#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTCH2	8643	broad.mit.edu	37	1	45295299	45295299	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:45295299C>T	ENST00000372192.3	-	8	1200	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.R357Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	357					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACAAAGCGCCGCTGCCAGGC	0.617									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1069-1071)cGg>cAg		patched 2							106.0	111.0	109.0					1																	45295299		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295299C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1070G>A	1.37:g.45295299C>T	ENSP00000361266:p.Arg357Gln		Somatic				PTCH2_ENST00000372192.3_Missense_Mutation_p.R357Q	p.R357Q	NM_001166292.1	NP_001159764.1	WXS	Illumina GAIIx	Phase_I	Q9Y6C5	PTC2_HUMAN			8	1081	-	Acute lymphoblastic leukemia(166;0.155)		357					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1070G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198780	0.94997	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91521	-2.86;-2.86	4.53	4.53	0.55603	.	0.000000	0.48767	D	0.000167	D	0.95664	0.8590	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	D	0.95635	0.8693	10	0.46703	T	0.11	-22.4146	17.0576	0.86539	0.0:1.0:0.0:0.0	.	357;357	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	357	ENSP00000389703:R357Q;ENSP00000361266:R357Q	ENSP00000361266:R357Q	R	-	2	0	PTCH2	45067886	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.262000	0.78410	2.356000	0.79943	0.561000	0.74099	CGG		0.617	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		13	155	13	155	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74575077	74575077	+	Splice_Site	SNP	C	C	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:74575077C>A	ENST00000395089.1	-	4	867		c.e4+1		LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site|LRRIQ3_ENST00000354431.4_Splice_Site			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3											NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATTATACTTACATGTTTCCAA	0.269																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.e5+1		leucine-rich repeats and IQ motif containing 3							45.0	36.0	39.0					1																	74575077		1777	4037	5814	SO:0001630	splice_region_variant	127255							g.chr1:74575077C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.867+1G>T	1.37:g.74575077C>A			Somatic				LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000395089.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site		NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	A6PVS8	LRIQ3_HUMAN			5	1059	-								A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Splice_Site	SNP	ENST00000395089.1	37		CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762185	0.69763	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5518	0.50725	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRIQ3	74347665	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.152000	0.50677	2.438000	0.82558	0.585000	0.79938	.		0.269	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	Intron	4	6	4	6	---	---	---	---
PTGS2	5743	broad.mit.edu	37	1	186647446	186647446	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:186647446G>A	ENST00000367468.5	-	4	540	c.404C>T	c.(403-405)aCt>aTt	p.T135I	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	135					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AAGGGCTCTAGTATAATAGGA	0.438																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(403-405)aCt>aTt		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						102.0	92.0	95.0					1																	186647446		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186647446G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.404C>T	1.37:g.186647446G>A	ENSP00000356438:p.Thr135Ile		Somatic				PTGS2_ENST00000490885.2_5'UTR	p.T135I	NM_000963.2	NP_000954.1	WXS	Illumina GAIIx	Phase_I	P35354	PGH2_HUMAN			4	540	-			135					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.404C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211841	0.95069	.	.	ENSG00000073756	ENST00000367468	T	0.18960	2.18	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.92317	3.295	0.80722	D	1	D	0.63046	0.992	D	0.63877	0.919	T	0.68085	-0.5502	10	0.87932	D	0	-20.695	19.4409	0.94820	0.0:0.0:1.0:0.0	.	135	P35354	PGH2_HUMAN	I	135	ENSP00000356438:T135I	ENSP00000356438:T135I	T	-	2	0	PTGS2	184914069	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	9.622000	0.98378	2.589000	0.87451	0.655000	0.94253	ACT		0.438	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		8	46	8	46	---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210522367	210522367	+	Silent	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:210522367C>T	ENST00000367010.1	+	2	275	c.48C>T	c.(46-48)ggC>ggT	p.G16G	HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G|HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000545154.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	16					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTCACTAGGCTTCCACTTCT	0.478																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(46-48)ggC>ggT		hedgehog acyltransferase							121.0	103.0	109.0					1																	210522367		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210522367C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.48C>T	1.37:g.210522367C>T			Somatic				HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G	p.G16G	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	2	275	+			16					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.48C>T	CCDS1495.1																																																																																				0.478	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		18	30	18	30	---	---	---	---
ADCK3	56997	broad.mit.edu	37	1	227170646	227170646	+	Missense_Mutation	SNP	T	T	G	rs201334858		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:227170646T>G	ENST00000366779.1	+	13	3762	c.991T>G	c.(991-993)Ttc>Gtc	p.F331V	ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	331	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTTGGAATACTTCGAGGAGCG	0.647																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(991-993)Ttc>Gtc		aarF domain containing kinase 3							19.0	21.0	20.0					1																	227170646		2200	4298	6498	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227170646T>G	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.991T>G	1.37:g.227170646T>G	ENSP00000355741:p.Phe331Val		Somatic				ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000478406.1_3'UTR	p.F331V			WXS	Illumina GAIIx	Phase_I	Q8NI60	ADCK3_HUMAN			13	3762	+			331			Protein kinase.		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.991T>G	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	T	36	5.673105	0.96754	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.66	5.66	0.87406	ABC-1 (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85120	0.5624	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.88651	0.3182	10	0.87932	D	0	-15.7929	15.8882	0.79269	0.0:0.0:0.0:1.0	.	331	Q8NI60	ADCK3_HUMAN	V	331;279;331;256;52;176;282	ENSP00000355741:F331V;ENSP00000355740:F279V;ENSP00000355739:F331V;ENSP00000355738:F256V;ENSP00000403704:F52V;ENSP00000355737:F176V	ENSP00000355737:F176V	F	+	1	0	ADCK3	225237269	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.997000	0.88414	2.166000	0.68216	0.454000	0.30748	TTC		0.647	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		10	12	10	12	---	---	---	---
PPM1G	5496	broad.mit.edu	37	2	27604624	27604624	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:27604624A>G	ENST00000344034.4	-	10	1747	c.1483T>C	c.(1483-1485)Tgt>Cgt	p.C495R	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000323703.6_5'Flank|ZNF513_ENST00000407879.1_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	495					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGTTGTCACACCCTGTACCA	0.547																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(1483-1485)Tgt>Cgt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							137.0	130.0	133.0					2																	27604624		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27604624A>G	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1483T>C	2.37:g.27604624A>G	ENSP00000342778:p.Cys495Arg		Somatic				PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	p.C495R	NM_177983.2	NP_817092.1	WXS	Illumina GAIIx	Phase_I	O15355	PPM1G_HUMAN			10	1747	-	Acute lymphoblastic leukemia(172;0.155)		495						Missense_Mutation	SNP	ENST00000344034.4	37	c.1483T>C	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687233	0.68157	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.08546	3.08;3.08	5.99	4.82	0.62117	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	M	0.72894	2.215	0.80722	D	1	D;P	0.76494	0.999;0.845	D;P	0.72075	0.976;0.467	T	0.00630	-1.1636	10	0.87932	D	0	-4.2202	10.2912	0.43596	0.8529:0.0:0.0:0.1471	.	296;495	Q59GB2;O15355	.;PPM1G_HUMAN	R	495;495;478;296	ENSP00000342778:C495R;ENSP00000264714:C495R	ENSP00000342778:C495R	C	-	1	0	PPM1G	27458128	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.339000	0.96797	1.065000	0.40693	-0.333000	0.08304	TGT		0.547	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		4	89	4	89	---	---	---	---
SMEK2	57223	broad.mit.edu	37	2	55844316	55844316	+	Missense_Mutation	SNP	T	T	C	rs199629271		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:55844316T>C	ENST00000345102.5	-	1	407	c.106A>G	c.(106-108)Aag>Gag	p.K36E	SMEK2_ENST00000272313.5_Missense_Mutation_p.K36E|SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR|RP11-554J4.1_ENST00000608113.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	36	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACATCCCCTTGAGCTCCTCC	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		18889	0.001		0.0	False		,,,				2504	0.0					ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(106-108)Aag>Gag		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							77.0	72.0	73.0					2																	55844316		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55844316T>C	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.106A>G	2.37:g.55844316T>C	ENSP00000339769:p.Lys36Glu		Somatic				SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000345102.5_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR	p.K36E	NM_020463.2	NP_065196.1	WXS	Illumina GAIIx	Phase_I	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	433	-			36			WH1.		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.106A>G	CCDS46289.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	18.75	3.690970	0.68271	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.42513	0.97;0.97;0.97	5.19	5.19	0.71726	Pleckstrin homology-type (1);	0.046693	0.85682	D	0.000000	T	0.23572	0.0570	N	0.05050	-0.12	0.80722	D	1	B;B;B	0.12013	0.002;0.005;0.0	B;B;B	0.14578	0.005;0.011;0.002	T	0.08086	-1.0739	10	0.19590	T	0.45	-10.6913	15.2232	0.73330	0.0:0.0:0.0:1.0	.	36;36;36	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	E	36	ENSP00000272313:K36E;ENSP00000385912:K36E;ENSP00000339769:K36E	ENSP00000272313:K36E	K	-	1	0	SMEK2	55697820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.554000	0.82212	2.184000	0.69523	0.533000	0.62120	AAG		0.592	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		38	52	38	52	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166908358	166908358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:166908358G>A	ENST00000303395.4	-	6	834	c.835C>T	c.(835-837)Caa>Taa	p.Q279*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	279					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAGGCCATTGTATACATTTA	0.393																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(835-837)Caa>Taa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						95.0	95.0	95.0					2																	166908358		2203	4299	6502	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908358G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.835C>T	2.37:g.166908358G>A	ENSP00000303540:p.Gln279*		Somatic				AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*	p.Q279*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			6	852	-			279					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.835C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734358	0.89482	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8211	0.63320	0.0736:0.0:0.9264:0.0	.	.	.	.	X	279	.	ENSP00000303540:Q279X	Q	-	1	0	SCN1A	166616604	0.980000	0.34600	0.623000	0.29173	0.662000	0.39071	2.579000	0.46059	2.688000	0.91661	0.655000	0.94253	CAA		0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		32	27	32	27	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174777796	174777796	+	Splice_Site	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:174777796A>G	ENST00000310015.6	-	6	2560		c.e6+1		SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor						B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AGTATTAGTAACCTGTATGTG	0.353																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.e6+1		Sp3 transcription factor							80.0	75.0	77.0					2																	174777796		2203	4300	6503	SO:0001630	splice_region_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777796A>G	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2029+1T>C	2.37:g.174777796A>G			Somatic				SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site		NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	WXS	Illumina GAIIx	Phase_I	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2560	-								A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Splice_Site	SNP	ENST00000310015.6	37		CCDS2254.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751114	0.69533	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194;ENST00000416195	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.979	0.80091	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SP3	174486042	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.060000	0.93907	2.182000	0.69389	0.460000	0.39030	.		0.353	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	Intron	13	26	13	26	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183994314	183994314	+	Intron	SNP	G	G	A	rs376213717		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183994314G>A	ENST00000402825.3	+	3	480				ECE2_ENST00000359140.4_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K|ECE2_ENST00000404464.3_Missense_Mutation_p.E29K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACGCACCCGAGACCCCCGT	0.667																																						ENST00000404464.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(85-87)Gag>Aag		endothelin converting enzyme 2		G	,LYS/GLU,LYS/GLU,	1,3883		0,1,1941	17.0	21.0	20.0		,85,85,	3.8	0.9	3		20	0,8206		0,0,4103	no	intron,missense,missense,intron	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	,56,56,	0,1,6044	AA,AG,GG		0.0,0.0257,0.0083	,,,	,29/812,29/766,	183994314	1,12089	1942	4103	6045	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183994314G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-366G>A	3.37:g.183994314G>A			Somatic				ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K|EIF2B5_ENST00000444495.1_Intron	p.E29K	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	WXS	Illumina GAIIx	Phase_I	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	223	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.85G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995391	0.74703	2.57E-4	0.0	ENSG00000145194	ENST00000404464;ENST00000357474	D;D	0.86562	-1.65;-2.14	3.76	3.76	0.43208	.	0.243031	0.36482	N	0.002563	D	0.82300	0.5007	N	0.19112	0.55	0.80722	D	1	D;P;P	0.61697	0.99;0.453;0.884	P;B;B	0.48488	0.579;0.072;0.245	D	0.85541	0.1215	10	0.72032	D	0.01	.	14.2998	0.66339	0.0:0.0:1.0:0.0	.	29;29;29	B7Z1P1;O60344-2;O60344-5	.;.;.	K	29	ENSP00000385846:E29K;ENSP00000350066:E29K	ENSP00000350066:E29K	E	+	1	0	ECE2	185477008	1.000000	0.71417	0.924000	0.36721	0.756000	0.42949	7.259000	0.78381	1.934000	0.56057	0.462000	0.41574	GAG		0.667	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		16	33	16	33	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183995186	183995186	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183995186G>A	ENST00000402825.3	+	4	764	c.764G>A	c.(763-765)gGg>gAg	p.G255E	ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	255	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCCGATGGGCGTTCTCGC	0.602																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(763-765)gGg>gAg		endothelin converting enzyme 2							52.0	52.0	52.0					3																	183995186		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995186G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.764G>A	3.37:g.183995186G>A	ENSP00000384223:p.Gly255Glu		Somatic				ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E|EIF2B5_ENST00000444495.1_Intron	p.G255E	NM_014693.3	NP_055508.3	WXS	Illumina GAIIx	Phase_I	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	764	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		255			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.764G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	31	5.081090	0.94050	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.97	5.97	0.96955	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	L	0.58101	1.795	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.67;1.0;1.0;1.0	D;D;B;D;D;D	0.97110	1.0;1.0;0.1;1.0;1.0;1.0	T	0.79438	-0.1803	10	0.25751	T	0.34	-29.7669	18.9918	0.92796	0.0:0.0:1.0:0.0	.	108;183;137;183;108;255	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	E	255;108;137;183;129	ENSP00000384223:G255E;ENSP00000352052:G108E;ENSP00000385846:G137E;ENSP00000350066:G183E;ENSP00000398444:G129E	ENSP00000350066:G183E	G	+	2	0	ECE2	185477880	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	9.827000	0.99397	2.837000	0.97791	0.655000	0.94253	GGG		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		27	54	27	54	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138452262	138452262	+	Silent	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:138452262T>C	ENST00000344876.4	-	1	1367	c.981A>G	c.(979-981)caA>caG	p.Q327Q	PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000412923.2_Silent_p.Q327Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GACCCAAATCTTGAGCCTGAA	0.353																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(979-981)caA>caG		protocadherin 18							30.0	33.0	32.0					4																	138452262		2189	4296	6485	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452262T>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.981A>G	4.37:g.138452262T>C			Somatic				PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q327Q	p.Q327Q	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	Q9HCL0	PCD18_HUMAN			1	1367	-	all_hematologic(180;0.24)		327			Cadherin 3.		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.981A>G	CCDS34064.1																																																																																				0.353	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		14	21	14	21	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815919	82815919	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:82815919G>A	ENST00000265077.3	+	7	2359	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	598	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGACTTGGAGTCAGTCTCAG	0.418																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1792-1794)gaG>gaA		versican							124.0	124.0	124.0					5																	82815919		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815919G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1794G>A	5.37:g.82815919G>A			Somatic				VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000343200.5_Intron	p.E598E	NM_004385.4	NP_004376.2	WXS	Illumina GAIIx	Phase_I	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2359	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	598			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1794G>A	CCDS4060.1																																																																																				0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		62	62	62	62	---	---	---	---
CCNJL	79616	broad.mit.edu	37	5	159680553	159680553	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:159680553G>A	ENST00000393977.3	-	7	1425	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	380						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGGTACGGGGTGTGGAGGG	0.632																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1138-1140)acC>acT		cyclin J-like							71.0	79.0	76.0					5																	159680553		2116	4240	6356	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159680553G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1140C>T	5.37:g.159680553G>A			Somatic				CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T	p.T380T	NM_024565.5	NP_078841.3	WXS	Illumina GAIIx	Phase_I	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1425	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	380					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.1140C>T	CCDS4350.2																																																																																				0.632	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		33	54	33	54	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50810837	50810837	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:50810837C>T	ENST00000393655.3	+	7	1284	c.1115C>T	c.(1114-1116)gCg>gTg	p.A372V	TFAP2B_ENST00000263046.4_Missense_Mutation_p.A381V	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	372				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GATCTACTGGCGCAGGACCGG	0.567																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1141-1143)gCg>gTg		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							88.0	94.0	92.0					6																	50810837		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810837C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1115C>T	6.37:g.50810837C>T	ENSP00000377265:p.Ala372Val		Somatic				TFAP2B_ENST00000393655.3_Missense_Mutation_p.A372V	p.A381V			WXS	Illumina GAIIx	Phase_I	Q92481	AP2B_HUMAN			8	1308	+	Lung NSC(77;0.156)		372	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1142C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562086	0.86335	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96940	-4.18;-4.18	4.79	4.79	0.61399	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	M	0.62723	1.935	0.80722	D	1	P	0.48016	0.904	B	0.34991	0.193	D	0.94112	0.7372	10	0.72032	D	0.01	-12.2286	17.8403	0.88713	0.0:1.0:0.0:0.0	.	372	Q92481	AP2B_HUMAN	V	372;381	ENSP00000377265:A372V;ENSP00000263046:A381V	ENSP00000263046:A381V	A	+	2	0	TFAP2B	50918796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.214000	0.71695	0.655000	0.94253	GCG		0.567	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		7	235	7	235	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51484229	51484229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:51484229T>C	ENST00000371117.3	-	67	12150	c.11875A>G	c.(11875-11877)Att>Gtt	p.I3959V	RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3959					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCGGACAATGTGGCGGCTA	0.552																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11875-11877)Att>Gtt		polycystic kidney and hepatic disease 1 (autosomal recessive)							104.0	96.0	99.0					6																	51484229		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484229T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11875A>G	6.37:g.51484229T>C	ENSP00000360158:p.Ile3959Val		Somatic				RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	p.I3959V	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			67	12150	-	Lung NSC(77;0.0605)		3959					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11875A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	0.124	-1.121806	0.01785	.	.	ENSG00000170927	ENST00000371117	D	0.85088	-1.94	5.53	-8.57	0.00900	.	1.722310	0.02890	N	0.134077	T	0.23611	0.0571	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.02654	T	1	.	2.868	0.05608	0.2026:0.1797:0.0999:0.5179	.	3959	P08F94	PKHD1_HUMAN	V	3959	ENSP00000360158:I3959V	ENSP00000360158:I3959V	I	-	1	0	PKHD1	51592188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.790000	0.04604	-2.270000	0.00683	-2.325000	0.00251	ATT		0.552	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		77	71	77	71	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478836	141478836	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:141478836T>G	ENST00000247881.2	+	1	595	c.548T>G	c.(547-549)tTg>tGg	p.L183W	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	183					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCTTTGGTCTTGAGCTCATCT	0.408																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(547-549)tTg>tGg		taste receptor, type 2, member 4							228.0	227.0	227.0					7																	141478836		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478836T>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.548T>G	7.37:g.141478836T>G	ENSP00000247881:p.Leu183Trp		Somatic				SSBP1_ENST00000465582.1_Intron	p.L183W	NM_016944.1	NP_058640.1	WXS	Illumina GAIIx	Phase_I	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	595	+	Melanoma(164;0.0171)		183					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.548T>G	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	t	13.12	2.140897	0.37825	.	.	ENSG00000127364	ENST00000247881	T	0.44881	0.91	5.31	2.96	0.34315	.	0.534639	0.18231	N	0.147574	T	0.59376	0.2189	M	0.75884	2.315	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.49952	-0.8884	10	0.87932	D	0	.	8.1587	0.31185	0.0:0.1632:0.0:0.8368	.	183	Q9NYW5	TA2R4_HUMAN	W	183	ENSP00000247881:L183W	ENSP00000247881:L183W	L	+	2	0	TAS2R4	141125305	0.000000	0.05858	0.016000	0.15963	0.483000	0.33249	0.653000	0.24902	0.489000	0.27749	0.515000	0.50301	TTG		0.408	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			86	137	86	137	---	---	---	---
TACC1	6867	broad.mit.edu	37	8	38699927	38699927	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr8:38699927T>G	ENST00000317827.4	+	10	2462	c.2083T>G	c.(2083-2085)Tat>Gat	p.Y695D	RP11-723D22.3_ENST00000459965.2_RNA|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000379931.3_Missense_Mutation_p.Y707D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	695					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTCAGGAGATATGAGAACCT	0.473																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(2119-2121)Tat>Gat		transforming, acidic coiled-coil containing protein 1							118.0	121.0	120.0					8																	38699927		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38699927T>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.2083T>G	8.37:g.38699927T>G	ENSP00000321703:p.Tyr695Asp		Somatic				TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000317827.4_Missense_Mutation_p.Y695D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D	p.Y707D			WXS	Illumina GAIIx	Phase_I	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		11	2498	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	695			Interaction with CH-TOG.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.2119T>G	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.90|13.90	2.374127|2.374127	0.42105|0.42105	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521866;ENST00000518809|ENST00000519416;ENST00000520615;ENST00000443286;ENST00000518415;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973;ENST00000520611	.|T;T;T;T;T;T;T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.24|5.24	4.07|4.07	0.47477|0.47477	.|.	.|0.076409	.|0.53938	.|D	.|0.000043	T|T	0.68174|0.68174	0.2972|0.2972	M|M	0.81112|0.81112	2.525|2.525	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.999;1.0;0.987;1.0;0.999;1.0;0.999;1.0	.|D;D;P;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.889;1.0;0.999;0.992;0.991;1.0	T|T	0.71087|0.71087	-0.4694|-0.4694	5|10	.|0.87932	.|D	.|0	-8.6315|-8.6315	11.5181|11.5181	0.50534|0.50534	0.1343:0.0:0.0:0.8657|0.1343:0.0:0.0:0.8657	.|.	.|471;471;682;707;695;285;499;621	.|E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-6;E7ET87;O75410-7	.|.;.;.;.;TACC1_HUMAN;.;.;.	E|D	451;343|499;500;682;621;269;257;695;707;285;471;132	.|ENSP00000428687:Y499D;ENSP00000428450:Y500D;ENSP00000393647:Y682D;ENSP00000428706:Y621D;ENSP00000332794:Y269D;ENSP00000327818:Y257D;ENSP00000321703:Y695D;ENSP00000369263:Y707D;ENSP00000276520:Y285D;ENSP00000430959:Y471D;ENSP00000429418:Y132D	.|ENSP00000276520:Y285D	D|Y	+|+	3|1	2|0	TACC1|TACC1	38819084|38819084	1.000000|1.000000	0.71417|0.71417	0.406000|0.406000	0.26421|0.26421	0.003000|0.003000	0.03518|0.03518	8.040000|8.040000	0.89188|0.89188	0.813000|0.813000	0.34350|0.34350	-0.327000|-0.327000	0.08410|0.08410	GAT|TAT		0.473	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		37	50	37	50	---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17791307	17791307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:17791307C>T	ENST00000380607.4	+	7	823	c.703C>T	c.(703-705)Caa>Taa	p.Q235*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	235	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATCCTGCAGCAAGTCACGGT	0.423																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(703-705)Caa>Taa		SH3-domain GRB2-like 2							147.0	134.0	139.0					9																	17791307		2203	4300	6503	SO:0001587	stop_gained	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17791307C>T	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.703C>T	9.37:g.17791307C>T	ENSP00000369981:p.Gln235*		Somatic				SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	p.Q235*	NM_003026.2	NP_003017.1	WXS	Illumina GAIIx	Phase_I	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	7	823	+			235			BAR.		B2R618|Q9NQK5	Nonsense_Mutation	SNP	ENST00000380607.4	37	c.703C>T	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734344	0.96865	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607;ENST00000537391	.	.	.	5.33	5.33	0.75918	.	0.220791	0.37809	N	0.001935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	14.6106	0.68514	0.0:0.8545:0.1455:0.0	.	.	.	.	X	64;213;235;188	.	ENSP00000369981:Q235X	Q	+	1	0	SH3GL2	17781307	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.874000	0.56101	2.491000	0.84063	0.643000	0.83706	CAA		0.423	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		36	6	36	6	---	---	---	---
ALDH1A1	216	broad.mit.edu	37	9	75526938	75526938	+	Missense_Mutation	SNP	C	C	A	rs142280224		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:75526938C>A	ENST00000297785.3	-	10	1190	c.1136G>T	c.(1135-1137)gGc>gTc	p.G379V		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	379					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	GACAAAGTAGCCTTTATTCCC	0.443																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(1135-1137)gGc>gTc		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						156.0	137.0	144.0					9																	75526938		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75526938C>A	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1136G>T	9.37:g.75526938C>A	ENSP00000297785:p.Gly379Val		Somatic					p.G379V	NM_000689.4	NP_000680.2	WXS	Illumina GAIIx	Phase_I	P00352	AL1A1_HUMAN			10	1190	-			379					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.1136G>T	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014904	0.93404	.	.	ENSG00000165092	ENST00000297785	D	0.83992	-1.79	5.91	5.91	0.95273	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.139731	0.49916	D	0.000133	D	0.95156	0.8430	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96263	0.9192	10	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	300;379	B4DDF8;P00352	.;AL1A1_HUMAN	V	379	ENSP00000297785:G379V	ENSP00000297785:G379V	G	-	2	0	ALDH1A1	74716758	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.416000	0.80143	2.813000	0.96785	0.655000	0.94253	GGC		0.443	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			45	78	45	78	---	---	---	---
C10orf105	414152	broad.mit.edu	37	10	73468898	73468898	+	IGR	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr10:73468898C>T	ENST00000441508.2	-	0	4837				CDH23_ENST00000224721.6_Silent_p.A1055A	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											ACCGCGATGCCGTTGTGAGAA	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3163-3165)gcC>gcT		cadherin-related 23							94.0	115.0	108.0					10																	73468898		2144	4249	6393	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73468898C>T	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73468898C>T			Somatic					p.A1055A	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			26	3170	+			1050			Cadherin 10.			Silent	SNP	ENST00000441508.2	37	c.3165C>T	CCDS44430.1																																																																																				0.627	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		6	60	6	60	---	---	---	---
CTSD	1509	broad.mit.edu	37	11	1776173	1776173	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:1776173C>T	ENST00000236671.2	-	6	922	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	264					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGCGGGTGACATTCAGGTAG	0.622																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(790-792)Gtc>Atc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						107.0	95.0	99.0					11																	1776173		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1776173C>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.790G>A	11.37:g.1776173C>T	ENSP00000236671:p.Val264Ile		Somatic				RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	p.V264I	NM_001909.4	NP_001900.1	WXS	Illumina GAIIx	Phase_I	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	6	922	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	264					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.790G>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.18|15.18	2.757560|2.757560	0.49468|0.49468	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000429746;ENST00000438213	.|T;T;T	.|0.61742	.|0.08;0.32;0.08	4.25|4.25	4.25|4.25	0.50352|0.50352	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.131711	.|0.51477	.|D	.|0.000092	T|T	0.59280|0.59280	0.2182|0.2182	M|M	0.62266|0.62266	1.93|1.93	0.49798|0.49798	D|D	0.999826|0.999826	.|P	.|0.37864	.|0.61	.|B	.|0.39738	.|0.308	T|T	0.65747|0.65747	-0.6093|-0.6093	5|10	.|0.52906	.|T	.|0.07	.|.	17.2115|17.2115	0.86931|0.86931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264	.|P07339	.|CATD_HUMAN	I|I	134|264;2;249	.|ENSP00000236671:V264I;ENSP00000402586:V2I;ENSP00000415036:V249I	.|ENSP00000236671:V264I	M|V	-|-	3|1	0|0	RP11-295K3.1|CTSD	1732749|1732749	0.921000|0.921000	0.31238|0.31238	0.998000|0.998000	0.56505|0.56505	0.664000|0.664000	0.39144|0.39144	1.713000|1.713000	0.37951|0.37951	2.373000|2.373000	0.80994|0.80994	0.455000|0.455000	0.32223|0.32223	ATG|GTC		0.622	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		36	51	36	51	---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128781513	128781513	+	Silent	SNP	G	G	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:128781513G>T	ENST00000338350.4	+	3	697	c.345G>T	c.(343-345)cgG>cgT	p.R115R	KCNJ5_ENST00000533599.1_Silent_p.R115R|KCNJ5_ENST00000529694.1_Silent_p.R115R			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	115					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CTTATATCCGGGGTGACCTGG	0.507																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(343-345)cgG>cgT		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						131.0	128.0	129.0					11																	128781513		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781513G>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.345G>T	11.37:g.128781513G>T			Somatic				KCNJ5_ENST00000533599.1_Silent_p.R115R|KCNJ5_ENST00000338350.4_Silent_p.R115R	p.R115R	NM_000890.3	NP_000881.3	WXS	Illumina GAIIx	Phase_I	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	721	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	115					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.345G>T	CCDS8479.1																																																																																				0.507	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		58	61	58	61	---	---	---	---
ZBTB44	29068	broad.mit.edu	37	11	130130970	130130970	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:130130970C>G	ENST00000357899.4	-	2	1071	c.799G>C	c.(799-801)Gct>Cct	p.A267P	ZBTB44_ENST00000525842.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACATAATCAGCCATTCTTCTA	0.433																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(799-801)Gct>Cct		zinc finger and BTB domain containing 44							130.0	125.0	126.0					11																	130130970		1913	4122	6035	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130130970C>G	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.799G>C	11.37:g.130130970C>G	ENSP00000350574:p.Ala267Pro		Somatic				ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000357899.4_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P	p.A267P	NM_014155.4	NP_054874.3	WXS	Illumina GAIIx	Phase_I	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	1166	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	267					Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.799G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.73|10.73|10.73	1.432532|1.432532|1.432532	0.25813|0.25813|0.25813	.|.|.	.|.|.	ENSG00000196323|ENSG00000196323|ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191|ENST00000527478|ENST00000529982	T;T;T;T;T|.|.	0.13657|.|.	2.57;2.95;2.67;2.95;2.57|.|.	5.37|5.37|5.37	-1.93|-1.93|-1.93	0.07594|0.07594|0.07594	.|.|.	0.680438|.|.	0.15737|.|.	N|.|.	0.247102|.|.	T|T|T	0.26159|0.26159|0.26159	0.0638|0.0638|0.0638	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.29233|0.29233|0.29233	N|N|N	0.873174|0.873174|0.873174	B;B;B;B|.|.	0.28880|.|.	0.118;0.036;0.145;0.226|.|.	B;B;B;B|.|.	0.31686|.|.	0.069;0.043;0.043;0.134|.|.	T|T|T	0.33954|0.33954|0.33954	-0.9848|-0.9848|-0.9848	10|5|5	0.46703|.|.	T|.|.	0.11|.|.	.|.|.	11.78|11.78|11.78	0.52008|0.52008|0.52008	0.0:0.4912:0.0:0.5088|0.0:0.4912:0.0:0.5088|0.0:0.4912:0.0:0.5088	.|.|.	267;267;267;267|.|.	Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2|.|.	.;.;ZBT44_HUMAN;.|.|.	P|A|C	267;267;267;267;267;179|263|120	ENSP00000433457:A267P;ENSP00000380861:A267P;ENSP00000408079:A267P;ENSP00000350574:A267P;ENSP00000434177:A267P|.|.	ENSP00000341618:A179P|.|.	A|G|W	-|-|-	1|2|3	0|0|0	ZBTB44|ZBTB44|ZBTB44	129636180|129636180|129636180	0.296000|0.296000|0.296000	0.24398|0.24398|0.24398	0.967000|0.967000|0.967000	0.41034|0.41034|0.41034	0.739000|0.739000|0.739000	0.42172|0.42172|0.42172	-0.360000|-0.360000|-0.360000	0.07622|0.07622|0.07622	-0.247000|-0.247000|-0.247000	0.09597|0.09597|0.09597	-1.008000|-1.008000|-1.008000	0.02478|0.02478|0.02478	GCT|GGC|TGG		0.433	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		7	143	7	143	---	---	---	---
DDX47	51202	broad.mit.edu	37	12	12976860	12976860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:12976860C>A	ENST00000358007.3	+	8	829	c.807C>A	c.(805-807)ttC>ttA	p.F269L	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTATGATATTCTGCAGCACCT	0.413																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(805-807)ttC>ttA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							172.0	170.0	171.0					12																	12976860		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12976860C>A	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.807C>A	12.37:g.12976860C>A	ENSP00000350698:p.Phe269Leu		Somatic				DDX47_ENST00000352940.4_Intron	p.F269L	NM_016355.3	NP_057439.2	WXS	Illumina GAIIx	Phase_I	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	8	829	+		Prostate(47;0.0526)	269			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.807C>A	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989562	0.93106	.	.	ENSG00000213782	ENST00000358007	T	0.10192	2.9	5.53	4.64	0.57946	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72750	-0.4199	10	0.87932	D	0	-15.234	16.4186	0.83751	0.0:0.8683:0.1317:0.0	.	269;269	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	L	269	ENSP00000350698:F269L	ENSP00000350698:F269L	F	+	3	2	DDX47	12868127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.737000	0.62066	1.323000	0.45263	0.561000	0.74099	TTC		0.413	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		4	138	4	138	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88576148	88576148	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr15:88576148G>A	ENST00000360948.2	-	13	1686	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NTRK3_ENST00000394480.2_Missense_Mutation_p.P509S|NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	509					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAATGACAGGGATGCGAGTC	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.2				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1525-1527)Cct>Tct		neurotrophic tyrosine kinase, receptor, type 3							111.0	78.0	89.0					15																	88576148		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576148G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1525C>T	15.37:g.88576148G>A	ENSP00000354207:p.Pro509Ser	TSP Lung(13;0.10)	Somatic				NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P509S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S	p.P509S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	WXS	Illumina GAIIx	Phase_I	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1846	-								B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1525C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980825	0.74474	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73681	-0.77;-0.72;-0.69;-0.77;-0.65;0.04;0.04	4.91	3.96	0.45880	.	0.055096	0.85682	D	0.000000	T	0.81240	0.4781	L	0.56280	1.765	0.58432	D	0.999999	D;D;D;D;D;P	0.89917	1.0;1.0;0.998;1.0;1.0;0.892	D;D;D;D;D;P	0.87578	0.996;0.996;0.954;0.996;0.998;0.719	T	0.79864	-0.1623	10	0.41790	T	0.15	.	11.0307	0.47772	0.0945:0.0:0.9055:0.0	.	411;501;501;509;509;509	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	509;509;501;509;411;5;509;509	ENSP00000377990:P509S;ENSP00000354207:P509S;ENSP00000350356:P501S;ENSP00000347397:P509S;ENSP00000437773:P411S;ENSP00000444673:P509S;ENSP00000318328:P509S	ENSP00000318328:P509S	P	-	1	0	NTRK3	86377152	1.000000	0.71417	0.866000	0.34008	0.786000	0.44442	7.324000	0.79115	1.209000	0.43321	0.650000	0.86243	CCT		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				12	16	12	16	---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48151325	48151325	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:48151325T>A	ENST00000320031.8	+	8	1532	c.1202T>A	c.(1201-1203)aTc>aAc	p.I401N	ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N|ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	401					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AAAGTGTACATCTATCACAGT	0.577																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(1201-1203)aTc>aAc		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							110.0	108.0	108.0					17																	48151325		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48151325T>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1202T>A	17.37:g.48151325T>A	ENSP00000315190:p.Ile401Asn		Somatic				ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N|ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N	p.I401N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	WXS	Illumina GAIIx	Phase_I	P26006	ITA3_HUMAN			8	1532	+			401					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.1202T>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280593	0.80692	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.74526	-0.85;2.33;2.33	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	H	0.96269	3.795	0.58432	D	0.999993	D;D	0.76494	0.983;0.999	P;D	0.65987	0.813;0.94	D	0.92995	0.6418	10	0.87932	D	0	.	15.433	0.75116	0.0:0.0:0.0:1.0	.	401;401	P26006-1;P26006	.;ITA3_HUMAN	N	176;401;387;401	ENSP00000446133:I176N;ENSP00000007722:I401N;ENSP00000315190:I401N	ENSP00000007722:I401N	I	+	2	0	ITGA3	45506324	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.686000	0.84128	2.288000	0.76882	0.533000	0.62120	ATC		0.577	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		25	40	25	40	---	---	---	---
SPIRE1	56907	broad.mit.edu	37	18	12463458	12463458	+	Silent	SNP	G	G	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr18:12463458G>T	ENST00000409402.4	-	12	1797	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Silent_p.P299P	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTCTGGCTGGGGTGTTGATG	0.458																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1528-1530)ccC>ccA		spire-type actin nucleation factor 1							96.0	92.0	93.0					18																	12463458		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12463458G>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1530C>A	18.37:g.12463458G>T			Somatic				SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000464481.1_5'UTR	p.P510P	NM_001128626.1	NP_001122098.1	WXS	Illumina GAIIx	Phase_I	Q08AE8	SPIR1_HUMAN			12	1797	-			510						Silent	SNP	ENST00000409402.4	37	c.1530C>A	CCDS45829.1																																																																																				0.458	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		5	45	5	45	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35800810	35800810	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:35800810C>T	ENST00000392213.3	+	8	1424	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.A422V|MAG_ENST00000537831.2_Missense_Mutation_p.A397V	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	422	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCACTGCGCGGCAGCCCGA	0.677																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1264-1266)gCg>gTg		myelin associated glycoprotein							66.0	72.0	70.0					19																	35800810		2203	4298	6501	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35800810C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1265C>T	19.37:g.35800810C>T	ENSP00000376048:p.Ala422Val		Somatic				MAG_ENST00000392213.3_Missense_Mutation_p.A422V|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.A397V	p.A422V	NM_080600.2	NP_542167.1	WXS	Illumina GAIIx	Phase_I	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1415	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	422			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1265C>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062838	0.76187	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13196	2.61;2.61;2.61	5.33	5.33	0.75918	.	0.055575	0.64402	D	0.000001	T	0.06234	0.0161	N	0.14661	0.345	0.42430	D	0.992675	P;P;P	0.49559	0.907;0.87;0.925	B;B;B	0.33521	0.165;0.089;0.146	T	0.25012	-1.0144	10	0.02654	T	1	.	16.4987	0.84252	0.0:1.0:0.0:0.0	.	459;422;422	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	V	459;422;422;397	ENSP00000355234:A422V;ENSP00000376048:A422V;ENSP00000440695:A397V	ENSP00000262624:A459V	A	+	2	0	MAG	40492650	0.977000	0.34250	0.643000	0.29450	0.960000	0.62799	5.366000	0.66122	2.497000	0.84241	0.462000	0.41574	GCG		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		5	201	5	201	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46443285	46443285	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:46443285G>A	ENST00000263257.5	-	4	1509	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	439	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ATCTGGATGCGAGCGCCCGTC	0.657																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(1315-1317)Cgc>Tgc		neuro-oncological ventral antigen 2							107.0	109.0	108.0					19																	46443285		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46443285G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1315C>T	19.37:g.46443285G>A	ENSP00000263257:p.Arg439Cys		Somatic					p.R439C	NM_002516.2	NP_002507.1	WXS	Illumina GAIIx	Phase_I	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1509	-		all_neural(266;0.113)|Ovarian(192;0.127)	439			KH 3.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.1315C>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048911	0.55110	.	.	ENSG00000104967	ENST00000263257	T	0.33654	1.4	3.17	2.09	0.27110	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.88450	2.955	0.54753	D	0.999982	P	0.47034	0.889	P	0.55222	0.771	T	0.62358	-0.6871	10	0.72032	D	0.01	-2.895	10.1545	0.42814	0.0:0.2059:0.794:0.0	.	439	Q9UNW9	NOVA2_HUMAN	C	439	ENSP00000263257:R439C	ENSP00000263257:R439C	R	-	1	0	NOVA2	51135125	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.753000	0.38359	0.680000	0.31366	0.306000	0.20318	CGC		0.657	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		20	207	20	207	---	---	---	---
ZNF134	7693	broad.mit.edu	37	19	58132424	58132424	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:58132424G>A	ENST00000396161.5	+	3	1247	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCACACTGGAGAAAATCCTTA	0.423																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(937-939)Gaa>Aaa		zinc finger protein 134							127.0	131.0	130.0					19																	58132424		2201	4300	6501	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132424G>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.937G>A	19.37:g.58132424G>A	ENSP00000379464:p.Glu313Lys		Somatic					p.E313K	NM_003435.3	NP_003426.3	WXS	Illumina GAIIx	Phase_I	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1247	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	313					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.937G>A	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648057	0.87958	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.24350	1.86	4.45	4.45	0.53987	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37999	0.1024	L	0.37697	1.125	0.37605	D	0.920718	D	0.63046	0.992	P	0.60286	0.872	T	0.39121	-0.9629	9	0.62326	D	0.03	.	16.3388	0.83075	0.0:0.0:1.0:0.0	.	313	P52741	ZN134_HUMAN	K	380;233;313	ENSP00000379464:E313K	ENSP00000379464:E313K	E	+	1	0	ZNF134	62824236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.808000	0.62583	2.458000	0.83093	0.561000	0.74099	GAA		0.423	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		88	98	88	98	---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47410706	47410706	+	Missense_Mutation	SNP	G	G	A	rs121912935|rs398123630		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr21:47410706G>A	ENST00000361866.3	+	14	1136	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	341	Triple-helical region.		G -> D (in BM). {ECO:0000269|PubMed:11865138}.|G -> V (in BM). {ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:15955946}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGGTACCCAGGCCTGCCAGGC	0.542																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	GRCh37	CM020403|CM051895	COL6A1	M	rs121912935	c.(1021-1023)gGc>gAc		collagen, type VI, alpha 1	Palifermin(DB00039)						68.0	73.0	71.0					21																	47410706		2203	4300	6503	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410706G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1022G>A	21.37:g.47410706G>A	ENSP00000355180:p.Gly341Asp		Somatic					p.G341D	NM_001848.2	NP_001839.2	WXS	Illumina GAIIx	Phase_I	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	14	1136	+	all_hematologic(128;0.24)		341		G -> D (in BM).|G -> V (in BM).	Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.1022G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411644	0.62399	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.99619	-6.28	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.95365	3.66	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	9	0.72032	D	0.01	-31.7912	16.8731	0.86044	0.0:0.0:1.0:0.0	.	341	P12109	CO6A1_HUMAN	D	341	ENSP00000355180:G341D	ENSP00000355180:G341D	G	+	2	0	COL6A1	46235134	0.999000	0.42202	0.991000	0.47740	0.250000	0.25880	4.247000	0.58750	2.222000	0.72286	0.478000	0.44815	GGC		0.542	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		42	57	42	57	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8484295	8484295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:8484295delT	ENST00000381196.4	-	27	3780	c.3237delA	c.(3235-3237)aaafs	p.K1079fs	PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1079	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGAATATGATTTCTCAGGCT	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3235-3237)aaafs		protein tyrosine phosphatase, receptor type, D							114.0	102.0	106.0					9																	8484295		2203	4300	6503	SO:0001589	frameshift_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484295delT	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3237delA	9.37:g.8484295delT	ENSP00000370593:p.Lys1079fs	TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs	p.K1079fs	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3780	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1079			Fibronectin type-III 8.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Frame_Shift_Del	DEL	ENST00000381196.4	37	c.3237delA	CCDS43786.1																																																																																				0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			2	4	2	4	---	---	---	---
