	2775	broad.mit.edu	37	16	56377821	56377821	+	Intron	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:56377821G>A	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.V342I	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGTGACGGACGTCATCATCGC	0.622																																						ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(1024-1026)Gtc>Atc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							165.0	114.0	131.0					16																	56377821		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56377821G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+7049G>A	16.37:g.56377821G>A			Somatic				GNAO1_ENST00000262493.6_Intron	p.V342I	NM_138736.2	NP_620073.2	WXS	Illumina GAIIx	Phase_I	P09471	GNAO_HUMAN			8	1284	+		all_neural(199;0.159)	342					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.1024G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761600	0.49468	.	.	ENSG00000087258	ENST00000262494	D	0.87887	-2.31	4.58	4.58	0.56647	.	.	.	.	.	T	0.74076	0.3669	N	0.05259	-0.085	0.38401	D	0.94567	B	0.06786	0.001	B	0.09377	0.004	T	0.69774	-0.5054	9	0.11794	T	0.64	.	17.7684	0.88485	0.0:0.0:1.0:0.0	.	342	P09471-2	.	I	342	ENSP00000262494:V342I	ENSP00000262494:V342I	V	+	1	0	GNAO1	54935322	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.893000	0.87330	2.278000	0.76064	0.561000	0.74099	GTC		0.622	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		22	59	0	0	0	1	0	22	59				
MBD6	114785	broad.mit.edu	37	12	57919681	57919681	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57919681G>A	ENST00000355673.3	+	6	1286	c.930G>A	c.(928-930)gtG>gtA	p.V310V	MBD6_ENST00000431731.2_Silent_p.V310V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	310	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCCACGGTGGAGGGGCCTG	0.687																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(928-930)gtG>gtA		methyl-CpG binding domain protein 6							22.0	28.0	26.0					12																	57919681		2192	4286	6478	SO:0001819	synonymous_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919681G>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.930G>A	12.37:g.57919681G>A			Somatic				MBD6_ENST00000431731.2_Silent_p.V310V	p.V310V	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			6	1286	+			310			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	c.930G>A	CCDS8944.1																																																																																				0.687	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			18	1104	0	0	0	1	0	18	1104				
OPRD1	4985	broad.mit.edu	37	1	29189572	29189572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:29189572C>T	ENST00000234961.2	+	3	1138	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	299					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GTGGTGGCTGCGCTGCACCTG	0.642																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(895-897)gCg>gTg		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						27.0	24.0	25.0					1																	29189572		2202	4299	6501	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189572C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.896C>T	1.37:g.29189572C>T	ENSP00000234961:p.Ala299Val		Somatic					p.A299V	NM_000911.3	NP_000902.3	WXS	Illumina GAIIx	Phase_I	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1138	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	299					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.896C>T	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800455	0.16397	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37058	1.22	4.06	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.404404	0.26217	N	0.025651	T	0.18215	0.0437	N	0.17723	0.515	0.41655	D	0.989151	B	0.17852	0.024	B	0.17722	0.019	T	0.08249	-1.0731	10	0.02654	T	1	.	9.5865	0.39519	0.0:0.6495:0.3505:0.0	.	299	P41143	OPRD_HUMAN	V	299;251	ENSP00000234961:A299V	ENSP00000234961:A299V	A	+	2	0	OPRD1	29062159	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.580000	0.60942	2.097000	0.63578	0.462000	0.41574	GCG		0.642	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		11	18	0	0	0	1	0	11	18				
KIAA0754	643314	broad.mit.edu	37	1	39876700	39876700	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:39876700T>C	ENST00000530275.1	+	1	550	c.355T>C	c.(355-357)Tca>Cca	p.S119P	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	119										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCAGATTCTCAAGTGCAAC	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(355-357)Tca>Cca		KIAA0754							37.0	38.0	38.0					1																	39876700		1930	4138	6068	SO:0001583	missense	643314							g.chr1:39876700T>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.355T>C	1.37:g.39876700T>C	ENSP00000431179:p.Ser119Pro		Somatic	OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron	p.S119P	NM_015038.1	NP_055853.1	WXS	Illumina GAIIx	Phase_I	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	550	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	119					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.355T>C		.	.	.	.	.	.	.	.	.	.	T	10.27	1.303176	0.23736	.	.	ENSG00000255103	ENST00000530275	T	0.42131	0.98	4.93	2.63	0.31362	.	.	.	.	.	T	0.28764	0.0713	L	0.27053	0.805	0.22240	N	0.99927	B	0.24043	0.096	B	0.22152	0.038	T	0.24941	-1.0146	9	0.87932	D	0	.	6.8119	0.23809	0.0:0.3407:0.0:0.6593	.	119	O94854	K0754_HUMAN	P	119	ENSP00000431179:S119P	ENSP00000431179:S119P	S	+	1	0	RP4-562N20.1	39649287	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.684000	0.37649	0.732000	0.32470	0.533000	0.62120	TCA		0.512	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		17	28	0	0	0	1	0	17	28				
TRIM39	56658	broad.mit.edu	37	6	30309546	30309546	+	Missense_Mutation	SNP	G	G	A	rs199883161		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:30309546G>A	ENST00000396547.1	+	8	1227	c.1067G>A	c.(1066-1068)cGt>cAt	p.R356H	TRIM39_ENST00000396548.1_Missense_Mutation_p.R326H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R326H|TRIM39_ENST00000376659.5_Missense_Mutation_p.R326H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R238H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R356H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R326H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TCAGAGGATCGTAAGAGCGTC	0.567																																						ENST00000376659.5																			0				ovary(3)	3						c.(976-978)cGt>cAt		tripartite motif containing 39							91.0	61.0	72.0					6																	30309546		1511	2708	4219	SO:0001583	missense	56658							g.chr6:30309546G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1067G>A	6.37:g.30309546G>A	ENSP00000379796:p.Arg356His		Somatic				TRIM39_ENST00000540416.1_Missense_Mutation_p.R326H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R238H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R326H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R326H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R356H|TRIM39_ENST00000396547.1_Missense_Mutation_p.R356H	p.R326H	NM_172016.2	NP_742013.1	WXS	Illumina GAIIx	Phase_I					8	1575	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.977G>A	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773365	0.69992	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	T;T;T;T;T;T;T	0.11930	3.57;2.73;3.57;3.57;3.57;2.73;3.57	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.089238	0.48286	D	0.000192	T	0.31389	0.0795	M	0.87682	2.9	0.33064	D	0.534494	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.909;0.998;0.988	T	0.31251	-0.9950	10	0.46703	T	0.11	.	12.4587	0.55718	0.0:0.0:0.8328:0.1672	.	240;356;326	F5H2V3;Q9HCM9;Q9HCM9-2	.;TRI39_HUMAN;.	H	326;356;356;326;326;240;326;326;356;238	ENSP00000379800:R326H;ENSP00000365844:R356H;ENSP00000439400:R326H;ENSP00000379797:R326H;ENSP00000365847:R326H;ENSP00000379796:R356H;ENSP00000424048:R238H	ENSP00000365844:R356H	R	+	2	0	TRIM39-RPP21;TRIM39	30417525	0.007000	0.16637	1.000000	0.80357	0.993000	0.82548	1.585000	0.36600	2.730000	0.93505	0.655000	0.94253	CGT		0.567	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		20	29	0	0	0	1	0	20	29				
SMC6	79677	broad.mit.edu	37	2	17884529	17884529	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:17884529C>T	ENST00000448223.2	-	19	2306	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SMC6_ENST00000402989.1_Silent_p.T679T|SMC6_ENST00000381272.4_Silent_p.T705T|SMC6_ENST00000351948.4_Silent_p.T679T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	679					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATCTGGGCCGTCTTATTTT	0.313																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2035-2037)acG>acA		structural maintenance of chromosomes 6							81.0	85.0	84.0					2																	17884529		2203	4297	6500	SO:0001819	synonymous_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17884529C>T	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2037G>A	2.37:g.17884529C>T			Somatic				SMC6_ENST00000402989.1_Silent_p.T679T|SMC6_ENST00000351948.4_Silent_p.T679T|SMC6_ENST00000381272.4_Silent_p.T705T	p.T679T	NM_001142286.1	NP_001135758.1	WXS	Illumina GAIIx	Phase_I	Q96SB8	SMC6_HUMAN			19	2306	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		679					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	c.2037G>A	CCDS1690.1																																																																																				0.313	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		9	32	0	0	0	1	0	9	32				
HMCES	56941	broad.mit.edu	37	3	129023473	129023473	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:129023473G>T	ENST00000383463.4	+	7	959	c.870G>T	c.(868-870)tgG>tgT	p.W290C	HMCES_ENST00000417226.2_Missense_Mutation_p.W248C|HMCES_ENST00000502878.2_Missense_Mutation_p.W290C|HMCES_ENST00000389735.3_Missense_Mutation_p.W290C	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	290							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										TGTTGCAGTGGTTGGCCACAA	0.488																																						ENST00000383463.4																			0											c.(868-870)tgG>tgT		5-hydroxymethylcytosine (hmC) binding, ES cell-specific							136.0	133.0	134.0					3																	129023473		2203	4300	6503	SO:0001583	missense	56941							g.chr3:129023473G>T	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.870G>T	3.37:g.129023473G>T	ENSP00000372955:p.Trp290Cys		Somatic				HMCES_ENST00000389735.3_Missense_Mutation_p.W290C|HMCES_ENST00000417226.2_Missense_Mutation_p.W248C|HMCES_ENST00000502878.2_Missense_Mutation_p.W290C	p.W290C	NM_020187.2	NP_064572.2	WXS	Illumina GAIIx	Phase_I					7	959	+			290					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.870G>T	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927154	0.52759	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	4.02	4.02	0.46733	.	0.072512	0.64402	D	0.000012	T	0.70666	0.3250	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.69142	0.962;0.873	T	0.73244	-0.4044	9	0.72032	D	0.01	-16.0688	8.3053	0.32038	0.1124:0.0:0.8876:0.0	.	248;290	E7EMP6;Q96FZ2	.;CC037_HUMAN	C	242;290;248;290;290	.	ENSP00000372955:W290C	W	+	3	0	C3orf37	130506163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.046000	0.41260	2.187000	0.69744	0.591000	0.81541	TGG		0.488	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		45	85	1	0	3.4345e-17	1	3.66346e-17	45	85				
C12orf56	115749	broad.mit.edu	37	12	64746733	64746733	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:64746733G>C	ENST00000543942.2	-	2	982	c.356C>G	c.(355-357)tCa>tGa	p.S119*	snoU13_ENST00000459220.1_RNA|C12orf56_ENST00000333722.5_Nonsense_Mutation_p.S119*|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	119										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACACTGTTTGACTTTTTACA	0.358																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(355-357)tCa>tGa		chromosome 12 open reading frame 56							115.0	109.0	111.0					12																	64746733		1832	4077	5909	SO:0001587	stop_gained	115749							g.chr12:64746733G>C		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.356C>G	12.37:g.64746733G>C	ENSP00000446101:p.Ser119*		Somatic				C12orf56_ENST00000333722.5_Nonsense_Mutation_p.S119*|RPS11P6_ENST00000535684.1_RNA	p.S119*	NM_001170633.1	NP_001164104.1	WXS	Illumina GAIIx	Phase_I	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	2	982	-			119						Nonsense_Mutation	SNP	ENST00000543942.2	37	c.356C>G		.	.	.	.	.	.	.	.	.	.	G	15.71	2.914533	0.52546	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716;ENST00000543259	.	.	.	4.27	2.37	0.29283	.	0.715135	0.11923	N	0.516457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.0E-4	4.5572	0.12141	0.1133:0.0:0.6662:0.2205	.	.	.	.	X	119;119;119;106	.	.	S	-	2	0	C12orf56	63033000	0.950000	0.32346	0.047000	0.18901	0.014000	0.08584	2.483000	0.45233	1.113000	0.41760	0.655000	0.94253	TCA		0.358	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		9	255	0	0	0	1	0	9	255				
CYP4V2	285440	broad.mit.edu	37	4	187118127	187118127	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:187118127G>T	ENST00000378802.4	+	4	751	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	149					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GGAGAAAGATGTTAACACCCA	0.323																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(445-447)atG>atT		cytochrome P450, family 4, subfamily V, polypeptide 2							76.0	81.0	79.0					4																	187118127		2203	4298	6501	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187118127G>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.447G>T	4.37:g.187118127G>T	ENSP00000368079:p.Met149Ile		Somatic					p.M149I	NM_207352.3	NP_997235.3	WXS	Illumina GAIIx	Phase_I	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	4	751	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	149					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.447G>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630773	0.46944	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.67523	-0.27	5.42	5.42	0.78866	.	0.071449	0.85682	D	0.000000	T	0.56247	0.1972	N	0.21324	0.655	0.80722	D	1	B	0.32526	0.374	B	0.37091	0.241	T	0.51252	-0.8729	10	0.10902	T	0.67	.	19.179	0.93615	0.0:0.0:1.0:0.0	.	149	Q6ZWL3	CP4V2_HUMAN	I	149;127	ENSP00000368079:M149I	ENSP00000274118:M127I	M	+	3	0	CYP4V2	187355121	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	6.253000	0.72453	2.698000	0.92095	0.655000	0.94253	ATG		0.323	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		5	43	1	0	0.0215528	1	0.0215528	5	43				
NAPSA	9476	broad.mit.edu	37	19	50864253	50864253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:50864253C>T	ENST00000253719.2	-	5	821	c.613G>A	c.(613-615)Gta>Ata	p.V205I	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	205					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCACCAGTACATCCATCGGG	0.527																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(613-615)Gta>Ata		napsin A aspartic peptidase							75.0	70.0	72.0					19																	50864253		2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864253C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.613G>A	19.37:g.50864253C>T	ENSP00000253719:p.Val205Ile		Somatic				NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.V205I	NM_004851.1	NP_004842.1	WXS	Illumina GAIIx	Phase_I	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	821	-		all_neural(266;0.057)	205					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.613G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758256	0.31137	.	.	ENSG00000131400	ENST00000253719	T	0.57107	0.42	3.88	-4.78	0.03209	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	2.044320	0.02555	N	0.096086	T	0.34919	0.0914	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.28459	-1.0043	10	0.66056	D	0.02	.	3.8498	0.08949	0.2644:0.3703:0.0:0.3652	.	205	O96009	NAPSA_HUMAN	I	205	ENSP00000253719:V205I	ENSP00000253719:V205I	V	-	1	0	NAPSA	55556065	0.000000	0.05858	0.001000	0.08648	0.694000	0.40290	0.168000	0.16622	-0.708000	0.05015	0.491000	0.48974	GTA		0.527	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		27	68	0	0	0	1	0	27	68				
PTPRR	5801	broad.mit.edu	37	12	71094989	71094989	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71094989G>A	ENST00000283228.2	-	7	1574	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	PTPRR_ENST00000378778.1_Silent_p.A168A|PTPRR_ENST00000342084.4_Silent_p.A262A|PTPRR_ENST00000549308.1_Silent_p.A129A|PTPRR_ENST00000440835.2_Silent_p.A129A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	374					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAATTCGGCTGGCTGACTGCA	0.453																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1120-1122)gcC>gcT		protein tyrosine phosphatase, receptor type, R							172.0	153.0	160.0					12																	71094989		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71094989G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1122C>T	12.37:g.71094989G>A			Somatic				PTPRR_ENST00000378778.1_Silent_p.A168A|PTPRR_ENST00000440835.2_Silent_p.A129A|PTPRR_ENST00000342084.4_Silent_p.A262A|PTPRR_ENST00000549308.1_Silent_p.A129A	p.A374A	NM_002849.3	NP_002840.2	WXS	Illumina GAIIx	Phase_I	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1574	-			374					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.1122C>T	CCDS8998.1																																																																																				0.453	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		287	321	0	0	0	1	0	287	321				
RAP2B	5912	broad.mit.edu	37	3	152880516	152880516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:152880516G>A	ENST00000323534.2	+	1	488	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	12					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGGGCTCGGGCGGCGTGGG	0.667																																						ENST00000323534.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(34-36)Ggc>Agc		RAP2B, member of RAS oncogene family							45.0	44.0	44.0					3																	152880516		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880516G>A		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.34G>A	3.37:g.152880516G>A	ENSP00000319096:p.Gly12Ser		Somatic					p.G12S	NM_002886.2	NP_002877.2	WXS	Illumina GAIIx	Phase_I	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	488	+			12					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.34G>A	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590791	0.86851	.	.	ENSG00000181467	ENST00000323534	T	0.76316	-1.01	5.14	3.3	0.37823	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.79381	0.4436	N	0.21545	0.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79729	-0.1681	10	0.72032	D	0.01	.	12.0719	0.53622	0.0:0.0:0.6864:0.3136	.	12	P61225	RAP2B_HUMAN	S	12	ENSP00000319096:G12S	ENSP00000319096:G12S	G	+	1	0	RAP2B	154363206	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.462000	0.73526	0.517000	0.28361	0.563000	0.77884	GGC		0.667	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		26	29	0	0	0	1	0	26	29				
IQCA1	79781	broad.mit.edu	37	2	237272426	237272426	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:237272426G>A	ENST00000409907.3	-	15	2140	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	IQCA1_ENST00000431676.2_Silent_p.F581F|IQCA1_ENST00000309507.5_Silent_p.F619F	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	622							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCATACCTTGAAGACTGCAT	0.448																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(1864-1866)ttC>ttT		IQ motif containing with AAA domain 1							142.0	137.0	139.0					2																	237272426		1945	4138	6083	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237272426G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1866C>T	2.37:g.237272426G>A			Somatic				IQCA1_ENST00000309507.5_Silent_p.F619F|IQCA1_ENST00000431676.2_Silent_p.F581F	p.F622F	NM_024726.4	NP_079002.3	WXS	Illumina GAIIx	Phase_I	Q86XH1	IQCA1_HUMAN			15	2140	-			622					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.1866C>T	CCDS46549.1																																																																																				0.448	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		15	98	0	0	0	1	0	15	98				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	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																																																			84809							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			Somatic								WXS	Illumina GAIIx	Phase_I					0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	26	0	0	0	1	0	5	26				
CPVL	54504	broad.mit.edu	37	7	29126137	29126137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126137G>A	ENST00000409850.1	-	11	1218	c.572C>T	c.(571-573)cCt>cTt	p.P191L	AC007096.1_ENST00000411120.1_RNA|CPVL_ENST00000396276.3_Missense_Mutation_p.P191L|CPVL_ENST00000265394.5_Missense_Mutation_p.P191L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	191						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTATATTCAGGAAATATCTG	0.338																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(571-573)cCt>cTt		carboxypeptidase, vitellogenic-like							72.0	77.0	75.0					7																	29126137		2203	4298	6501	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29126137G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.572C>T	7.37:g.29126137G>A	ENSP00000387164:p.Pro191Leu		Somatic				CPVL_ENST00000396276.3_Missense_Mutation_p.P191L|CPVL_ENST00000265394.5_Missense_Mutation_p.P191L	p.P191L			WXS	Illumina GAIIx	Phase_I	Q9H3G5	CPVL_HUMAN			11	1218	-			191					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.572C>T	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805880	0.50421	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.8	5.8	0.92144	.	0.162786	0.53938	D	0.000047	D	0.96580	0.8884	H	0.98155	4.16	0.80722	D	1	D	0.53312	0.959	P	0.57720	0.826	D	0.97493	1.0055	10	0.87932	D	0	-0.0305	14.2495	0.66011	0.0729:0.0:0.9271:0.0	.	191	Q9H3G5	CPVL_HUMAN	L	191;191;191;75;121;75;121	ENSP00000265394:P191L;ENSP00000379572:P191L;ENSP00000387164:P191L;ENSP00000409036:P121L;ENSP00000417015:P75L;ENSP00000395690:P121L	ENSP00000265394:P191L	P	-	2	0	CPVL	29092662	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	4.047000	0.57383	2.748000	0.94277	0.655000	0.94253	CCT		0.338	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		12	479	0	0	0	1	0	12	479				
KRT5	3852	broad.mit.edu	37	12	52913802	52913802	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:52913802G>A	ENST00000252242.4	-	1	669	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	93	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		agccatagccgcctccagcac	0.617																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(277-279)ggC>ggT		keratin 5							95.0	107.0	103.0					12																	52913802		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913802G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.279C>T	12.37:g.52913802G>A			Somatic					p.G93G	NM_000424.3	NP_000415.2	WXS	Illumina GAIIx	Phase_I	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	669	-			93			Gly-rich.|Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.279C>T	CCDS8830.1																																																																																				0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			4	121	0	0	0	1	0	4	121				
SSUH2	51066	broad.mit.edu	37	3	8661621	8661621	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:8661621C>T	ENST00000317371.4	-	19	2220	c.995G>A	c.(994-996)gGc>gAc	p.G332D	SSUH2_ENST00000415132.1_3'UTR|SSUH2_ENST00000544814.1_Missense_Mutation_p.G354D|SSUH2_ENST00000341795.3_Missense_Mutation_p.G332D			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	332						cytoplasm (GO:0005737)											GTGGTCAGTGCCATAGATGTA	0.507																																						ENST00000317371.4																			0											c.(994-996)gGc>gAc		ssu-2 homolog (C. elegans)							174.0	150.0	158.0					3																	8661621		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8661621C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.995G>A	3.37:g.8661621C>T	ENSP00000324551:p.Gly332Asp		Somatic				SSUH2_ENST00000544814.1_Missense_Mutation_p.G354D|SSUH2_ENST00000341795.3_Missense_Mutation_p.G332D|SSUH2_ENST00000415132.1_3'UTR	p.G332D			WXS	Illumina GAIIx	Phase_I					19	2220	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.995G>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458916	0.84317	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	T;T;T	0.80909	-1.36;-1.36;-1.43	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.88782	0.6530	M	0.73430	2.235	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89987	0.4105	10	0.87932	D	0	-19.9497	13.9457	0.64082	0.0:1.0:0.0:0.0	.	354;332	F5H2S5;Q9Y2M2	.;CC032_HUMAN	D	332;332;354	ENSP00000339150:G332D;ENSP00000324551:G332D;ENSP00000439378:G354D	ENSP00000324551:G332D	G	-	2	0	C3orf32	8636621	0.994000	0.37717	1.000000	0.80357	0.907000	0.53573	3.469000	0.53093	2.335000	0.79485	0.467000	0.42956	GGC		0.507	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		24	55	0	0	0	1	0	24	55				
DSG1	1828	broad.mit.edu	37	18	28923927	28923927	+	Silent	SNP	C	C	T	rs548157114|rs398122400		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:28923927C>T	ENST00000257192.4	+	13	2072	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_5'UTR|RNU6-167P_ENST00000384292.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	620					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCTGATAACGCAAATATAA	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.001		0.0	False		,,,				2504	0.0					ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1858-1860)aaC>aaT		desmoglein 1							122.0	112.0	115.0					18																	28923927		2203	4297	6500	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923927C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1860C>T	18.37:g.28923927C>T			Somatic				DSG1_ENST00000462981.2_5'UTR|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	p.N620N	NM_001942.2	NP_001933.2	WXS	Illumina GAIIx	Phase_I	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		13	2072	+			620					B7Z845	Silent	SNP	ENST00000257192.4	37	c.1860C>T	CCDS11896.1																																																																																				0.323	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		7	38	0	0	0	1	0	7	38				
SSTR4	6754	broad.mit.edu	37	20	23016235	23016235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr20:23016235C>T	ENST00000255008.3	+	1	179	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	39					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTggcggggcccggggacgc	0.736																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(115-117)Ccc>Tcc		somatostatin receptor 4							20.0	29.0	26.0					20																	23016235		2079	4219	6298	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016235C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.115C>T	20.37:g.23016235C>T	ENSP00000255008:p.Pro39Ser		Somatic				RP4-753D10.3_ENST00000440921.1_RNA	p.P39S	NM_001052.2	NP_001043.2	WXS	Illumina GAIIx	Phase_I	P31391	SSR4_HUMAN			1	179	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		39					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.115C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798153	0.02862	.	.	ENSG00000132671	ENST00000255008	T	0.67171	-0.25	3.31	-6.62	0.01813	.	.	.	.	.	T	0.25754	0.0627	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	9	0.07482	T	0.82	.	0.0477	0.00010	0.2661:0.2322:0.2181:0.2836	.	39	P31391	SSR4_HUMAN	S	39	ENSP00000255008:P39S	ENSP00000255008:P39S	P	+	1	0	SSTR4	22964235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.275000	0.02817	-2.048000	0.00907	-1.443000	0.01068	CCC		0.736	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			28	57	0	0	0	1	0	28	57				
RNF128	79589	broad.mit.edu	37	X	105937389	105937389	+	Missense_Mutation	SNP	G	G	A	rs146627932		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:105937389G>A	ENST00000324342.3	+	1	322	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAATGTGGCGTTTATGGATT	0.398																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(157-159)Gtt>Att		ring finger protein 128, E3 ubiquitin protein ligase		G	ILE/VAL	1,3834		0,1,1631,571	174.0	147.0	156.0		157	5.0	1.0	X	dbSNP_134	156	1,6727		0,1,2427,1872	yes	missense	RNF128	NM_024539.3	29	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		53/403	105937389	2,10561	2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937389G>A	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.157G>A	X.37:g.105937389G>A	ENSP00000316127:p.Val53Ile		Somatic					p.V53I	NM_024539.3	NP_078815.3	WXS	Illumina GAIIx	Phase_I	Q8TEB7	RN128_HUMAN			1	322	+			70					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.157G>A	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979554	0.18812	2.61E-4	1.49E-4	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.30981	1.51;2.91	6.02	4.99	0.66335	.	.	.	.	.	T	0.13200	0.0320	N	0.14661	0.345	0.80722	D	1	P	0.37370	0.592	B	0.27262	0.078	T	0.09618	-1.0666	9	0.17369	T	0.5	.	7.8295	0.29334	0.0971:0.2696:0.6333:0.0	.	53	Q8TEB7-2	.	I	26;53	ENSP00000412610:V26I;ENSP00000316127:V53I	ENSP00000316127:V53I	V	+	1	0	RNF128	105824045	0.956000	0.32656	1.000000	0.80357	0.978000	0.69477	1.486000	0.35530	2.550000	0.86006	0.594000	0.82650	GTT		0.398	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		12	117	0	0	0	1	0	12	117				
JAZF1	221895	broad.mit.edu	37	7	27880439	27880439	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880439C>T	ENST00000283928.5	-	4	598	c.433G>A	c.(433-435)Gat>Aat	p.D145N	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	145					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CAGGACTCATCGCTGTCCGAC	0.577			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(433-435)Gat>Aat		JAZF zinc finger 1							204.0	150.0	168.0					7																	27880439		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27880439C>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.433G>A	7.37:g.27880439C>T	ENSP00000283928:p.Asp145Asn		Somatic				JAZF1_ENST00000466516.1_5'UTR	p.D145N	NM_175061.3	NP_778231.2	WXS	Illumina GAIIx	Phase_I	Q86VZ6	JAZF1_HUMAN			4	598	-			145					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.433G>A	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719083	0.68844	.	.	ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620	T	0.77877	-1.13	5.95	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	N	0.25286	0.73	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.72984	-0.4125	10	0.08837	T	0.75	-21.2153	15.1317	0.72530	0.0:0.9325:0.0:0.0675	.	145	Q86VZ6	JAZF1_HUMAN	N	145;112;121	ENSP00000283928:D145N	ENSP00000283928:D145N	D	-	1	0	JAZF1	27846964	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.245000	0.78237	1.536000	0.49237	-0.251000	0.11542	GAT		0.577	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		85	3424	0	0	0	1	0	85	3424				
ARID2	196528	broad.mit.edu	37	12	46231286	46231286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231286G>A	ENST00000334344.6	+	10	1298	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	ARID2_ENST00000444670.1_Missense_Mutation_p.E5K|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E227K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	376					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E376*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCAGGCATGGAAATTTTGGG	0.303			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		1	Substitution - Nonsense(1)	p.E376*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1126-1128)Gaa>Aaa		AT rich interactive domain 2 (ARID, RFX-like)							88.0	88.0	88.0					12																	46231286		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231286G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1126G>A	12.37:g.46231286G>A	ENSP00000335044:p.Glu376Lys		Somatic				ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E227K|ARID2_ENST00000444670.1_Missense_Mutation_p.E5K	p.E376K	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	10	1298	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	376					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1126G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323296	0.81580	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.49139	0.79;0.79	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	M	0.76838	2.35	0.80722	D	1	D;D;D	0.69078	0.996;0.991;0.997	D;D;D	0.77557	0.99;0.964;0.98	T	0.75045	-0.3456	10	0.87932	D	0	-13.8766	19.024	0.92925	0.0:0.0:1.0:0.0	.	376;227;376	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	K	376;227;5	ENSP00000335044:E376K;ENSP00000415650:E227K	ENSP00000335044:E376K	E	+	1	0	ARID2	44517553	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	9.869000	0.99810	2.486000	0.83907	0.313000	0.20887	GAA		0.303	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		4	69	0	0	0	1	0	4	69				
ARID2	196528	broad.mit.edu	37	12	46231295	46231295	+	Missense_Mutation	SNP	G	G	C	rs549448155		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231295G>C	ENST00000334344.6	+	10	1307	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	ARID2_ENST00000444670.1_Missense_Mutation_p.G8R|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G230R	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	379					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAAATTTTGGGAAATCTTTG	0.318			"""N, S, F"""		hepatocellular carcinoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		18792	0.001		0.0	False		,,,				2504	0.0					ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1135-1137)Gga>Cga		AT rich interactive domain 2 (ARID, RFX-like)							92.0	91.0	91.0					12																	46231295		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231295G>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1135G>C	12.37:g.46231295G>C	ENSP00000335044:p.Gly379Arg		Somatic				ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G230R|ARID2_ENST00000444670.1_Missense_Mutation_p.G8R	p.G379R	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	10	1307	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	379					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1135G>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009540	0.75046	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.53423	0.62;0.62	5.33	5.33	0.75918	.	0.059231	0.64402	D	0.000002	T	0.61085	0.2319	L	0.50333	1.59	0.80722	D	1	D;P;P	0.57899	0.981;0.773;0.954	P;P;P	0.58970	0.849;0.491;0.784	T	0.60052	-0.7338	10	0.46703	T	0.11	-8.3064	19.024	0.92925	0.0:0.0:1.0:0.0	.	379;230;379	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	R	379;230;8	ENSP00000335044:G379R;ENSP00000415650:G230R	ENSP00000335044:G379R	G	+	1	0	ARID2	44517562	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.869000	0.99810	2.486000	0.83907	0.313000	0.20887	GGA		0.318	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		4	72	0	0	0	1	0	4	72				
PTN	5764	broad.mit.edu	37	7	136938315	136938315	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:136938315C>T	ENST00000348225.2	-	3	612	c.185G>A	c.(184-186)tGt>tAt	p.C62Y	PTN_ENST00000393083.2_Missense_Mutation_p.C62Y	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	62					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GCCCAGCCCACAGTCTCCACT	0.498																																						ENST00000348225.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(184-186)tGt>tAt		pleiotrophin							95.0	81.0	86.0					7																	136938315		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136938315C>T	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.185G>A	7.37:g.136938315C>T	ENSP00000341170:p.Cys62Tyr		Somatic				PTN_ENST00000393083.2_Missense_Mutation_p.C62Y	p.C62Y	NM_002825.5	NP_002816.1	WXS	Illumina GAIIx	Phase_I	P21246	PTN_HUMAN			3	612	-			62					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.185G>A	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672320	0.88348	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.65	5.65	0.86999	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.80402	-0.1397	9	0.87932	D	0	-8.7821	19.733	0.96192	0.0:1.0:0.0:0.0	.	62;62	C9JR52;P21246	.;PTN_HUMAN	Y	62	.	ENSP00000341170:C62Y	C	-	2	0	PTN	136588855	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.613000	0.82986	2.665000	0.90641	0.585000	0.79938	TGT		0.498	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		26	50	0	0	0	1	0	26	50				
SHROOM4	57477	broad.mit.edu	37	X	50378311	50378311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:50378311C>A	ENST00000289292.7	-	4	1045	c.762G>T	c.(760-762)atG>atT	p.M254I	SHROOM4_ENST00000460112.3_Missense_Mutation_p.M138I|SHROOM4_ENST00000376020.2_Missense_Mutation_p.M254I			Q9ULL8	SHRM4_HUMAN	shroom family member 4	254					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACGGGATGACATCTGAGAGC	0.652																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(760-762)atG>atT		shroom family member 4							16.0	13.0	14.0					X																	50378311		2200	4295	6495	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50378311C>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.762G>T	X.37:g.50378311C>A	ENSP00000289292:p.Met254Ile		Somatic				SHROOM4_ENST00000289292.7_Missense_Mutation_p.M254I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.M138I	p.M254I	NM_020717.3	NP_065768.2	WXS	Illumina GAIIx	Phase_I	Q9ULL8	SHRM4_HUMAN			4	787	-	Ovarian(276;0.236)		254					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.762G>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	3.636	-0.074464	0.07184	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.13657	2.98;2.98;2.57	5.77	1.32	0.21799	.	0.608574	0.14748	N	0.300755	T	0.07458	0.0188	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	10	0.33141	T	0.24	.	3.4972	0.07659	0.2599:0.4345:0.0:0.3056	.	254	Q9ULL8	SHRM4_HUMAN	I	254;254;138	ENSP00000289292:M254I;ENSP00000365188:M254I;ENSP00000421450:M138I	ENSP00000289292:M254I	M	-	3	0	SHROOM4	50395051	0.012000	0.17670	0.004000	0.12327	0.885000	0.51271	-0.251000	0.08818	0.277000	0.22141	0.600000	0.82982	ATG		0.652	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		6	13	1	0	8.12818e-05	1	8.23107e-05	6	13				
AMIGO1	57463	broad.mit.edu	37	1	110050353	110050353	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:110050353G>A	ENST00000369864.4	-	2	1531	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	AMIGO1_ENST00000369862.1_Silent_p.T394T					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCGGCAAGGGGTGAGGTATA	0.547																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1180-1182)acC>acT		adhesion molecule with Ig-like domain 1							93.0	86.0	88.0					1																	110050353		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050353G>A		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1182C>T	1.37:g.110050353G>A			Somatic				AMIGO1_ENST00000369862.1_Silent_p.T394T	p.T394T			WXS	Illumina GAIIx	Phase_I	Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1531	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	394						Silent	SNP	ENST00000369864.4	37	c.1182C>T	CCDS30795.1																																																																																				0.547	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		23	54	0	0	0	1	0	23	54				
ACVR2A	92	broad.mit.edu	37	2	148657327	148657327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:148657327G>A	ENST00000241416.7	+	4	1024	c.388G>A	c.(388-390)Gtt>Att	p.V130I	AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.V22I|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V130I	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	130					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTCAAATCCAGTTACACCTAA	0.398																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(388-390)Gtt>Att		activin A receptor, type IIA							286.0	284.0	285.0					2																	148657327		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657327G>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.388G>A	2.37:g.148657327G>A	ENSP00000241416:p.Val130Ile		Somatic				ACVR2A_ENST00000535787.1_Missense_Mutation_p.V22I|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V130I|AC009480.3_ENST00000402410.2_RNA	p.V130I	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	WXS	Illumina GAIIx	Phase_I	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	4	1024	+			130					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.388G>A	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843735	0.32606	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.83914	-1.78;-1.69;-1.78	5.32	5.32	0.75619	.	0.103566	0.64402	D	0.000003	T	0.77398	0.4124	L	0.50333	1.59	0.42372	D	0.992458	B	0.16166	0.016	B	0.14578	0.011	T	0.70850	-0.4760	10	0.14656	T	0.56	.	14.2301	0.65885	0.0:0.0:0.8508:0.1492	.	130	P27037	AVR2A_HUMAN	I	130;22;130	ENSP00000241416:V130I;ENSP00000439988:V22I;ENSP00000384338:V130I	ENSP00000241416:V130I	V	+	1	0	ACVR2A	148373797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.449000	0.66619	2.656000	0.90262	0.650000	0.86243	GTT		0.398	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		133	252	0	0	0	1	0	133	252				
KRTAP1-5	83895	broad.mit.edu	37	17	39183089	39183089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:39183089C>T	ENST00000361883.5	-	1	365	c.319G>A	c.(319-321)Ggc>Agc	p.G107S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	107	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CCACTGCTGCCCTCCTGGCCA	0.637																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(319-321)Ggc>Agc		keratin associated protein 1-5							21.0	27.0	25.0					17																	39183089		2111	4245	6356	SO:0001583	missense	83895					keratin filament		g.chr17:39183089C>T	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.319G>A	17.37:g.39183089C>T	ENSP00000355302:p.Gly107Ser		Somatic					p.G107S	NM_031957.1	NP_114163.1	WXS	Illumina GAIIx	Phase_I	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	365	-		Breast(137;0.00043)	107			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.319G>A	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228351	0.06022	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.45668	0.89	4.88	1.68	0.24146	.	.	.	.	.	T	0.19765	0.0475	N	0.16307	0.4	0.09310	N	1	B	0.17268	0.021	B	0.20767	0.031	T	0.32134	-0.9918	9	0.02654	T	1	.	4.7647	0.13127	0.1894:0.6243:0.0:0.1863	.	107	Q9BYS1	KRA15_HUMAN	S	107;97	ENSP00000355302:G107S	ENSP00000355302:G107S	G	-	1	0	KRTAP1-5	36436615	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.011000	0.12721	0.277000	0.22141	0.561000	0.74099	GGC		0.637	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			11	34	0	0	0	1	0	11	34				
PLEKHG4B	153478	broad.mit.edu	37	5	161988	161988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:161988G>A	ENST00000283426.6	+	10	1560	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	504							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGCGCCGTGGTCAGCCA	0.617																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1510-1512)Gtg>Atg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							86.0	76.0	80.0					5																	161988		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161988G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1510G>A	5.37:g.161988G>A	ENSP00000283426:p.Val504Met		Somatic					p.V504M	NM_052909.3	NP_443141.3	WXS	Illumina GAIIx	Phase_I	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1560	+			504						Missense_Mutation	SNP	ENST00000283426.6	37	c.1510G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217710	0.06101	.	.	ENSG00000153404	ENST00000283426	D	0.93247	-3.19	2.49	-4.98	0.03019	.	.	.	.	.	T	0.77123	0.4084	N	0.02011	-0.69	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.65837	-0.6071	9	0.30078	T	0.28	.	5.3603	0.16083	0.65:0.165:0.185:0.0	.	504	Q96PX9	PKH4B_HUMAN	M	504	ENSP00000283426:V504M	ENSP00000283426:V504M	V	+	1	0	PLEKHG4B	214988	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.320000	0.08028	-1.664000	0.01479	-0.460000	0.05396	GTG		0.617	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		28	50	0	0	0	1	0	28	50				
SH2D1A	4068	broad.mit.edu	37	X	123480556	123480556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123480556G>T	ENST00000371139.4	+	1	363	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	SH2D1A_ENST00000491950.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000477673.2_Missense_Mutation_p.A22S|SH2D1A_ENST00000360027.4_Missense_Mutation_p.A22S	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	22	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCCTGCTTGCCACTGGGCT	0.592																																						ENST00000371139.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	GRCh37	CM056699	SH2D1A	M		c.(64-66)Gcc>Tcc		SH2 domain containing 1A							137.0	105.0	116.0					X																	123480556		2203	4300	6503	SO:0001583	missense	4068				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123480556G>T	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.64G>T	X.37:g.123480556G>T	ENSP00000360181:p.Ala22Ser		Somatic				SH2D1A_ENST00000477673.2_Missense_Mutation_p.A22S|SH2D1A_ENST00000360027.4_Missense_Mutation_p.A22S|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	p.A22S	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	WXS	Illumina GAIIx	Phase_I	O60880	SH21A_HUMAN			1	363	+			22			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.64G>T	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275153	0.23307	.	.	ENSG00000183918	ENST00000371139;ENST00000360027;ENST00000394475	D;D	0.88046	-2.33;-2.33	5.51	4.65	0.58169	SH2 motif (4);	0.401457	0.27778	N	0.017885	T	0.73140	0.3549	N	0.13043	0.29	0.30897	N	0.72971	B;B	0.18610	0.012;0.029	B;B	0.17979	0.012;0.02	T	0.61783	-0.6992	10	0.06625	T	0.88	-12.883	10.8975	0.47031	0.0932:0.0:0.9068:0.0	.	22;22	O60880-4;O60880	.;SH21A_HUMAN	S	22	ENSP00000360181:A22S;ENSP00000353126:A22S	ENSP00000353126:A22S	A	+	1	0	SH2D1A	123308237	0.366000	0.25014	0.114000	0.21550	0.944000	0.59088	1.847000	0.39299	1.083000	0.41159	0.513000	0.50165	GCC		0.592	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		33	74	1	0	2.46105e-21	1	2.69704e-21	33	74				
LTN1	26046	broad.mit.edu	37	21	30338725	30338725	+	Missense_Mutation	SNP	C	C	T	rs369102162		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr21:30338725C>T	ENST00000361371.5	-	10	2167	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	LTN1_ENST00000389194.2_Missense_Mutation_p.M742I|LTN1_ENST00000389195.2_Missense_Mutation_p.M742I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	696					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTTTTCTTTCCATATCATTGT	0.368																																						ENST00000389194.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(2224-2226)atG>atA		listerin E3 ubiquitin protein ligase 1		C	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	89.0	91.0	90.0		2226	2.4	0.7	21		90	0,8600		0,0,4300	no	missense	LTN1	NM_015565.2	10	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	742/1813	30338725	1,13005	2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30338725C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2088G>A	21.37:g.30338725C>T	ENSP00000354977:p.Met696Ile		Somatic				LTN1_ENST00000389195.2_Missense_Mutation_p.M742I|LTN1_ENST00000361371.5_Missense_Mutation_p.M696I	p.M742I	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			10	2231	-			696					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.2226G>A		.	.	.	.	.	.	.	.	.	.	C	11.02	1.516616	0.27123	2.27E-4	0.0	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.65364	2.32;2.33;-0.15	5.13	2.36	0.29203	.	1.252370	0.04844	N	0.441128	T	0.43523	0.1251	N	0.14661	0.345	0.20764	N	0.99985	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	10	0.42905	T	0.14	.	3.4077	0.07347	0.2753:0.4069:0.0:0.3178	.	696	O94822	LTN1_HUMAN	I	742;696;742	ENSP00000373846:M742I;ENSP00000354977:M696I;ENSP00000373847:M742I	ENSP00000354977:M696I	M	-	3	0	LTN1	29260596	0.000000	0.05858	0.735000	0.30896	0.955000	0.61496	-0.477000	0.06583	0.866000	0.35629	0.650000	0.86243	ATG		0.368	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		6	115	0	0	0	1	0	6	115				
FZD9	8326	broad.mit.edu	37	7	72849818	72849818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:72849818G>A	ENST00000344575.3	+	1	1710	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	494					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCCGGAGGCCGGAGGGACTGC	0.647																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1480-1482)cGg>cAg		frizzled family receptor 9							30.0	34.0	33.0					7																	72849818		2202	4299	6501	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849818G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1481G>A	7.37:g.72849818G>A	ENSP00000345785:p.Arg494Gln		Somatic					p.R494Q	NM_003508.2	NP_003499.1	WXS	Illumina GAIIx	Phase_I	O00144	FZD9_HUMAN			1	1710	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	494						Missense_Mutation	SNP	ENST00000344575.3	37	c.1481G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436429	0.25813	.	.	ENSG00000188763	ENST00000344575	D	0.81739	-1.53	4.88	4.88	0.63580	GPCR, family 2-like (1);	0.279999	0.18322	U	0.144780	T	0.64327	0.2588	N	0.17379	0.485	0.37910	D	0.931337	P	0.46987	0.888	B	0.40009	0.316	T	0.65278	-0.6207	10	0.09590	T	0.72	.	12.8503	0.57855	0.0:0.1639:0.8361:0.0	.	494	O00144	FZD9_HUMAN	Q	494	ENSP00000345785:R494Q	ENSP00000345785:R494Q	R	+	2	0	FZD9	72487754	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.765000	0.47621	2.261000	0.74972	0.563000	0.77884	CGG		0.647	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			22	163	0	0	0	1	0	22	163				
PTPRR	5801	broad.mit.edu	37	12	71095000	71095000	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71095000G>A	ENST00000283228.2	-	7	1563	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	PTPRR_ENST00000378778.1_Silent_p.L165L|PTPRR_ENST00000342084.4_Silent_p.L259L|PTPRR_ENST00000549308.1_Silent_p.L126L|PTPRR_ENST00000440835.2_Silent_p.L126L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	371					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCTGACTGCAGATACTCCATT	0.468																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1111-1113)Ctg>Ttg		protein tyrosine phosphatase, receptor type, R							171.0	150.0	157.0					12																	71095000		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71095000G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1111C>T	12.37:g.71095000G>A			Somatic				PTPRR_ENST00000378778.1_Silent_p.L165L|PTPRR_ENST00000440835.2_Silent_p.L126L|PTPRR_ENST00000342084.4_Silent_p.L259L|PTPRR_ENST00000549308.1_Silent_p.L126L	p.L371L	NM_002849.3	NP_002840.2	WXS	Illumina GAIIx	Phase_I	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1563	-			371					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.1111C>T	CCDS8998.1																																																																																				0.468	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		278	321	0	0	0	1	0	278	321				
EGFR	1956	broad.mit.edu	37	7	55223582	55223582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223582G>A	ENST00000275493.2	+	8	1126	c.949G>A	c.(949-951)Gag>Aag	p.E317K	EGFR_ENST00000344576.2_Missense_Mutation_p.E317K|EGFR_ENST00000420316.2_Missense_Mutation_p.E317K|EGFR_ENST00000454757.2_Missense_Mutation_p.E264K|EGFR_ENST00000455089.1_Missense_Mutation_p.E272K|EGFR_ENST00000442591.1_Missense_Mutation_p.E317K|EGFR_ENST00000342916.3_Missense_Mutation_p.E317K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	317					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGACAGCTATGAGATGGAGGA	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(949-951)Gag>Aag		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						53.0	49.0	50.0					7																	55223582		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223582G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.949G>A	7.37:g.55223582G>A	ENSP00000275493:p.Glu317Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	Somatic				EGFR_ENST00000455089.1_Missense_Mutation_p.E272K|EGFR_ENST00000344576.2_Missense_Mutation_p.E317K|EGFR_ENST00000454757.2_Missense_Mutation_p.E264K|EGFR_ENST00000442591.1_Missense_Mutation_p.E317K|EGFR_ENST00000342916.3_Missense_Mutation_p.E317K|EGFR_ENST00000420316.2_Missense_Mutation_p.E317K	p.E317K	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1126	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		317					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.949G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691959	0.88735	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.92831	0.7720	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.993	P;D;D;D;P	0.91635	0.885;0.972;0.999;0.953;0.606	D	0.93358	0.6724	10	0.87932	D	0	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	272;317;317;317;317	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	272;317;187;317;317;317;317;264;111	ENSP00000415559:E272K;ENSP00000342376:E317K;ENSP00000345973:E317K;ENSP00000413843:E317K;ENSP00000275493:E317K;ENSP00000410031:E317K;ENSP00000395243:E264K	ENSP00000275493:E317K	E	+	1	0	EGFR	55191076	1.000000	0.71417	0.979000	0.43373	0.150000	0.21749	9.838000	0.99474	2.655000	0.90218	0.655000	0.94253	GAG		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		79	1220	0	0	0	1	0	79	1220				
OGFRL1	79627	broad.mit.edu	37	6	72011297	72011297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:72011297C>T	ENST00000370435.4	+	7	1035	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	301						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GCGGTTCGCCCAGAAACACTA	0.463																																						ENST00000370435.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						c.(901-903)Cag>Tag		opioid growth factor receptor-like 1							56.0	58.0	57.0					6																	72011297		2203	4300	6503	SO:0001587	stop_gained	79627					membrane	receptor activity	g.chr6:72011297C>T		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.901C>T	6.37:g.72011297C>T	ENSP00000359464:p.Gln301*		Somatic				RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA	p.Q301*	NM_024576.3	NP_078852.3	WXS	Illumina GAIIx	Phase_I	Q5TC84	OGRL1_HUMAN			7	1035	+			301					Q2TAC1|Q8NEQ4|Q9H7B5	Nonsense_Mutation	SNP	ENST00000370435.4	37	c.901C>T	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	C	34	5.411357	0.96072	.	.	ENSG00000119900	ENST00000370435	.	.	.	5.92	5.92	0.95590	.	0.117788	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-23.501	13.5041	0.61474	0.0:0.929:0.0:0.071	.	.	.	.	X	301	.	ENSP00000359464:Q301X	Q	+	1	0	OGFRL1	72068018	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	6.091000	0.71406	2.809000	0.96659	0.467000	0.42956	CAG		0.463	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		27	61	0	0	0	1	0	27	61				
CDH18	1016	broad.mit.edu	37	5	19838956	19838956	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:19838956A>G	ENST00000507958.1	-	5	1130	c.140T>C	c.(139-141)gTc>gCc	p.V47A	CDH18_ENST00000511273.1_Missense_Mutation_p.V47A|CDH18_ENST00000382275.1_Missense_Mutation_p.V47A|CDH18_ENST00000506372.1_Missense_Mutation_p.V47A|CDH18_ENST00000274170.4_Missense_Mutation_p.V47A|CDH18_ENST00000502796.1_Missense_Mutation_p.V47A			Q13634	CAD18_HUMAN	cadherin 18, type 2	47					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACGATGATGGACTTCGGTTTC	0.433																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(139-141)gTc>gCc		cadherin 18, type 2							218.0	180.0	193.0					5																	19838956		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838956A>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.140T>C	5.37:g.19838956A>G	ENSP00000425093:p.Val47Ala		Somatic				CDH18_ENST00000511273.1_Missense_Mutation_p.V47A|CDH18_ENST00000506372.1_Missense_Mutation_p.V47A|CDH18_ENST00000274170.4_Missense_Mutation_p.V47A|CDH18_ENST00000502796.1_Missense_Mutation_p.V47A|CDH18_ENST00000382275.1_Missense_Mutation_p.V47A	p.V47A			WXS	Illumina GAIIx	Phase_I	Q13634	CAD18_HUMAN			5	1130	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		47					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.140T>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628809	0.67015	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.41492	1.28	0.48288	D	0.999624	B;B	0.28512	0.214;0.017	B;B	0.25506	0.061;0.007	T	0.06058	-1.0848	9	.	.	.	.	15.2006	0.73132	1.0:0.0:0.0:0.0	.	47;47	B4DHG6;Q13634	.;CAD18_HUMAN	A	47	ENSP00000371710:V47A;ENSP00000425093:V47A;ENSP00000274170:V47A;ENSP00000424931:V47A;ENSP00000422138:V47A;ENSP00000425854:V47A	.	V	-	2	0	CDH18	19874713	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.918000	0.92759	2.263000	0.75096	0.533000	0.62120	GTC		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		13	30	0	0	0	1	0	13	30				
SLC5A5	6528	broad.mit.edu	37	19	18001745	18001745	+	Missense_Mutation	SNP	G	G	A	rs570968775	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:18001745G>A	ENST00000222248.3	+	14	2049	c.1702G>A	c.(1702-1704)Gca>Aca	p.A568T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	568					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.A568T(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGGACCTCGCACGGCAGAC	0.592													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15903	0.0		0.0	False		,,,				2504	0.0				Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			1	Substitution - Missense(1)	p.A568T(1)	large_intestine(1)	NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1702-1704)Gca>Aca		solute carrier family 5 (sodium/iodide cotransporter), member 5							114.0	111.0	112.0					19																	18001745		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001745G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1702G>A	19.37:g.18001745G>A	ENSP00000222248:p.Ala568Thr		Somatic					p.A568T	NM_000453.2	NP_000444.1	WXS	Illumina GAIIx	Phase_I	Q92911	SC5A5_HUMAN			14	2049	+			568					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1702G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946508	0.18356	.	.	ENSG00000105641	ENST00000222248	D	0.85088	-1.94	4.71	-3.38	0.04883	.	99.577500	0.00166	N	0.000007	T	0.68430	0.3000	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.59611	-0.7422	10	0.10902	T	0.67	.	5.113	0.14819	0.5474:0.0:0.3142:0.1385	.	568	Q92911	SC5A5_HUMAN	T	568	ENSP00000222248:A568T	ENSP00000222248:A568T	A	+	1	0	SLC5A5	17862745	0.000000	0.05858	0.000000	0.03702	0.634000	0.38068	-0.063000	0.11655	-0.811000	0.04369	0.491000	0.48974	GCA		0.592	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			34	163	0	0	0	1	0	34	163				
CCBE1	147372	broad.mit.edu	37	18	57136832	57136832	+	Silent	SNP	G	G	A	rs369006324	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:57136832G>A	ENST00000439986.4	-	4	310	c.273C>T	c.(271-273)gaC>gaT	p.D91D	CCBE1_ENST00000398179.2_De_novo_Start_InFrame	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	91					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGCACAAACGTCGTAATCTG	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21777	0.0		0.0	False		,,,				2504	0.0				NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000398179.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24								collagen and calcium binding EGF domains 1		G		1,4405	2.1+/-5.4	0,1,2202	119.0	119.0	119.0		273	-8.6	0.0	18		119	0,8600		0,0,4300	no	coding-synonymous	CCBE1	NM_133459.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		91/407	57136832	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57136832G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.273C>T	18.37:g.57136832G>A			Somatic				CCBE1_ENST00000439986.4_Silent_p.D91D				WXS	Illumina GAIIx	Phase_I	Q6UXH8	CCBE1_HUMAN			0	62	-		Colorectal(73;0.175)						Q6MZX5|Q86SS2|Q8TF19	Translation_Start_Site	SNP	ENST00000439986.4	37		CCDS32838.1																																																																																				0.552	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		56	181	0	0	0	1	0	56	181				
AZIN2	113451	broad.mit.edu	37	1	33585652	33585652	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:33585652C>T	ENST00000294517.6	+	12	1839	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	ADC_ENST00000373443.3_Silent_p.L418L|ADC_ENST00000398167.1_Silent_p.L438L|ADC_ENST00000373441.1_Silent_p.L438L|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		418					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TAGGGAAGCGCTGCGAAGGCA	0.637																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1252-1254)Ctg>Ttg		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						80.0	62.0	68.0					1																	33585652		2203	4300	6503	SO:0001819	synonymous_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33585652C>T																												ENST00000294517.6:c.1252C>T	1.37:g.33585652C>T			Somatic				ADC_ENST00000373441.1_Silent_p.L438L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Silent_p.L438L|ADC_ENST00000373443.3_Silent_p.L418L	p.L418L	NM_052998.2	NP_443724.1	WXS	Illumina GAIIx	Phase_I	Q96A70	ADC_HUMAN			12	1839	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	418					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	ENST00000294517.6	37	c.1252C>T	CCDS375.1																																																																																				0.637	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			24	44	0	0	0	1	0	24	44				
KSR2	283455	broad.mit.edu	37	12	117962802	117962802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:117962802G>A	ENST00000339824.5	-	14	2801	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	KSR2_ENST00000302438.5_Missense_Mutation_p.R389W|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.R663W			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAATCAGCCGGATGGCCACC	0.597																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1987-1989)Cgg>Tgg		kinase suppressor of ras 2							55.0	58.0	57.0					12																	117962802		2104	4209	6313	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962802G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2074C>T	12.37:g.117962802G>A	ENSP00000339952:p.Arg692Trp		Somatic				KSR2_ENST00000302438.5_Missense_Mutation_p.R389W|KSR2_ENST00000339824.5_Missense_Mutation_p.R692W|KSR2_ENST00000545002.1_5'UTR	p.R663W	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			14	2041	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		692					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1987C>T		.	.	.	.	.	.	.	.	.	.	G	18.76	3.691779	0.68271	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.89875	-2.58;-2.58;-2.58	4.91	1.77	0.24775	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92018	0.7471	M	0.67700	2.07	0.52501	D	0.999954	D	0.89917	1.0	D	0.97110	1.0	D	0.90743	0.4651	10	0.87932	D	0	.	8.735	0.34523	0.076:0.0:0.5682:0.3558	.	692	Q6VAB6	KSR2_HUMAN	W	663;692;389;364	ENSP00000389715:R663W;ENSP00000339952:R692W;ENSP00000305466:R389W	ENSP00000305466:R389W	R	-	1	2	KSR2	116447185	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.312000	0.65792	0.643000	0.30638	-0.199000	0.12753	CGG		0.597	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		14	36	0	0	0	1	0	14	36				
ASIC3	9311	broad.mit.edu	37	7	150749681	150749681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:150749681C>T	ENST00000349064.5	+	11	1736	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ASIC3_ENST00000297512.8_Missense_Mutation_p.P520S|ASIC3_ENST00000357922.4_Silent_p.C493C	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	513					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCTCCCTGTGCCGTCACCAAG	0.632																																						ENST00000349064.5																			0											c.(1537-1539)gCc>gTc		acid-sensing (proton-gated) ion channel 3							182.0	130.0	148.0					7																	150749681		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150749681C>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1538C>T	7.37:g.150749681C>T	ENSP00000344838:p.Ala513Val		Somatic				ASIC3_ENST00000297512.8_Missense_Mutation_p.P520S|ASIC3_ENST00000357922.4_Silent_p.C493C	p.A513V	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	WXS	Illumina GAIIx	Phase_I	Q9UHC3	ACCN3_HUMAN			11	1736	+			513					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.1538C>T	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.808|6.808	0.518163|0.518163	0.13005|0.13005	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000349064|ENST00000297512	T|T	0.67345|0.63913	-0.26|-0.07	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|.	.|.	.|.	.|.	T|T	0.41673|0.41673	0.1169|0.1169	.|.	.|.	.|.	0.23727|0.23727	N|N	0.997001|0.997001	B|B	0.23377|0.30281	0.084|0.275	B|B	0.24155|0.25405	0.051|0.06	T|T	0.10154|0.10154	-1.0642|-1.0642	8|8	0.41790|0.11485	T|T	0.15|0.65	-1.0939|-1.0939	13.0963|13.0963	0.59195|0.59195	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	513|520	Q9UHC3|Q9UHC3-3	ACCN3_HUMAN|.	V|S	513|520	ENSP00000344838:A513V|ENSP00000297512:P520S	ENSP00000344838:A513V|ENSP00000297512:P520S	A|P	+|+	2|1	0|0	ACCN3|ACCN3	150380614|150380614	0.004000|0.004000	0.15560|0.15560	0.766000|0.766000	0.31476|0.31476	0.283000|0.283000	0.27025|0.27025	1.161000|1.161000	0.31773|0.31773	2.546000|2.546000	0.85860|0.85860	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		35	123	0	0	0	1	0	35	123				
ZNF385B	151126	broad.mit.edu	37	2	180634461	180634461	+	Missense_Mutation	SNP	G	G	A	rs146268620		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:180634461G>A	ENST00000410066.1	-	3	625	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	8	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAAAGCCCCGTAGAAAATTT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18186	0.0		0.0	False		,,,				2504	0.0				Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(22-24)Cgg>Tgg		zinc finger protein 385B		G	TRP/ARG	0,4406		0,0,2203	58.0	62.0	61.0		22	2.5	1.0	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF385B	NM_152520.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	8/472	180634461	1,13005	2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634461G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.22C>T	2.37:g.180634461G>A	ENSP00000386845:p.Arg8Trp		Somatic					p.R8W	NM_152520.4	NP_689733.3	WXS	Illumina GAIIx	Phase_I	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		3	625	-			8					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.22C>T	CCDS33339.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.66	1.705707	0.30232	0.0	1.16E-4	ENSG00000144331	ENST00000410066;ENST00000451732;ENST00000438871	T	0.35605	1.3	5.38	2.46	0.29980	.	0.134456	0.33309	N	0.005058	T	0.28632	0.0709	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.47044	0.535	T	0.05194	-1.0900	10	0.87932	D	0	-2.3829	8.8312	0.35085	0.0705:0.0:0.6653:0.2642	.	8	Q569K4	Z385B_HUMAN	W	8	ENSP00000386845:R8W	ENSP00000386845:R8W	R	-	1	2	ZNF385B	180342706	0.300000	0.24435	1.000000	0.80357	0.997000	0.91878	0.607000	0.24209	0.640000	0.30582	0.561000	0.74099	CGG		0.413	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		20	51	0	0	0	1	0	20	51				
F2RL1	2150	broad.mit.edu	37	5	76129250	76129250	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:76129250C>T	ENST00000296677.4	+	2	1024	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	273					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGATCTTCTGCCATGGATGAA	0.483																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(817-819)gCc>gTc		coagulation factor II (thrombin) receptor-like 1							156.0	151.0	153.0					5																	76129250		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129250C>T	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.818C>T	5.37:g.76129250C>T	ENSP00000296677:p.Ala273Val		Somatic					p.A273V	NM_005242.4	NP_005233	WXS	Illumina GAIIx	Phase_I	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1024	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	273					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.818C>T	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009591	0.19277	.	.	ENSG00000164251	ENST00000296677	T	0.38722	1.12	5.44	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.420365	0.26535	N	0.023832	T	0.28499	0.0705	L	0.43923	1.385	0.09310	N	1	B	0.26902	0.163	B	0.23419	0.046	T	0.08229	-1.0732	9	.	.	.	-13.3749	3.3885	0.07281	0.2258:0.5803:0.0:0.1939	.	273	P55085	PAR2_HUMAN	V	273	ENSP00000296677:A273V	.	A	+	2	0	F2RL1	76165006	0.101000	0.21875	0.727000	0.30756	0.482000	0.33219	1.584000	0.36589	2.553000	0.86117	0.655000	0.94253	GCC		0.483	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			7	144	0	0	0	1	0	7	144				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)	Somatic				HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V	p.V49V			WXS	Illumina GAIIx	Phase_I	P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	55	0	0	0	1	0	3	55				
NPY	4852	broad.mit.edu	37	7	24329163	24329163	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329163G>A	ENST00000407573.1	+	4	524	c.234G>A	c.(232-234)ttG>ttA	p.L78L	NPY_ENST00000405982.1_Silent_p.L78L|NPY_ENST00000242152.2_Silent_p.L78L			P01303	NPY_HUMAN	neuropeptide Y	78					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CAGACCTCTTGATGAGAGAAA	0.438																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(232-234)ttG>ttA		neuropeptide Y							127.0	118.0	121.0					7																	24329163		2203	4300	6503	SO:0001819	synonymous_variant	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24329163G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.234G>A	7.37:g.24329163G>A			Somatic				NPY_ENST00000242152.2_Silent_p.L78L|NPY_ENST00000405982.1_Silent_p.L78L	p.L78L			WXS	Illumina GAIIx	Phase_I	P01303	NPY_HUMAN			4	524	+			78						Silent	SNP	ENST00000407573.1	37	c.234G>A	CCDS5387.1																																																																																				0.438	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		257	304	0	0	0	1	0	257	304				
AZGP1P1	646282	broad.mit.edu	37	7	99580896	99580896	+	RNA	SNP	A	A	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:99580896A>T	ENST00000425474.1	+	0	217					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		AGGAAGGCTGAGCCCCTGGGA	0.572																																						ENST00000425474.1																			0																																																			646282							g.chr7:99580896A>T	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99580896A>T			Somatic						NR_036679.1		WXS	Illumina GAIIx	Phase_I					0	217	+									RNA	SNP	ENST00000425474.1	37																																																																																						0.572	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			7	11	0	0	0	1	0	7	11				
ZNF330	27309	broad.mit.edu	37	4	142154882	142154883	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:142154882_142154883delAT	ENST00000262990.4	+	10	930_931	c.702_703delAT	c.(700-705)aaatttfs	p.KF234fs	ZNF330_ENST00000421169.2_Frame_Shift_Del_p.KF174fs	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	234						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GCTCCCTGAAATTTGGCAGGCA	0.416																																						ENST00000262990.4																			0				kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(700-705)aaatttfs		zinc finger protein 330																																				SO:0001589	frameshift_variant	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142154882_142154883delAT	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.702_703delAT	4.37:g.142154882_142154883delAT	ENSP00000262990:p.Lys234fs		Somatic				ZNF330_ENST00000421169.2_Frame_Shift_Del_p.KF174fs	p.KF234fs	NM_014487.4	NP_055302.1	WXS	Illumina GAIIx	Phase_I	Q9Y3S2	ZN330_HUMAN			10	930_931	+	all_hematologic(180;0.162)		234					B2RDA3	Frame_Shift_Del	DEL	ENST00000262990.4	37	c.702_703delAT	CCDS3754.1																																																																																				0.416	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		23	35						23	35	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292109	114292110	+	5'UTR	INS	-	-	CTG	rs545748113|rs528988883	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:114292109_114292110insCTG	ENST00000519065.1	-	0	339_340				RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000522844.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Ins_p.81_82insS|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000521888.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GGCTCCTCCTCctgctgctgct	0.688														365	0.0728834	0.0227	0.1297	5008	,	,		15962	0.0258		0.1034	False		,,,				2504	0.1176					ENST00000398283.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(244-246)agg>agCAGg		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292109_114292110insCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-38->CAG	6.37:g.114292116_114292118dupCTG			Somatic				RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA	p.81_82insS	NM_001527.3	NP_001518.3	WXS	Illumina GAIIx	Phase_I	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	249_250	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Ins	INS	ENST00000519065.1	37	c.245_246insCAG	CCDS43493.2																																																																																				0.688	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			6	4						6	4	---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29126156	29126156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126156delG	ENST00000409850.1	-	11	1199	c.553delC	c.(553-555)cagfs	p.Q185fs	AC007096.1_ENST00000411120.1_RNA|CPVL_ENST00000396276.3_Frame_Shift_Del_p.Q185fs|CPVL_ENST00000265394.5_Frame_Shift_Del_p.Q185fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	185						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGAAAAACTGAATTAGTGCA	0.348																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(553-555)cagfs		carboxypeptidase, vitellogenic-like							73.0	78.0	77.0					7																	29126156		2203	4300	6503	SO:0001589	frameshift_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29126156delG	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.553delC	7.37:g.29126156delG	ENSP00000387164:p.Gln185fs		Somatic				CPVL_ENST00000265394.5_Frame_Shift_Del_p.Q185fs|CPVL_ENST00000396276.3_Frame_Shift_Del_p.Q185fs	p.Q185fs			WXS	Illumina GAIIx	Phase_I	Q9H3G5	CPVL_HUMAN			11	1199	-			185					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Frame_Shift_Del	DEL	ENST00000409850.1	37	c.553delC	CCDS5419.1																																																																																				0.348	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		8	519						8	519	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:31378634_31378635insT	ENST00000297142.3	-	2	570_571	c.248_249insA	c.(247-249)aagfs	p.K83fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	83					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.52																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(247-249)aagfs		neuronal differentiation 6																																				SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378634_31378635insT	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.249dupA	7.37:g.31378642_31378642dupT	ENSP00000297142:p.Lys83fs		Somatic					p.K83fs	NM_022728.2	NP_073565.2	WXS	Illumina GAIIx	Phase_I	Q96NK8	NDF6_HUMAN			2	570_571	-			83					Q548T9|Q9H3H6	Frame_Shift_Ins	INS	ENST00000297142.3	37	c.248_249insA	CCDS5434.1																																																																																				0.520	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		9	1791						9	1791	---	---	---	---
CHCHD2	51142	broad.mit.edu	37	7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:56170668_56170670delGCT	ENST00000395422.3	-	3	497_499	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del	snoU13_ENST00000458988.1_RNA	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	112	CHCH.					mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(334-339)cagcct>cct		coiled-coil-helix-coiled-coil-helix domain containing 2																																				SO:0001651	inframe_deletion	51142					mitochondrion		g.chr7:56170668_56170670delGCT	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.335_337delAGC	7.37:g.56170677_56170679delGCT	ENSP00000378812:p.Gln112del		Somatic					p.Q112del	NM_016139.2	NP_057223.1	WXS	Illumina GAIIx	Phase_I	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	497_499	-	Breast(14;0.214)		112			CHCH.		Q498C3|Q6NZ50	In_Frame_Del	DEL	ENST00000395422.3	37	c.335_337delAGC	CCDS5526.1																																																																																				0.488	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		7	650						7	650	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			643180							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT			Somatic						NR_033416.1		WXS	Illumina GAIIx	Phase_I					0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			9	68						9	68	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						28558							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA			Somatic								WXS	Illumina GAIIx	Phase_I					0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		5	3						5	3	---	---	---	---
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	-	T	rs34047276		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr8:6378797_6378798insT	ENST00000325203.5	-	4	1174_1175	c.700_701insA	c.(700-702)atafs	p.I234fs	ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.I182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.I234fs|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.I234fs|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(700-702)atafs		angiopoietin 2																																				SO:0001589	frameshift_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378797_6378798insT	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.701dupA	8.37:g.6378806_6378806dupT	ENSP00000314897:p.Ile234fs		Somatic				ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.I234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.I182fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.I234fs	p.I234fs			WXS	Illumina GAIIx	Phase_I	O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1174_1175	-		Hepatocellular(245;0.0663)	234					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Frame_Shift_Ins	INS	ENST00000325203.5	37	c.700_701insA	CCDS5958.1																																																																																				0.366	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		7	73						7	73	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(532-534)gagdel		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:592586_592588delGAG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.532_534delGAG	11.37:g.592595_592597delGAG	ENSP00000264555:p.Glu181del		Somatic				PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del	p.E181del	NM_020901.2	NP_065952.2	WXS	Illumina GAIIx	Phase_I	Q9P1Y6	PHRF1_HUMAN			6	660_662	+			181			Poly-Glu.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.532_534delGAG																																																																																					0.616	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	207						7	207	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972048	57972048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57972048delG	ENST00000455537.2	+	23	2735	c.2461delG	c.(2461-2463)gggfs	p.G822fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	822					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAAGACAGTGGGGGGATTCA	0.502																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2461-2463)gggfs		kinesin family member 5A							98.0	97.0	97.0					12																	57972048		2203	4300	6503	SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972048delG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2461delG	12.37:g.57972048delG	ENSP00000408979:p.Gly822fs		Somatic				KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	p.G822fs	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			23	2735	+			822					A6H8M5|Q4LE26	Frame_Shift_Del	DEL	ENST00000455537.2	37	c.2461delG	CCDS8945.1																																																																																				0.502	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	2055						7	2055	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58177051	58177052	+	IGR	INS	-	-	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58177051_58177052insG	ENST00000300209.8	+	0	2563				TSFM_ENST00000540550.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000454289.3_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000350762.5_5'UTR|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.AG87fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.G73fs	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						AGACTTGTGGCGGGGACCTCAA	0.569																																						ENST00000454289.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(217-219)gggfs		Ts translation elongation factor, mitochondrial			,,,	17,4247		0,17,2115					,,,	1.2	1.0			107	33,8221		0,33,4094	no	frameshift,frameshift,frameshift,frameshift	TSFM	NM_005726.5,NM_001172697.1,NM_001172696.1,NM_001172695.1	,,,	0,50,6209	A1A1,A1R,RR		0.3998,0.3987,0.3994	,,,	,,,		50,12468				SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58177051_58177052insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58177055_58177055dupG			Somatic				TSFM_ENST00000540550.1_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.AG87fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000350762.5_5'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.G73fs	p.G73fs	NM_005726.5	NP_005717.3	WXS	Illumina GAIIx	Phase_I	P43897	EFTS_HUMAN			2	429_430	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		73					Q9H749|Q9Y3W2	Frame_Shift_Ins	INS	ENST00000300209.8	37	c.216_217insG	CCDS8957.1																																																																																				0.569	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		12	2786						12	2786	---	---	---	---
AVIL	10677	broad.mit.edu	37	12	58204896	58204896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58204896delC	ENST00000257861.3	-	4	783	c.353delG	c.(352-354)ggtfs	p.G118fs	AVIL_ENST00000537081.1_Frame_Shift_Del_p.G111fs	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	118	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGCGACACCCCCCTGCTT	0.512																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(331-333)ggtfs		advillin							204.0	168.0	180.0					12																	58204896		2203	4300	6503	SO:0001589	frameshift_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58204896delC	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.353delG	12.37:g.58204896delC	ENSP00000257861:p.Gly118fs		Somatic				AVIL_ENST00000257861.3_Frame_Shift_Del_p.G118fs	p.G111fs			WXS	Illumina GAIIx	Phase_I	O75366	AVIL_HUMAN			4	331	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		118			Core (By similarity).|Polyphosphoinositide binding (By similarity).		B2RAU7|Q2NKM9	Frame_Shift_Del	DEL	ENST00000257861.3	37	c.332delG	CCDS8959.1																																																																																				0.512	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		7	1043						7	1043	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs553703325|rs556445214|rs200317113	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr14:77493762_77493767delTGCTGC	ENST00000238647.3	-	1	1267_1272	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	123	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714														4658	0.930112	0.9297	0.9769	5008	,	,		7189	0.872		0.9712	False		,,,				2504	0.9151					ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(367-375)cagcagcaa>caa		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493762_77493767delTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.369_374delGCAGCA	14.37:g.77493768_77493773delTGCTGC	ENSP00000238647:p.Gln125_Gln126del		Somatic					p.123_125QQQ>Q	NM_024496.3	NP_078772.1	WXS	Illumina GAIIx	Phase_I	Q9H1B7	I2BPL_HUMAN			1	1267_1272	-			123			Poly-Gln.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.369_374delGCAGCA	CCDS9854.1																																																																																				0.714	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		3	3						3	3	---	---	---	---
AMN	81693	broad.mit.edu	37	14	103396394	103396394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr14:103396394delG	ENST00000299155.5	+	9	1010	c.977delG	c.(976-978)cggfs	p.R326fs		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	326					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGCTGGCCCGGGCCCTCCTG	0.761																																						ENST00000299155.5																			0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(976-978)cggfs		amnion associated transmembrane protein	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						5.0	6.0	6.0					14																	103396394		1899	3782	5681	SO:0001589	frameshift_variant	81693				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		g.chr14:103396394delG	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.977delG	14.37:g.103396394delG	ENSP00000299155:p.Arg326fs		Somatic					p.R326fs	NM_030943.3	NP_112205.2	WXS	Illumina GAIIx	Phase_I	Q9BXJ7	AMNLS_HUMAN		Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	9	1010	+			326					Q6UX83	Frame_Shift_Del	DEL	ENST00000299155.5	37	c.977delG	CCDS9977.1																																																																																				0.761	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			2	4						2	4	---	---	---	---
PCSK1N	27344	broad.mit.edu	37	X	48690745	48690745	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:48690745delG	ENST00000218230.5	-	2	221	c.121delC	c.(121-123)cgcfs	p.R41fs	PCSK1N_ENST00000478242.1_5'UTR	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	41	ProSAAS(1-180). {ECO:0000250}.				neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)	endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)										CTTAGGCCGCGGGGCTCCTGC	0.682																																						ENST00000218230.5																			0											c.(121-123)cgcfs		proprotein convertase subtilisin/kexin type 1 inhibitor							2.0	2.0	2.0					X																	48690745		1369	2677	4046	SO:0001589	frameshift_variant	27344				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding	g.chrX:48690745delG	AF181562	CCDS14307.1	Xp11.23	2008-07-28			ENSG00000102109	ENSG00000102109			17301	protein-coding gene	gene with protein product		300399				10632593	Standard	NM_013271		Approved	SAAS	uc004dkz.4	Q9UHG2	OTTHUMG00000034502	ENST00000218230.5:c.121delC	X.37:g.48690745delG	ENSP00000218230:p.Arg41fs		Somatic				PCSK1N_ENST00000478242.1_5'UTR	p.R41fs	NM_013271.2	NP_037403.1	WXS	Illumina GAIIx	Phase_I	Q9UHG2	PCSK1_HUMAN			2	221	-			41			ProSAAS(1-180) (By similarity).		Q4VC04	Frame_Shift_Del	DEL	ENST00000218230.5	37	c.121delC	CCDS14307.1																																																																																				0.682	PCSK1N-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083444.1	NM_013271		2	4						2	4	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65414952	65414952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:65414952delG	ENST00000343002.2	+	8	2046	c.1382delG	c.(1381-1383)cggfs	p.R461fs	HEPH_ENST00000441993.2_Frame_Shift_Del_p.R464fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.R464fs|HEPH_ENST00000519389.1_Frame_Shift_Del_p.R515fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.R194fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.R464fs			Q9BQS7	HEPH_HUMAN	hephaestin	461	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCAGTGATCCGGGCTGAGGTG	0.502																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1543-1545)cggfs		hephaestin							77.0	72.0	74.0					X																	65414952		2203	4300	6503	SO:0001589	frameshift_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65414952delG	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1382delG	X.37:g.65414952delG	ENSP00000343939:p.Arg461fs		Somatic				HEPH_ENST00000441993.2_Frame_Shift_Del_p.R464fs|HEPH_ENST00000343002.2_Frame_Shift_Del_p.R461fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.R464fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.R464fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.R194fs	p.R515fs			WXS	Illumina GAIIx	Phase_I	Q9BQS7	HEPH_HUMAN			9	1723	+			461			Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Del	DEL	ENST00000343002.2	37	c.1544delG																																																																																					0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		25	48						25	48	---	---	---	---
