#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	122	0	0	0	1	0	6	122				
AGAP3	116988	broad.mit.edu	37	7	150840451	150840451	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:150840451G>A	ENST00000463381.1	+	15	1800	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q	AGAP3_ENST00000397238.2_Missense_Mutation_p.R766Q	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGCTGGATACGGGCCAAGTAT	0.627																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2296-2298)cGg>cAg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							49.0	56.0	53.0					7																	150840451		2118	4247	6365	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840451G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1304G>A	7.37:g.150840451G>A	ENSP00000418016:p.Arg435Gln					AGAP3_ENST00000463381.1_Missense_Mutation_p.R435Q	p.R766Q	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			17	2297	+			730					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2297G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.249017|5.249017	0.95305|0.95305	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.47528	.|0.84;0.84	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.068783	.|0.64402	.|D	.|0.000013	T|T	0.74627|0.74627	0.3741|0.3741	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.974;0.987;0.999	.|D;P;P;P	.|0.85130	.|0.997;0.49;0.804;0.898	T|T	0.79276|0.79276	-0.1870|-0.1870	5|10	.|0.72032	.|D	.|0.01	.|.	18.0822|18.0822	0.89444|0.89444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|730;265;766;435	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	R|Q	259|435;265;766;730	.|ENSP00000418016:R435Q;ENSP00000380413:R766Q	.|ENSP00000334157:R730Q	G|R	+|+	1|2	0|0	AGAP3|AGAP3	150471384|150471384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.772000|7.772000	0.85439|0.85439	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		14	75	0	0	0	1	0	14	75				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	73	0	0	0	1	0	4	73				
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000422325.1_Silent_p.D49D			Q9BY31	ZN717_HUMAN	zinc finger protein 717						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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502																																						ENST00000478296.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19								zinc finger protein 717							18.0	14.0	15.0					3																	75790798		450	1250	1700			100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790798G>A	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.-4C>T	3.37:g.75790798G>A						ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR				C9JSV9	C9JSV9_HUMAN			0	273	-									Translation_Start_Site	SNP	ENST00000478296.1	37																																																																																						0.502	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223		5	20	0	0	0	1	0	5	20				
NFXL1	152518	broad.mit.edu	37	4	47850315	47850315	+	Silent	SNP	A	A	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:47850315A>T	ENST00000507489.1	-	23	2777	c.2601T>A	c.(2599-2601)cgT>cgA	p.R867R	NFXL1_ENST00000381538.3_Silent_p.R867R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	867						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCTTCTTCCGACGACCCTTCA	0.348																																						ENST00000507489.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(2599-2601)cgT>cgA		nuclear transcription factor, X-box binding-like 1							144.0	138.0	140.0					4																	47850315		2203	4300	6503	SO:0001819	synonymous_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47850315A>T	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2601T>A	4.37:g.47850315A>T						NFXL1_ENST00000381538.3_Silent_p.R867R	p.R867R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN			23	2777	-			867					B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	ENST00000507489.1	37	c.2601T>A	CCDS3478.2																																																																																				0.348	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		7	29	0	0	0	1	0	7	29				
MED1	5469	broad.mit.edu	37	17	37565209	37565209	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:37565209C>T	ENST00000300651.6	-	17	3488	c.3265G>A	c.(3265-3267)Gtg>Atg	p.V1089M	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGGAAGACACAGAACCACTG	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3265-3267)Gtg>Atg		mediator complex subunit 1							91.0	87.0	88.0					17																	37565209		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565209C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3265G>A	17.37:g.37565209C>T	ENSP00000300651:p.Val1089Met	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.V1089M	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3488	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1089			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3265G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158439	0.21454	.	.	ENSG00000125686	ENST00000300651	T	0.32753	1.44	5.87	4.91	0.64330	.	.	.	.	.	T	0.19525	0.0469	N	0.14661	0.345	0.35651	D	0.811784	B	0.14012	0.009	B	0.06405	0.002	T	0.12400	-1.0549	9	0.56958	D	0.05	-3.9687	11.2449	0.48991	0.0:0.8609:0.0:0.1391	.	1089	Q15648	MED1_HUMAN	M	1089	ENSP00000300651:V1089M	ENSP00000300651:V1089M	V	-	1	0	MED1	34818735	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.543000	0.45752	1.633000	0.50488	0.655000	0.94253	GTG		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		21	73	0	0	0	1	0	21	73				
SREK1	140890	broad.mit.edu	37	5	65460676	65460676	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr5:65460676T>A	ENST00000380918.3	+	8	1264	c.604T>A	c.(604-606)Tct>Act	p.S202T	SREK1_ENST00000334121.6_Missense_Mutation_p.S318T|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	202	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAAATCCAGGTCTAGCTCAAA	0.368																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(952-954)Tct>Act		splicing regulatory glutamine/lysine-rich protein 1							117.0	117.0	117.0					5																	65460676		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65460676T>A	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.604T>A	5.37:g.65460676T>A	ENSP00000370305:p.Ser202Thr					SREK1_ENST00000380918.3_Missense_Mutation_p.S202T|SREK1_ENST00000284041.3_3'UTR	p.S318T	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			7	1111	+			202			Arg/Glu/Lys/Ser-rich.		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.952T>A	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319218	0.41096	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.21734	1.99;1.99	5.4	5.4	0.78164	.	0.227351	0.47455	D	0.000237	T	0.33731	0.0873	L	0.32530	0.975	0.40950	D	0.984532	P;P;D	0.56035	0.956;0.956;0.974	D;D;D	0.70487	0.931;0.931;0.969	T	0.04961	-1.0915	10	0.21540	T	0.41	.	15.7082	0.77602	0.0:0.0:0.0:1.0	.	202;202;318	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	T	318;318;202	ENSP00000334538:S318T;ENSP00000370305:S202T	ENSP00000334538:S318T	S	+	1	0	SREK1	65496432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.782000	0.68973	2.163000	0.67991	0.533000	0.62120	TCT		0.368	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		26	82	0	0	0	1	0	26	82				
FCRL5	83416	broad.mit.edu	37	1	157490931	157490931	+	Silent	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:157490931C>T	ENST00000361835.3	-	11	2548	c.2391G>A	c.(2389-2391)tcG>tcA	p.S797S	FCRL5_ENST00000356953.4_Silent_p.S797S|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGAGGGGGACGACCTATTTC	0.592																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2389-2391)tcG>tcA		Fc receptor-like 5							75.0	81.0	79.0					1																	157490931		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490931C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2391G>A	1.37:g.157490931C>T						FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.S797S	p.S797S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			11	2548	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	797			Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2391G>A	CCDS1165.1																																																																																				0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		28	107	0	0	0	1	0	28	107				
PKHD1L1	93035	broad.mit.edu	37	8	110468612	110468612	+	Silent	SNP	A	A	G			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:110468612A>G	ENST00000378402.5	+	46	7100	c.6996A>G	c.(6994-6996)acA>acG	p.T2332T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2332					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGCAAGCACAGGACACAGGT	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(6994-6996)acA>acG		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							78.0	78.0	78.0					8																	110468612		1864	4110	5974	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110468612A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6996A>G	8.37:g.110468612A>G		HNSCC(38;0.096)					p.T2332T	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		46	7100	+			2332					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.6996A>G	CCDS47911.1																																																																																				0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	9	0	0	0	1	0	3	9				
SHROOM2	357	broad.mit.edu	37	X	9900906	9900906	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chrX:9900906A>G	ENST00000380913.3	+	6	3673	c.3583A>G	c.(3583-3585)Acc>Gcc	p.T1195A	SHROOM2_ENST00000418909.2_Missense_Mutation_p.T30A|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1195					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGGATTCAACCAGGTACTG	0.627																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3583-3585)Acc>Gcc		shroom family member 2							30.0	28.0	29.0					X																	9900906		2200	4298	6498	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900906A>G	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3583A>G	X.37:g.9900906A>G	ENSP00000370299:p.Thr1195Ala					SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_Missense_Mutation_p.T30A	p.T1195A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3673	+		Hepatocellular(5;0.000888)	1195					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3583A>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	0.852	-0.738166	0.03111	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.40225	2.61;1.62;1.04	4.66	-3.15	0.05233	.	0.970977	0.08530	N	0.932121	T	0.20577	0.0495	N	0.21373	0.66	0.09310	N	1	B;B	0.24426	0.0;0.103	B;B	0.20767	0.0;0.031	T	0.21759	-1.0236	10	0.19147	T	0.46	-5.6851	2.0514	0.03571	0.2448:0.2537:0.3733:0.1282	.	30;1195	Q68DU3;Q13796	.;SHRM2_HUMAN	A	1195;30;30;30	ENSP00000370299:T1195A;ENSP00000415229:T30A;ENSP00000406724:T30A	ENSP00000370299:T1195A	T	+	1	0	SHROOM2	9860906	0.001000	0.12720	0.002000	0.10522	0.094000	0.18550	-0.035000	0.12205	-0.603000	0.05767	0.425000	0.28330	ACC		0.627	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		14	23	0	0	0	1	0	14	23				
RELN	5649	broad.mit.edu	37	7	103132428	103132428	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:103132428C>T	ENST00000428762.1	-	58	9574	c.9415G>A	c.(9415-9417)Gta>Ata	p.V3139I	RELN_ENST00000343529.5_Missense_Mutation_p.V3139I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3139I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3139					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGCATTACGGAATGAAGG	0.368																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9415-9417)Gta>Ata		reelin							94.0	84.0	87.0					7																	103132428		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103132428C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9415G>A	7.37:g.103132428C>T	ENSP00000392423:p.Val3139Ile					RELN_ENST00000343529.5_Missense_Mutation_p.V3139I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3139I	p.V3139I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	58	9574	-			3139					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9415G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386784	0.82902	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.27104	1.69;1.69;1.69	5.93	5.93	0.95920	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.64567	1.98	0.58432	D	0.999999	P;D	0.62365	0.862;0.991	P;P	0.59703	0.515;0.862	T	0.12682	-1.0538	10	0.39692	T	0.17	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	3139;3139	P78509-2;P78509	.;RELN_HUMAN	I	3139;3139;3139;656;3139	ENSP00000392423:V3139I;ENSP00000345694:V3139I;ENSP00000388446:V3139I	ENSP00000345694:V3139I	V	-	1	0	RELN	102919664	1.000000	0.71417	0.856000	0.33681	0.848000	0.48234	7.158000	0.77470	2.815000	0.96918	0.561000	0.74099	GTA		0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	27	0	0	0	1	0	4	27				
ADD1	118	broad.mit.edu	37	4	2877687	2877687	+	Silent	SNP	G	G	A	rs140936293	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:2877687G>A	ENST00000398129.1	+	1	65	c.45G>A	c.(43-45)ccG>ccA	p.P15P	ADD1_ENST00000503455.2_Silent_p.P15P|ADD1_ENST00000513328.2_Silent_p.P15P|ADD1_ENST00000398125.1_Silent_p.P15P|ADD1_ENST00000355842.3_Silent_p.P15P|ADD1_ENST00000446856.1_Silent_p.P15P|ADD1_ENST00000264758.7_Silent_p.P15P|ADD1_ENST00000398123.2_Silent_p.P15P			P35611	ADDA_HUMAN	adducin 1 (alpha)	15					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCACCCCCGACCACAGCCC	0.478																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(43-45)ccG>ccA		adducin 1 (alpha)							126.0	132.0	130.0					4																	2877687		2203	4300	6503	SO:0001819	synonymous_variant	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877687G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.45G>A	4.37:g.2877687G>A						ADD1_ENST00000398123.2_Silent_p.P15P|ADD1_ENST00000513328.2_Silent_p.P15P|ADD1_ENST00000398129.1_Silent_p.P15P|ADD1_ENST00000503455.2_Silent_p.P15P|ADD1_ENST00000264758.7_Silent_p.P15P|ADD1_ENST00000446856.1_Silent_p.P15P|ADD1_ENST00000398125.1_Silent_p.P15P	p.P15P			P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	908	+			15					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	c.45G>A	CCDS43205.1																																																																																				0.478	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		24	146	0	0	0	1	0	24	146				
DENND1B	163486	broad.mit.edu	37	1	197611924	197611924	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:197611924C>T	ENST00000367396.3	-	10	758	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	DENND1B_ENST00000235453.4_Missense_Mutation_p.V167M|DENND1B_ENST00000400967.2_Missense_Mutation_p.V167M	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	197	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTCACATCCACGGCAACAAAA	0.373																																						ENST00000235453.4																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(499-501)Gtg>Atg		DENN/MADD domain containing 1B							69.0	62.0	65.0					1																	197611924		1972	4221	6193	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197611924C>T	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.589G>A	1.37:g.197611924C>T	ENSP00000356366:p.Val197Met					DENND1B_ENST00000367396.3_Missense_Mutation_p.V197M|DENND1B_ENST00000400967.2_Missense_Mutation_p.V167M	p.V167M			Q6P3S1	DEN1B_HUMAN			10	776	-			197			DENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.499G>A	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213620	0.58452	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967;ENST00000422998	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	4.46	4.46	0.54185	DENN (3);	0.000000	0.64402	D	0.000001	T	0.40767	0.1130	M	0.80746	2.51	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.999;1.0	D;D;P	0.72338	0.977;0.975;0.841	T	0.46707	-0.9172	10	0.72032	D	0.01	-15.9383	17.4732	0.87652	0.0:1.0:0.0:0.0	.	197;197;167	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	M	197;177;167;197;167;141	ENSP00000235453:V167M;ENSP00000356366:V197M;ENSP00000383751:V167M;ENSP00000410025:V141M	ENSP00000235453:V167M	V	-	1	0	DENND1B	195878547	1.000000	0.71417	0.978000	0.43139	0.228000	0.25075	7.445000	0.80570	2.188000	0.69820	0.650000	0.86243	GTG		0.373	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		4	20	0	0	0	1	0	4	20				
C22orf42	150297	broad.mit.edu	37	22	32550285	32550285	+	Missense_Mutation	SNP	G	G	A	rs201406070		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr22:32550285G>A	ENST00000382097.3	-	2	325	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	85										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TTTAACCAGCGCTTGGAGCGG	0.393													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17631	0.0		0.0	False		,,,				2504	0.0					ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(253-255)Cgc>Tgc		chromosome 22 open reading frame 42							46.0	51.0	50.0					22																	32550285		2192	4289	6481	SO:0001583	missense	150297							g.chr22:32550285G>A	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.253C>T	22.37:g.32550285G>A	ENSP00000371529:p.Arg85Cys						p.R85C	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			2	325	-			85					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.253C>T	CCDS33639.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.254	0.046186	0.08243	.	.	ENSG00000205856	ENST00000382097	T	0.32515	1.45	0.538	-1.08	0.09936	.	.	.	.	.	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.58210	0.835	T	0.15492	-1.0435	8	0.72032	D	0.01	.	.	.	.	.	85	Q6IC83	CV042_HUMAN	C	85	ENSP00000371529:R85C	ENSP00000371529:R85C	R	-	1	0	C22orf42	30880285	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-1.042000	0.03539	-0.583000	0.05921	-1.002000	0.02502	CGC		0.393	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		9	56	0	0	0	1	0	9	56				
PEA15	8682	broad.mit.edu	37	1	160181386	160181386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:160181386G>T	ENST00000360472.4	+	2	240	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	PEA15_ENST00000368077.1_Nonsense_Mutation_p.E18*|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368076.1_Nonsense_Mutation_p.E39*|RP11-536C5.7_ENST00000418602.1_RNA	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	18	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACCCTTGAAGATCTAGA	0.532																																						ENST00000368076.1																			0				large_intestine(1)|lung(4)	5						c.(115-117)Gaa>Taa		phosphoprotein enriched in astrocytes 15							134.0	111.0	119.0					1																	160181386		2203	4300	6503	SO:0001587	stop_gained	8682				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	g.chr1:160181386G>T	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.52G>T	1.37:g.160181386G>T	ENSP00000353660:p.Glu18*					PEA15_ENST00000368077.1_Nonsense_Mutation_p.E18*|PEA15_ENST00000360472.4_Nonsense_Mutation_p.E18*|PEA15_ENST00000488858.1_3'UTR	p.E39*			Q15121	PEA15_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	463	+	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		18			DED.		B1AKZ3|O00511	Nonsense_Mutation	SNP	ENST00000360472.4	37	c.115G>T	CCDS1199.1	.	.	.	.	.	.	.	.	.	.	G	36	5.787098	0.96937	.	.	ENSG00000162734	ENST00000360472;ENST00000368077;ENST00000368076	.	.	.	4.77	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.7812	12.5554	0.56250	0.0853:0.0:0.9147:0.0	.	.	.	.	X	18;18;39	.	ENSP00000353660:E18X	E	+	1	0	PEA15	158448010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.890000	0.75633	2.493000	0.84123	0.555000	0.69702	GAA		0.532	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		14	112	1	0	8.60227e-14	1	9.60254e-14	14	112				
ABTB2	25841	broad.mit.edu	37	11	34184211	34184211	+	Silent	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr11:34184211G>A	ENST00000435224.2	-	10	2554	c.2130C>T	c.(2128-2130)agC>agT	p.S710S	ABTB2_ENST00000298992.2_Silent_p.S524S	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	710					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCGGGTCCGGCTCAGCCGCA	0.662																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2128-2130)agC>agT		ankyrin repeat and BTB (POZ) domain containing 2							73.0	61.0	65.0					11																	34184211		2202	4298	6500	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34184211G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2130C>T	11.37:g.34184211G>A						ABTB2_ENST00000298992.2_Silent_p.S524S	p.S710S	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			10	2554	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	524					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.2130C>T	CCDS7890.2																																																																																				0.662	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		4	70	0	0	0	1	0	4	70				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	16	1	0	0.004672	1	0.00487513	3	16				
MYO7B	4648	broad.mit.edu	37	2	128389239	128389239	+	Missense_Mutation	SNP	C	C	A	rs367784789		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:128389239C>A	ENST00000409816.2	+	36	5114	c.5082C>A	c.(5080-5082)gaC>gaA	p.D1694E	MYO7B_ENST00000409090.1_Missense_Mutation_p.D547E|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1694E|MYO7B_ENST00000389524.4_Missense_Mutation_p.D1695E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1694	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTCACCGACCAGATCTTCA	0.647																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5083-5085)gaC>gaA		myosin VIIB							47.0	55.0	52.0					2																	128389239		2200	4284	6484	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128389239C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5082C>A	2.37:g.128389239C>A	ENSP00000386461:p.Asp1694Glu					MYO7B_ENST00000409816.2_Missense_Mutation_p.D1694E|MYO7B_ENST00000409090.1_Missense_Mutation_p.D547E|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1694E	p.D1695E			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	37	5138	+	Colorectal(110;0.1)		1694			MyTH4 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5085C>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.198301	0.79015	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.23	2.4	0.29515	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.81682	2.555	0.42207	D	0.991795	D	0.89917	1.0	D	0.77557	0.99	D	0.92548	0.6047	10	0.51188	T	0.08	.	9.07	0.36486	0.0:0.7101:0.0:0.2899	.	1694	Q6PIF6	MYO7B_HUMAN	E	1695;1694;790;1694;547	ENSP00000374175:D1695E;ENSP00000415090:D1694E;ENSP00000386461:D1694E;ENSP00000386850:D547E	ENSP00000272666:D790E	D	+	3	2	MYO7B	128105709	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.417000	0.34770	0.579000	0.29504	0.563000	0.77884	GAC		0.647	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		4	56	1	0	0.014758	1	0.015072	4	56				
TMEM150C	441027	broad.mit.edu	37	4	83417256	83417256	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:83417256C>T	ENST00000515780.2	-	6	532	c.328G>A	c.(328-330)Gct>Act	p.A110T	RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000508701.1_Missense_Mutation_p.A110T|TMEM150C_ENST00000449862.2_Missense_Mutation_p.A110T			B9EJG8	T150C_HUMAN	transmembrane protein 150C	110						integral component of membrane (GO:0016021)				ovary(1)	1						CCGAAGGAAGCCAGACACAGA	0.453																																						ENST00000449862.2																			0				ovary(1)	1						c.(328-330)Gct>Act		transmembrane protein 150C							93.0	95.0	95.0					4																	83417256		1917	4136	6053	SO:0001583	missense	441027					integral to membrane		g.chr4:83417256C>T	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.328G>A	4.37:g.83417256C>T	ENSP00000420919:p.Ala110Thr					RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000515780.1_Missense_Mutation_p.A110T|TMEM150C_ENST00000508701.1_Missense_Mutation_p.A110T	p.A110T	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN			6	646	-			110					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	c.328G>A	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857581	0.51376	.	.	ENSG00000249242	ENST00000449862;ENST00000515780;ENST00000508701	T;T;T	0.43688	0.94;0.94;0.94	5.59	4.74	0.60224	.	.	.	.	.	T	0.25827	0.0629	N	0.20986	0.625	0.40503	D	0.980661	B;B	0.23377	0.084;0.021	B;B	0.18561	0.022;0.013	T	0.08229	-1.0732	9	0.16420	T	0.52	-6.5083	9.2741	0.37690	0.1461:0.7819:0.0:0.072	.	110;110	B9EJG8-2;B9EJG8	.;T150C_HUMAN	T	110	ENSP00000403438:A110T;ENSP00000420919:A110T;ENSP00000421812:A110T	ENSP00000403438:A110T	A	-	1	0	TMEM150C	83636280	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.050000	0.41297	1.333000	0.45449	0.305000	0.20034	GCT		0.453	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		13	90	0	0	0	1	0	13	90				
CYP8B1	1582	broad.mit.edu	37	3	42916689	42916689	+	Missense_Mutation	SNP	C	C	T	rs368892456		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:42916689C>T	ENST00000316161.4	-	1	944	c.620G>A	c.(619-621)cGc>cAc	p.R207H	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R207H|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	207					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCAAACTTGCGGAACTCCAT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20547	0.001		0.0	False		,,,				2504	0.0					ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(619-621)cGc>cAc		cytochrome P450, family 8, subfamily B, polypeptide 1		C	HIS/ARG	0,4406		0,0,2203	51.0	51.0	51.0		620	2.8	0.0	3		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP8B1	NM_004391.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/502	42916689	1,13005	2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916689C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.620G>A	3.37:g.42916689C>T	ENSP00000318867:p.Arg207His					ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R207H	p.R207H	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	944	-			207					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.620G>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340905	0.41498	0.0	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.68765	-0.35;-0.35	5.56	2.77	0.32553	.	0.066079	0.64402	D	0.000011	T	0.74321	0.3701	M	0.77313	2.365	0.43756	D	0.996266	D;D	0.63880	0.993;0.987	D;P	0.64042	0.921;0.809	T	0.69529	-0.5121	10	0.20046	T	0.44	-8.1441	6.2286	0.20722	0.264:0.5925:0.0:0.1435	.	207;207	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	H	207	ENSP00000404499:R207H;ENSP00000318867:R207H	ENSP00000318867:R207H	R	-	2	0	CYP8B1	42891693	0.995000	0.38212	0.001000	0.08648	0.001000	0.01503	3.272000	0.51616	0.289000	0.22422	-0.320000	0.08662	CGC		0.527	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		5	98	0	0	0	1	0	5	98				
TTN	7273	broad.mit.edu	37	2	179500810	179500810	+	Missense_Mutation	SNP	C	C	T	rs149059189		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:179500810C>T	ENST00000591111.1	-	176	36789	c.36565G>A	c.(36565-36567)Gtc>Atc	p.V12189I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4765I|TTN_ENST00000589042.1_Missense_Mutation_p.V13830I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11262I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4957I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4890I			Q8WZ42	TITIN_HUMAN	titin	12189	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCAATGACGCCTGGCACA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17548	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41488-41490)Gtc>Atc		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	5,4073		0,5,2034	87.0	90.0	89.0		14869,14668,33784,14293	-0.1	0.0	2	dbSNP_134	89	0,8364		0,0,4182	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,5,6216	TT,TC,CC		0.0,0.1226,0.0402	benign,benign,benign,benign	4957/27119,4890/27052,11262/33424,4765/26927	179500810	5,12437	2039	4182	6221	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500810C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36565G>A	2.37:g.179500810C>T	ENSP00000465570:p.Val12189Ile					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4957I|TTN_ENST00000359218.5_Missense_Mutation_p.V4890I|TTN_ENST00000342992.6_Missense_Mutation_p.V11262I|TTN_ENST00000460472.2_Missense_Mutation_p.V4765I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12189I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.V13830I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	41712	-			12189			Ig-like 94.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.41488G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.187	0.220128	0.09863	0.001226	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.8	-0.0788	0.13713	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03915	0.0110	N	0.17474	0.49	0.19775	N	0.999951	B;B;B;B	0.16802	0.019;0.019;0.019;0.019	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.39761	-0.9598	9	0.87932	D	0	.	12.0671	0.53594	0.0:0.5175:0.0:0.4825	.	4765;4890;4957;12189	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	11262;4765;4957;4890;4765	ENSP00000343764:V11262I;ENSP00000434586:V4765I;ENSP00000340554:V4957I;ENSP00000352154:V4890I	ENSP00000340554:V4957I	V	-	1	0	TTN	179209055	0.003000	0.15002	0.015000	0.15790	0.197000	0.23852	0.055000	0.14229	-0.306000	0.08818	-0.237000	0.12165	GTC		0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	75	0	0	0	1	0	17	75				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	36	0	0	0	1	0	5	36				
GRAMD1C	54762	broad.mit.edu	37	3	113563352	113563352	+	Silent	SNP	G	G	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:113563352G>T	ENST00000358160.4	+	2	522	c.30G>T	c.(28-30)gtG>gtT	p.V10V	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	10						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTTTCCAGGTGATGAATGAAG	0.318																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(28-30)gtG>gtT		GRAM domain containing 1C							101.0	105.0	103.0					3																	113563352		2203	4300	6503	SO:0001819	synonymous_variant	54762					integral to membrane		g.chr3:113563352G>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.30G>T	3.37:g.113563352G>T						GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	p.V10V	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			2	522	+			10					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	c.30G>T	CCDS33826.1																																																																																				0.318	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		4	71	1	0	1	1	1	4	71				
CDH1	999	broad.mit.edu	37	16	68846137	68846137	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:68846137G>A	ENST00000261769.5	+	8	1299	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CDH1_ENST00000422392.2_Missense_Mutation_p.D370N|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	370	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> A (in a diffuse gastric cancer sample). {ECO:0000269|PubMed:8033105}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.D370H(3)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGACACCAACGATAATCCTCC	0.458			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		5	Substitution - Missense(3)|Unknown(1)|Deletion - In frame(1)	p.D370H(3)|p.S337_T379del(1)|p.?(1)	stomach(4)|breast(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1108-1110)Gat>Aat		cadherin 1, type 1, E-cadherin (epithelial)							173.0	134.0	147.0					16																	68846137		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68846137G>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1108G>A	16.37:g.68846137G>A	ENSP00000261769:p.Asp370Asn					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D370N	p.D370N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	8	1299	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	370		D -> A (in a diffuse gastric cancer sample).	Cadherin 2.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1108G>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197295	0.79015	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.65549	-0.08;-0.16	5.72	5.72	0.89469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.52532	D	0.000072	D	0.82774	0.5110	M	0.87038	2.855	0.58432	D	0.999998	P;D	0.89917	0.905;1.0	P;D	0.77557	0.524;0.99	D	0.84769	0.0766	10	0.66056	D	0.02	.	19.4813	0.95011	0.0:0.0:1.0:0.0	.	370;370	Q9UII8;P12830	.;CADH1_HUMAN	N	370	ENSP00000261769:D370N;ENSP00000414946:D370N	ENSP00000261769:D370N	D	+	1	0	CDH1	67403638	1.000000	0.71417	0.976000	0.42696	0.060000	0.15804	9.416000	0.97383	2.712000	0.92718	0.555000	0.69702	GAT		0.458	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		18	63	0	0	0	1	0	18	63				
COL5A1	1289	broad.mit.edu	37	9	137704486	137704486	+	Silent	SNP	C	C	T	rs150591401	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr9:137704486C>T	ENST00000371817.3	+	48	4194	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1260	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCCTCCGGAGCTCCAG	0.637																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3778-3780)tcC>tcT		collagen, type V, alpha 1		C		3,4399		0,3,2198	28.0	26.0	26.0		3780	-4.2	1.0	9	dbSNP_134	26	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,3,6498	TT,TC,CC		0.0,0.0682,0.0231		1260/1839	137704486	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137704486C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3780C>T	9.37:g.137704486C>T							p.S1260S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	48	4194	+		Myeloproliferative disorder(178;0.0341)	1260			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.3780C>T	CCDS6982.1																																																																																				0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	10	0	0	0	1	0	4	10				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	75	0	0	0	1	0	4	75				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	50	0	0	0	1	0	4	50				
LRRC37A11P	342666	broad.mit.edu	37	17	37188187	37188187	+	RNA	SNP	G	G	A	rs57993280	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:37188187G>A	ENST00000425901.2	+	0	2029					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		CACTTCCACCGCCAGACAAGG	0.488													G|||	14	0.00279553	0.0091	0.0029	5008	,	,		22889	0.0		0.0	False		,,,				2504	0.0					ENST00000425901.2																			0																																																			0							g.chr17:37188187G>A			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188187G>A								NR_033753.2						0	2029	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.488	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		40	93	0	0	0	1	0	40	93				
ATF7IP2	80063	broad.mit.edu	37	16	10524502	10524502	+	Missense_Mutation	SNP	C	C	T	rs140651559		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:10524502C>T	ENST00000396560.2	+	3	252	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9W|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9W|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9W	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TAGAAGTAAACGGAAGATATT	0.348																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(25-27)Cgg>Tgg		activating transcription factor 7 interacting protein 2		C	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	64.0	62.0	62.0		25	2.7	0.8	16	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ATF7IP2	NM_024997.2	101	0,2,6494	TT,TC,CC		0.0116,0.0228,0.0154	probably-damaging	9/683	10524502	2,12990	2197	4299	6496	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524502C>T	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.25C>T	16.37:g.10524502C>T	ENSP00000379808:p.Arg9Trp					ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9W|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9W|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9W|ATF7IP2_ENST00000543967.1_Intron	p.R9W	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	252	+			9					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.25C>T	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164247	0.57476	2.28E-4	1.16E-4	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.30714	1.52;1.52	4.73	2.67	0.31697	.	0.325526	0.21983	N	0.066280	T	0.42539	0.1207	L	0.44542	1.39	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.95	T	0.16928	-1.0386	10	0.87932	D	0	-0.1419	9.5374	0.39231	0.384:0.616:0.0:0.0	.	9;9	Q5U623-2;Q5U623	.;MCAF2_HUMAN	W	9	ENSP00000379808:R9W;ENSP00000348799:R9W	ENSP00000322811:R9W	R	+	1	2	ATF7IP2	10432003	0.611000	0.26992	0.763000	0.31416	0.967000	0.64934	0.902000	0.28459	0.534000	0.28695	0.467000	0.42956	CGG		0.348	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		9	41	0	0	0	1	0	9	41				
AOX1	316	broad.mit.edu	37	2	201478596	201478596	+	Silent	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:201478596G>A	ENST00000374700.2	+	15	1759	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	506					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTTGGGCTCGGCGCCAGGTG	0.473																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1516-1518)tcG>tcA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						94.0	90.0	92.0					2																	201478596		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478596G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1518G>A	2.37:g.201478596G>A						AOX1_ENST00000485106.1_3'UTR	p.S506S	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			15	1759	+			506					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1518G>A	CCDS33360.1																																																																																				0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		11	35	0	0	0	1	0	11	35				
NISCH	11188	broad.mit.edu	37	3	52489675	52489675	+	Silent	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:52489675C>T	ENST00000479054.1	+	2	90	c.18C>T	c.(16-18)acC>acT	p.T6T	NISCH_ENST00000420808.2_Silent_p.T6T|NISCH_ENST00000345716.4_Silent_p.T6T|TNNC1_ENST00000232975.3_5'Flank|NISCH_ENST00000488380.1_Silent_p.T6T			Q9Y2I1	NISCH_HUMAN	nischarin	6	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCGCGCGCACCTTCGGGCCCG	0.746																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(16-18)acC>acT		nischarin							5.0	7.0	6.0					3																	52489675		1747	3693	5440	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52489675C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.18C>T	3.37:g.52489675C>T						NISCH_ENST00000488380.1_Silent_p.T6T|NISCH_ENST00000479054.1_Silent_p.T6T|NISCH_ENST00000420808.2_Silent_p.T6T	p.T6T	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	1	152	+			6			Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.18C>T	CCDS33767.1																																																																																				0.746	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		4	10	0	0	0	1	0	4	10				
DCLK2	166614	broad.mit.edu	37	4	151153904	151153904	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:151153904A>G	ENST00000296550.7	+	10	2244	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	DCLK2_ENST00000302176.8_Missense_Mutation_p.Y514C|DCLK2_ENST00000506325.1_Missense_Mutation_p.Y496C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCATGGTGTACAACTTAGCC	0.448																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(1489-1491)tAc>tGc		doublecortin-like kinase 2							269.0	232.0	245.0					4																	151153904		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151153904A>G	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1490A>G	4.37:g.151153904A>G	ENSP00000296550:p.Tyr497Cys					DCLK2_ENST00000506325.1_Missense_Mutation_p.Y496C|DCLK2_ENST00000302176.8_Missense_Mutation_p.Y514C	p.Y497C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			10	2244	+	all_hematologic(180;0.151)		497			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1490A>G	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524659	0.44969	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.40476	1.03;1.03;1.03	6.02	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175198	0.52532	D	0.000062	T	0.44705	0.1306	L	0.28014	0.82	0.50171	D	0.999852	D;D;B	0.63046	0.991;0.992;0.033	P;P;B	0.57324	0.818;0.794;0.091	T	0.31943	-0.9925	10	0.40728	T	0.16	.	12.7123	0.57096	0.8766:0.0:0.0:0.1234	.	514;496;497	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	C	497;496;514	ENSP00000296550:Y497C;ENSP00000427235:Y496C;ENSP00000303887:Y514C	ENSP00000296550:Y497C	Y	+	2	0	DCLK2	151373354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.126000	0.64721	1.080000	0.41073	0.533000	0.62120	TAC		0.448	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		28	147	0	0	0	1	0	28	147				
NRP2	8828	broad.mit.edu	37	2	206605324	206605324	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:206605324C>T	ENST00000357785.5	+	8	1259	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000540178.1_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C|NRP2_ENST00000412873.2_Missense_Mutation_p.R410C|NRP2_ENST00000360409.3_Missense_Mutation_p.R410C|NRP2_ENST00000272849.3_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R410C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTAGAATCCGCCCTCAGAC	0.557																																						ENST00000360409.3																			1	Substitution - Missense(1)	p.R410C(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1228-1230)Cgc>Tgc		neuropilin 2							127.0	106.0	113.0					2																	206605324		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206605324C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1228C>T	2.37:g.206605324C>T	ENSP00000350432:p.Arg410Cys					NRP2_ENST00000540178.1_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C|NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000272849.3_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000357785.5_Missense_Mutation_p.R410C|NRP2_ENST00000412873.2_Missense_Mutation_p.R410C	p.R410C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			8	2019	+			410			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1228C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780182	0.70222	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.97	5.1	0.69264	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.996;0.996;0.993	D	0.98708	1.0703	10	0.72032	D	0.01	-25.332	15.1719	0.72881	0.0:0.9326:0.0:0.0674	.	410;410;410;410;410;410	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	410	ENSP00000353582:R410C;ENSP00000439658:R410C;ENSP00000439261:R410C;ENSP00000347238:R410C;ENSP00000387519:R410C;ENSP00000349632:R410C;ENSP00000350432:R410C;ENSP00000407626:R410C;ENSP00000272849:R410C	ENSP00000272849:R410C	R	+	1	0	NRP2	206313569	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	2.780000	0.47742	1.546000	0.49388	-0.136000	0.14681	CGC		0.557	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			20	69	0	0	0	1	0	20	69				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	47	0	0	0	1	0	4	47				
KCNU1	157855	broad.mit.edu	37	8	36671862	36671862	+	Silent	SNP	G	G	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:36671862G>T	ENST00000399881.3	+	8	907	c.870G>T	c.(868-870)cgG>cgT	p.R290R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	290					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTAGGACGGACCTTCATCA	0.353																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(868-870)cgG>cgT		potassium channel, subfamily U, member 1							70.0	65.0	66.0					8																	36671862		1858	4096	5954	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671862G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.870G>T	8.37:g.36671862G>T							p.R290R	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	8	907	+			290						Silent	SNP	ENST00000399881.3	37	c.870G>T	CCDS55220.1																																																																																				0.353	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		10	18	1	0	3.07112e-06	1	3.35031e-06	10	18				
PCBP1	5093	broad.mit.edu	37	2	70315908	70315908	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:70315908G>C	ENST00000303577.5	+	1	1324	c.1033G>C	c.(1033-1035)Gcc>Ccc	p.A345P	PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	345					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCTAATCAATGCCAGGCTTTC	0.498																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(1033-1035)Gcc>Ccc		poly(rC) binding protein 1							35.0	37.0	36.0					2																	70315908		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315908G>C		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.1033G>C	2.37:g.70315908G>C	ENSP00000305556:p.Ala345Pro					PCBP1-AS1_ENST00000596028.1_RNA	p.A345P	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	1324	+			345					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.1033G>C	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747685	0.69533	.	.	ENSG00000169564	ENST00000303577	T	0.33865	1.39	3.66	3.66	0.41972	K Homology (1);	0.133205	0.49916	D	0.000127	T	0.53465	0.1798	M	0.77820	2.39	0.58432	D	0.999998	D	0.56746	0.977	P	0.58266	0.836	T	0.54309	-0.8313	10	0.33141	T	0.24	.	13.6516	0.62314	0.0:0.0:1.0:0.0	.	345	Q15365	PCBP1_HUMAN	P	345	ENSP00000305556:A345P	ENSP00000305556:A345P	A	+	1	0	PCBP1	70169412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.512000	0.98008	2.345000	0.79718	0.563000	0.77884	GCC		0.498	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		13	37	0	0	0	1	0	13	37				
KIAA1324	57535	broad.mit.edu	37	1	109716150	109716150	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:109716150G>A	ENST00000369939.3	+	6	934	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V251I	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	251					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCCTTCTCAGTATGGACCAA	0.453																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(751-753)Gta>Ata		KIAA1324							171.0	152.0	159.0					1																	109716150		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109716150G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.751G>A	1.37:g.109716150G>A	ENSP00000358955:p.Val251Ile					KIAA1324_ENST00000529753.1_Missense_Mutation_p.V251I	p.V251I	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	6	934	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	251					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.751G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	6.037	0.375217	0.11409	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.29397	1.57;1.57;1.57	5.1	4.15	0.48705	.	0.232106	0.36555	N	0.002534	T	0.15305	0.0369	L	0.39898	1.24	0.19575	N	0.999961	P;B;P;P	0.49090	0.841;0.4;0.919;0.838	B;B;P;B	0.46659	0.441;0.121;0.523;0.437	T	0.06552	-1.0820	10	0.21014	T	0.42	-9.242	12.527	0.56091	0.0:0.0:0.7018:0.2982	.	251;251;251;251	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	I	251	ENSP00000358955:V251I;ENSP00000393964:V251I;ENSP00000434595:V251I	ENSP00000358955:V251I	V	+	1	0	KIAA1324	109517673	0.559000	0.26562	1.000000	0.80357	0.454000	0.32378	0.952000	0.29149	2.383000	0.81215	0.645000	0.84053	GTA		0.453	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		13	72	0	0	0	1	0	13	72				
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233246473	233246475	+	In_Frame_Del	DEL	CTG	CTG	-	rs1048998	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:233246473_233246475delCTG	ENST00000392027.2	+	11	1845_1847	c.1576_1578delCTG	c.(1576-1578)ctgdel	p.L529del	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	529					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCCGGGACCCTGCTGCTGCTGG	0.734																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1576-1578)del		alkaline phosphatase, placental																																				SO:0001651	inframe_deletion	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246473_233246475delCTG	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1576_1578delCTG	2.37:g.233246482_233246484delCTG	ENSP00000375881:p.Leu529del						p.L529del	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1845_1847	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	529					P05188|P06861|Q53S78|Q96DB7	In_Frame_Del	DEL	ENST00000392027.2	37	c.1576_1578delCTG	CCDS2490.1																																																																																				0.734	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		2	4						2	4	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579																																						ENST00000463781.3																			3	Insertion - In frame(3)	p.S2026_T2027insS(3)	large_intestine(2)|breast(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6076-6078)tac>tATCac		mucin 4, cell surface associated			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6536_6537	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	4						2	4	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81155068	81155069	+	RNA	INS	-	-	A	rs557576474|rs377651946		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:81155068_81155069insA	ENST00000534142.1	-	0	1000				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						gactccatctcaaaaaaaaaaa	0.525																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81155068_81155069insA	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81155079_81155079dupA						PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	4667	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	INS	ENST00000534142.1	37																																																																																						0.525	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			2	4						2	4	---	---	---	---
