#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
MST1L	11223	broad.mit.edu	37	1	17085872	17085872	+	RNA	SNP	A	A	G	rs1806514		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:17085872A>G	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.W307R(1)|p.W317R(1)									TCGAGGTTCCAGCAGAAGTTC	0.662																																						uc010ock.2																			2	Substitution - Missense(2)	p.W307R(1)|p.W317R(1)	prostate(2)	breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						c.(949-951)Tgg>Cgg		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.																																						11223							g.chr1:17085872A>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085872A>G						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR	p.W317R							7	949	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.949T>C		.	.	.	.	.	.	.	.	.	.	.	0.008	-1.910101	0.00508	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.000000	0.37857	N	0.001920	T	0.10809	0.0264	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.28073	-1.0055	6	0.02654	T	1	.	2.1243	0.03734	0.4998:2.0E-4:2.0E-4:0.4998	rs1806514;rs2021016;rs2761537;rs3982178;rs61595267	317	Q2TV78-2	.	R	307;317;317	.	ENSP00000439273:W317R	W	-	1	0	MST1P9	16958459	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.935000	0.40173	-0.000000	0.14550	0.000000	0.15137	TGG		0.662	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
CYP4B1	1580	broad.mit.edu	37	1	47282802	47282802	+	Missense_Mutation	SNP	C	C	T	rs576551322		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:47282802C>T	ENST00000271153.4	+	9	1189	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R223C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R386C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R371C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	385					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCAGGTGTACCGCCAGCTCAG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18857	0.001		0.0	False		,,,				2504	0.0					uc001cqn.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1156-1158)Cgc>Tgc		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							106.0	99.0	101.0					1																	47282802		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47282802C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1153C>T	1.37:g.47282802C>T	ENSP00000271153:p.Arg385Cys					CYP4B1_uc001cqm.4_Missense_Mutation_p.R385C|CYP4B1_uc009vym.3_Missense_Mutation_p.R371C|CYP4B1_uc010omk.2_Missense_Mutation_p.R222C	p.R386C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			8	1240	+	Acute lymphoblastic leukemia(166;0.155)		385					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1156C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317246	0.60524	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	D;D;T;D;D	0.89485	-2.52;-2.52;-1.45;-2.52;-2.52	5.82	1.96	0.26148	.	0.048597	0.85682	N	0.000000	D	0.93363	0.7884	M	0.94101	3.495	0.80722	D	1	P;D;D	0.55800	0.861;0.967;0.973	P;P;P	0.56865	0.467;0.709;0.808	D	0.91094	0.4909	10	0.87932	D	0	.	6.4258	0.21768	0.1178:0.6517:0.0:0.2305	.	371;386;385	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	386;385;371;223;222	ENSP00000360991:R386C;ENSP00000271153:R385C;ENSP00000360987:R371C;ENSP00000400413:R223C;ENSP00000437670:R222C	ENSP00000271153:R385C	R	+	1	0	CYP4B1	47055389	0.988000	0.35896	0.999000	0.59377	0.976000	0.68499	2.643000	0.46604	0.120000	0.18254	-0.782000	0.03352	CGC		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
PLXNA2	5362	broad.mit.edu	37	1	208269395	208269395	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:208269395T>G	ENST00000367033.3	-	8	2718	c.1961A>C	c.(1960-1962)tAc>tCc	p.Y654S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	654					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTGCAGTTGTAAAACTTGAA	0.478																																						uc001hgz.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1960-1962)tAc>tCc		Homo sapiens plexin A2 (PLXNA2), mRNA.							295.0	310.0	305.0					1																	208269395		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208269395T>G	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1961A>C	1.37:g.208269395T>G	ENSP00000356000:p.Tyr654Ser						p.Y654S	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	7	2719	-			654					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1961A>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412264	0.83340	.	.	ENSG00000076356	ENST00000367033	T	0.01272	5.07	5.07	5.07	0.68467	.	0.057842	0.64402	D	0.000001	T	0.08980	0.0222	M	0.86864	2.845	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	T	0.00624	-1.1639	10	0.87932	D	0	.	14.9893	0.71374	0.0:0.0:0.0:1.0	.	654	O75051	PLXA2_HUMAN	S	654	ENSP00000356000:Y654S	ENSP00000356000:Y654S	Y	-	2	0	PLXNA2	206336018	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.683000	0.68189	2.129000	0.65627	0.528000	0.53228	TAC		0.478	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
CACNB2	783	broad.mit.edu	37	10	18828173	18828173	+	Silent	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:18828173T>C	ENST00000324631.7	+	14	1563	c.1503T>C	c.(1501-1503)gaT>gaC	p.D501D	CACNB2_ENST00000352115.6_Silent_p.D477D|CACNB2_ENST00000377329.4_Silent_p.D447D|CACNB2_ENST00000282343.8_Silent_p.D473D|CACNB2_ENST00000377331.2_Silent_p.D449D|CACNB2_ENST00000377319.3_Silent_p.D408D|CACNB2_ENST00000377315.4_Silent_p.D453D|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000396576.2_Silent_p.D446D|CACNB2_ENST00000377328.1_Silent_p.D251D|RP11-499P20.2_ENST00000436485.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	501				D -> H (in Ref. 5; AAD33729/AAD33730). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCAAGGTGATCAGAGGACTG	0.527																																						uc001ipr.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1501-1503)gaT>gaC		Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						99.0	90.0	93.0					10																	18828173		2203	4300	6503	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828173T>C	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1503T>C	10.37:g.18828173T>C						CACNB2_uc001ipt.2_Silent_p.D463D|CACNB2_uc009xjz.1_Silent_p.D251D|CACNB2_uc001ips.2_Silent_p.D477D|CACNB2_uc001ipu.3_Silent_p.D473D|CACNB2_uc001ipv.3_Silent_p.D449D|CACNB2_uc009xka.2_Silent_p.D435D|CACNB2_uc001ipw.2_Silent_p.D408D|CACNB2_uc001ipx.2_Silent_p.D446D|CACNB2_uc001ipz.2_Silent_p.D423D|CACNB2_uc001ipy.2_Silent_p.D447D|CACNB2_uc010qco.1_Silent_p.D415D|CACNB2_uc001iqa.2_Silent_p.D453D|NSUN6_uc001iqb.3_Non-coding_Transcript	p.D501D	NM_201596	NP_963890	Q08289	CACB2_HUMAN			13	1563	+			501	D -> H (in Ref. 3; AAD33729/AAD33730).				A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.1503T>C	CCDS7125.1																																																																																				0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724	
ACTA2	59	broad.mit.edu	37	10	90707027	90707027	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:90707027G>A	ENST00000458208.1	-	3	720	c.246C>T	c.(244-246)gaC>gaT	p.D82D	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Silent_p.D82D|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	82					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTCCATGTCGTCCCAGTTGG	0.502																																						uc001kfp.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.(244-246)gaC>gaT		Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.							349.0	280.0	303.0					10																	90707027		2203	4300	6503	SO:0001819	synonymous_variant	59				response to virus	cytosol	ATP binding	g.chr10:90707027G>A	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.246C>T	10.37:g.90707027G>A						STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Silent_p.D37D|ACTA2_uc001kfq.3_Silent_p.D82D|ACTA2_uc010qmz.1_Silent_p.D82D	p.D82D	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	2	362	-		Colorectal(252;0.0161)	82					B2R8A4|P03996|P04108|Q6FI19	Silent	SNP	ENST00000458208.1	37	c.246C>T	CCDS7392.1																																																																																				0.502	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	
HTR7	3363	broad.mit.edu	37	10	92616992	92616992	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:92616992C>T	ENST00000336152.3	-	1	463	c.437G>A	c.(436-438)gGc>gAc	p.G146D	HTR7_ENST00000277874.6_Missense_Mutation_p.G146D|HTR7_ENST00000371719.2_Missense_Mutation_p.G146D|HTR7_ENST00000371721.3_Missense_Mutation_p.G146D	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	146					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCACTTGCCCCCGATGAG	0.592																																						uc001kha.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(436-438)gGc>gAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						69.0	58.0	61.0					10																	92616992		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92616992C>T	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.437G>A	10.37:g.92616992C>T	ENSP00000337949:p.Gly146Asp					HTR7_uc001kgz.3_Missense_Mutation_p.G146D|HTR7_uc001khb.3_Missense_Mutation_p.G146D	p.G146D	NM_019859	NP_062873	P34969	5HT7R_HUMAN			0	680	-			146					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.437G>A	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930705	0.92389	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.86849	0.2022	10	0.56958	D	0.05	.	18.2215	0.89903	0.0:1.0:0.0:0.0	.	146;146	P34969;P34969-2	5HT7R_HUMAN;.	D	146	ENSP00000337949:G146D;ENSP00000277874:G146D;ENSP00000360784:G146D;ENSP00000360786:G146D	ENSP00000277874:G146D	G	-	2	0	HTR7	92606972	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.082000	0.71318	2.309000	0.77851	0.563000	0.77884	GGC		0.592	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
OR52N1	79473	broad.mit.edu	37	11	5809262	5809262	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:5809262A>G	ENST00000317078.1	-	1	784	c.785T>C	c.(784-786)tTt>tCt	p.F262S	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGGTGTGTAAAGAAGGTAAA	0.453																																						uc010qzo.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(784-786)tTt>tCt		Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.							168.0	157.0	161.0					11																	5809262		2125	4094	6219	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809262A>G	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.785T>C	11.37:g.5809262A>G	ENSP00000322823:p.Phe262Ser					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	p.F262S	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	0	785	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	262					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.785T>C	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516022	0.64634	.	.	ENSG00000181001	ENST00000317078	T	0.38722	1.12	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000586	T	0.61702	0.2368	M	0.65975	2.015	0.32637	N	0.521219	D	0.89917	1.0	D	0.85130	0.997	T	0.72676	-0.4221	10	0.87932	D	0	.	13.4223	0.61005	1.0:0.0:0.0:0.0	.	262	Q8NH53	O52N1_HUMAN	S	262	ENSP00000322823:F262S	ENSP00000322823:F262S	F	-	2	0	OR52N1	5765838	0.870000	0.30015	0.999000	0.59377	0.651000	0.38670	5.780000	0.68956	2.088000	0.63022	0.491000	0.48974	TTT		0.453	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913	
NAV2	89797	broad.mit.edu	37	11	20065785	20065785	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:20065785G>A	ENST00000396087.3	+	14	3334	c.3235G>A	c.(3235-3237)Gcc>Acc	p.A1079T	NAV2_ENST00000527559.2_Missense_Mutation_p.A1008T|NAV2_ENST00000533917.1_Missense_Mutation_p.A142T|NAV2_ENST00000540292.1_Missense_Mutation_p.A1010T|NAV2_ENST00000349880.4_Missense_Mutation_p.A1056T|NAV2_ENST00000360655.4_Missense_Mutation_p.A992T|NAV2_ENST00000396085.1_Missense_Mutation_p.A1056T|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.A142T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1079					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAGCCTTCAGCCCCGGCAGG	0.567																																						uc010rdm.2																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(3235-3237)Gcc>Acc		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.							42.0	39.0	40.0					11																	20065785		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20065785G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3235G>A	11.37:g.20065785G>A	ENSP00000379396:p.Ala1079Thr					NAV2_uc001mpp.3_Missense_Mutation_p.A992T|NAV2_uc001mpr.4_Missense_Mutation_p.A1056T|NAV2_uc021qew.1_Missense_Mutation_p.A1056T|NAV2_uc001mpt.2_Missense_Mutation_p.A142T|NAV2_uc009yhx.3_Missense_Mutation_p.A142T|NAV2_uc009yhy.1_Missense_Mutation_p.A55T	p.A1079T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN			13	3596	+			1079					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3235G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036747	0.54896	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.29655	1.64;1.74;1.75;1.74;1.64;1.63;3.27;1.95;1.56;3.27	5.51	3.65	0.41850	.	0.133458	0.38005	N	0.001843	T	0.14874	0.0359	N	0.11427	0.14	0.39775	D	0.972214	B;B;B;B;B	0.12013	0.005;0.003;0.004;0.002;0.004	B;B;B;B;B	0.13407	0.006;0.004;0.009;0.003;0.005	T	0.09314	-1.0680	9	.	.	.	.	9.8041	0.40781	0.2248:0.0:0.7752:0.0	.	1079;142;142;1056;992	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	T	992;1056;1056;1079;1008;1010;142;142;142;142;142	ENSP00000353871:A992T;ENSP00000379394:A1056T;ENSP00000309577:A1056T;ENSP00000379396:A1079T;ENSP00000435395:A1008T;ENSP00000443489:A1010T;ENSP00000437316:A142T;ENSP00000437136:A142T;ENSP00000431276:A142T;ENSP00000312169:A142T	.	A	+	1	0	NAV2	20022361	0.679000	0.27596	0.753000	0.31225	0.529000	0.34654	1.006000	0.29847	1.339000	0.45563	-0.136000	0.14681	GCC		0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
TM7SF2	7108	broad.mit.edu	37	11	64882420	64882420	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:64882420C>T	ENST00000279263.7	+	7	921	c.759C>T	c.(757-759)gaC>gaT	p.D253D	TM7SF2_ENST00000345348.5_Silent_p.D253D|TM7SF2_ENST00000540748.1_Silent_p.D137D|AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	253					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCACACATGACGGGTTTGGCT	0.627																																						uc001ocv.3																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(820-822)gaC>gaT		Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.							189.0	198.0	195.0					11																	64882420		2111	4227	6338	SO:0001819	synonymous_variant	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64882420C>T	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.759C>T	11.37:g.64882420C>T						TM7SF2_uc001oct.3_Silent_p.D253D|TM7SF2_uc010rny.2_Silent_p.D137D|TM7SF2_uc001ocu.3_Silent_p.D253D|BC104003_uc009yqb.1_5'Flank	p.D274D	NM_003273	NP_003264	O76062	ERG24_HUMAN			4	1419	+			253					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	c.822C>T	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866603	0.17250	.	.	ENSG00000149809	ENST00000528802	.	.	.	5.23	-6.76	0.01732	.	.	.	.	.	T	0.47637	0.1456	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51004	-0.8760	4	.	.	.	-16.9462	7.6018	0.28079	0.218:0.1474:0.0:0.6346	.	.	.	.	M	81	.	.	T	+	2	0	TM7SF2	64638996	0.576000	0.26700	0.451000	0.26982	0.989000	0.77384	-0.264000	0.08658	-1.247000	0.02507	-0.367000	0.07326	ACG		0.627	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273	
KCNE3	10008	broad.mit.edu	37	11	74168386	74168386	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:74168386G>A	ENST00000310128.4	-	3	642	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	KCNE3_ENST00000525550.1_Missense_Mutation_p.L75F|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	75					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CCCAGGATGAGGCTGCCCACA	0.512																																						uc021qng.1																			0				cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(223-225)Ctc>Ttc		Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.							65.0	57.0	60.0					11																	74168386		2200	4293	6493	SO:0001583	missense	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168386G>A	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"""Potassium channels"""	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.223C>T	11.37:g.74168386G>A	ENSP00000310557:p.Leu75Phe					KCNE3_uc001ovc.3_Missense_Mutation_p.L75F|KCNE3_uc001ovd.2_Missense_Mutation_p.L75F	p.L75F	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN			0	223	-	Breast(11;2.86e-06)		75						Missense_Mutation	SNP	ENST00000310128.4	37	c.223C>T	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517770	0.85495	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.92911	-3.13;-3.13;-3.13	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000004	D	0.95211	0.8447	M	0.64997	1.995	0.50171	D	0.999856	D	0.76494	0.999	D	0.91635	0.999	D	0.95312	0.8413	10	0.72032	D	0.01	-3.6473	16.3252	0.82977	0.0:0.0:1.0:0.0	.	75	Q9Y6H6	KCNE3_HUMAN	F	75	ENSP00000310557:L75F;ENSP00000433633:L75F;ENSP00000431739:L75F	ENSP00000310557:L75F	L	-	1	0	KCNE3	73846034	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.449000	0.52950	2.714000	0.92807	0.561000	0.74099	CTC		0.512	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472	
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						uc010shk.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aacaag>aag		Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del						p.N168del	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
HIP1R	9026	broad.mit.edu	37	12	123339938	123339938	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr12:123339938G>A	ENST00000253083.4	+	11	1104	c.979G>A	c.(979-981)Gcg>Acg	p.A327T		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	327					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGGGCCCCCCGCGGGGGAGCC	0.677																																						uc001udj.1																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(979-981)Gcg>Acg		Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.							8.0	10.0	9.0					12																	123339938		2141	4247	6388	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123339938G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.979G>A	12.37:g.123339938G>A	ENSP00000253083:p.Ala327Thr					HIP1R_uc001udg.1_Missense_Mutation_p.A315T|HIP1R_uc001udi.1_Missense_Mutation_p.A327T|HIP1R_uc001udk.1_5'Flank	p.A327T	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	10	1038	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		327					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.979G>A	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	2.352	-0.348593	0.05208	.	.	ENSG00000130787	ENST00000253083	T	0.14640	2.49	4.57	1.72	0.24424	.	1.071350	0.07093	N	0.839017	T	0.11324	0.0276	L	0.39898	1.24	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.08055	0.003;0.001;0.003	T	0.43782	-0.9370	10	0.13853	T	0.58	-0.8579	7.9175	0.29827	0.4301:0.0:0.5699:0.0	.	327;327;315	O75146;Q6NXG8;B3KQW8	HIP1R_HUMAN;.;.	T	327	ENSP00000253083:A327T	ENSP00000253083:A327T	A	+	1	0	HIP1R	121905891	0.033000	0.19621	0.000000	0.03702	0.002000	0.02628	1.020000	0.30027	0.063000	0.16370	0.563000	0.77884	GCG		0.677	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959	
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3328-3330)attfs		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914687delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs					SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.I1110fs	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	3917	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1110					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3328delA	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
TNFRSF19	55504	broad.mit.edu	37	13	24233260	24233260	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:24233260G>A	ENST00000382258.4	+	6	721	c.517G>A	c.(517-519)Gtt>Att	p.V173I	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.V173I|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.V41I|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.V173I	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	173					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GCTGGCTGCCGTTATCTGCAG	0.577																																						uc001uov.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(517-519)Gtt>Att		Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.							61.0	58.0	59.0					13																	24233260		2203	4299	6502	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24233260G>A	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.517G>A	13.37:g.24233260G>A	ENSP00000371693:p.Val173Ile					TNFRSF19_uc001uot.3_Missense_Mutation_p.V173I|TNFRSF19_uc010tcu.2_Missense_Mutation_p.V41I|TNFRSF19_uc001uow.3_Missense_Mutation_p.V173I	p.V173I	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	5	721	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	173					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.517G>A	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387268	0.25031	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.62	3.89	0.44902	.	0.106984	0.64402	N	0.000005	T	0.20820	0.0501	L	0.46157	1.445	0.31830	N	0.624795	B;P;P	0.42941	0.141;0.674;0.794	B;B;B	0.31614	0.038;0.133;0.133	T	0.06991	-1.0796	10	0.42905	T	0.14	-26.7307	15.1772	0.72924	0.1282:0.0:0.8718:0.0	.	41;173;173	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	I	173;41;173;173	ENSP00000248484:V173I;ENSP00000385408:V41I;ENSP00000371693:V173I;ENSP00000371698:V173I	ENSP00000248484:V173I	V	+	1	0	TNFRSF19	23131260	1.000000	0.71417	0.010000	0.14722	0.134000	0.20937	5.430000	0.66501	0.340000	0.23745	-0.797000	0.03246	GTT		0.577	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647	
COG6	57511	broad.mit.edu	37	13	40268775	40268775	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:40268775G>T	ENST00000455146.3	+	12	1129	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	COG6_ENST00000416691.1_Missense_Mutation_p.R360L	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	360					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGGTTCGAATTGAGCAA	0.274																																						uc001uxh.2																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1078-1080)cGa>cTa		Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.							45.0	53.0	50.0					13																	40268775		2201	4280	6481	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40268775G>T	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1079G>T	13.37:g.40268775G>T	ENSP00000397441:p.Arg360Leu					COG6_uc001uxi.2_Missense_Mutation_p.R308L|COG6_uc010acb.2_Missense_Mutation_p.R360L	p.R360L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	11	1179	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	360					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.1079G>T	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477090	0.84640	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.73047	-0.71;-0.71	5.8	4.96	0.65561	.	0.061928	0.64402	D	0.000004	D	0.86422	0.5929	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89177	0.3541	10	0.87932	D	0	-6.7191	14.0641	0.64817	0.0721:0.0:0.9279:0.0	.	381;360	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	L	360;391;360	ENSP00000403733:R360L;ENSP00000397441:R360L	ENSP00000255468:R391L	R	+	2	0	COG6	39166775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.587000	0.82613	1.459000	0.47892	0.655000	0.94253	CGA		0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3		
DGKH	160851	broad.mit.edu	37	13	42761271	42761271	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:42761271C>T	ENST00000337343.4	+	14	1646	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000379274.2_Missense_Mutation_p.A406V|DGKH_ENST00000536612.1_Missense_Mutation_p.A406V|DGKH_ENST00000538674.1_Missense_Mutation_p.A297V|DGKH_ENST00000540693.1_Missense_Mutation_p.A542V|DGKH_ENST00000261491.5_Missense_Mutation_p.A542V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	542					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A542V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAGCTGATGCCGTGGCCAGT	0.423																																						uc001uyl.2																			1	Substitution - Missense(1)	p.A542V(2)	prostate(1)	breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1624-1626)gCc>gTc		Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.							110.0	122.0	118.0					13																	42761271		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761271C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1625C>T	13.37:g.42761271C>T	ENSP00000337572:p.Ala542Val					DGKH_uc010tfh.2_Missense_Mutation_p.A542V|DGKH_uc001uym.2_Missense_Mutation_p.A542V|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.A297V|DGKH_uc001uyo.2_Missense_Mutation_p.A406V|DGKH_uc010tfj.2_Missense_Mutation_p.A406V|DGKH_uc001uyp.3_Non-coding_Transcript	p.A542V	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	13	1692	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	542					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1625C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	7.300	0.612818	0.14066	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.79845	-1.31;-1.13;-1.31;-1.3;-1.3;1.93	5.57	5.57	0.84162	.	0.337778	0.31554	N	0.007454	T	0.74496	0.3724	L	0.38531	1.155	0.48040	D	0.999576	B;B;B;B	0.16802	0.0;0.0;0.019;0.0	B;B;B;B	0.17098	0.003;0.007;0.017;0.002	T	0.67738	-0.5593	10	0.19590	T	0.45	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	297;406;542;542	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	542;542;542;406;406;297	ENSP00000440823:A542V;ENSP00000337572:A542V;ENSP00000261491:A542V;ENSP00000368576:A406V;ENSP00000445114:A406V;ENSP00000441308:A297V	ENSP00000261491:A542V	A	+	2	0	DGKH	41659271	0.019000	0.18553	0.352000	0.25734	0.011000	0.07611	2.418000	0.44662	2.630000	0.89119	0.655000	0.94253	GCC		0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	
OR4K1	79544	broad.mit.edu	37	14	20404282	20404282	+	Missense_Mutation	SNP	G	G	A	rs200187960		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:20404282G>A	ENST00000285600.4	+	1	516	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCGGTGGGCGTTCTTCATTC	0.453																																						uc001vwj.2																			0		p.G152G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(457-459)Gtt>Att		Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.		A	ILE/VAL	2,4404		0,2,2201	144.0	138.0	140.0		457	2.2	0.9	14		140	4,8596		0,4,4296	yes	missense	OR4K1	NM_001004063.2	29	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	benign	153/312	20404282	6,13000	2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404282G>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.457G>A	14.37:g.20404282G>A	ENSP00000285600:p.Val153Ile						p.V153I	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	0	516	+	all_cancers(95;0.00108)		153					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.457G>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	6.537	0.467342	0.12402	4.54E-4	4.65E-4	ENSG00000155249	ENST00000285600	T	0.00099	8.73	4.82	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.109902	0.40728	N	0.001021	T	0.00073	0.0002	N	0.11000	0.08	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12142	-1.0559	10	0.28530	T	0.3	.	3.8122	0.08801	0.5793:0.0:0.0931:0.3276	.	153	Q8NGD4	OR4K1_HUMAN	I	153	ENSP00000285600:V153I	ENSP00000285600:V153I	V	+	1	0	OR4K1	19474122	0.000000	0.05858	0.939000	0.37840	0.729000	0.41735	-0.106000	0.10890	0.316000	0.23135	-0.360000	0.07572	GTT		0.453	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		
NIN	51199	broad.mit.edu	37	14	51239180	51239180	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:51239180C>T	ENST00000382041.3	-	9	1010	c.820G>A	c.(820-822)Gat>Aat	p.D274N	NIN_ENST00000530997.2_Missense_Mutation_p.D274N|NIN_ENST00000382043.4_Missense_Mutation_p.D274N|NIN_ENST00000453196.1_Missense_Mutation_p.D274N|NIN_ENST00000389868.3_Missense_Mutation_p.D274N|NIN_ENST00000324330.9_Missense_Mutation_p.D274N|NIN_ENST00000245441.5_Missense_Mutation_p.D274N	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	274					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCACTCTCATCGAAAGACTGG	0.502			T	PDGFRB	MPD																																	uc001wyi.3				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(820-822)Gat>Aat		Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.							89.0	72.0	78.0					14																	51239180		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239180C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.820G>A	14.37:g.51239180C>T	ENSP00000371472:p.Asp274Asn					NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.D274N|NIN_uc001wyk.3_Missense_Mutation_p.D274N|NIN_uc001wyo.3_Missense_Mutation_p.D274N|NIN_uc001wyp.1_Missense_Mutation_p.D236N	p.D274N	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			8	1011	-	all_epithelial(31;0.00244)|Breast(41;0.127)		274					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.820G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110571	0.94292	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	D;T;D;T;D;D;T	0.95756	-3.8;-0.35;-3.8;1.91;-3.8;-3.8;1.91	5.55	5.55	0.83447	EF-hand-like domain (1);	0.091527	0.64402	D	0.000001	D	0.96706	0.8925	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.996;0.996	D	0.97262	0.9905	10	0.72032	D	0.01	-23.6586	18.4857	0.90828	0.0:1.0:0.0:0.0	.	280;274;274;274;274	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	N	274;274;274;274;280;274;274;274;236	ENSP00000245441:D274N;ENSP00000374518:D274N;ENSP00000371474:D274N;ENSP00000371472:D274N;ENSP00000324210:D274N;ENSP00000412391:D274N;ENSP00000398641:D236N	ENSP00000245441:D274N	D	-	1	0	NIN	50308930	1.000000	0.71417	0.983000	0.44433	0.622000	0.37654	7.487000	0.81328	2.613000	0.88420	0.563000	0.77884	GAT		0.502	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
SYT16	83851	broad.mit.edu	37	14	62567295	62567295	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:62567295G>A	ENST00000430451.2	+	6	2005	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	603	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)			p.R583H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACTATGAAGCGTAAAGAGATG	0.483																																						uc001xfu.1																			1	Substitution - Missense(1)	p.R583H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1807-1809)cGt>cAt		Homo sapiens synaptotagmin XVI (SYT16), mRNA.							104.0	105.0	105.0					14																	62567295		2036	4182	6218	SO:0001583	missense	83851							g.chr14:62567295G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1808G>A	14.37:g.62567295G>A	ENSP00000394700:p.Arg603His					SYT16_uc010tse.1_Missense_Mutation_p.R161H	p.R603H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	2005	+			603			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1808G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351401	0.95830	.	.	ENSG00000139973	ENST00000430451	T	0.73152	-0.72	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.83168	-0.0095	10	0.36615	T	0.2	.	19.1089	0.93309	0.0:0.0:1.0:0.0	.	603	Q17RD7	SYT16_HUMAN	H	603	ENSP00000394700:R603H	ENSP00000394700:R603H	R	+	2	0	SYT16	61637048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.507000	0.81676	2.520000	0.84964	0.655000	0.94253	CGT		0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
DCAF5	8816	broad.mit.edu	37	14	69520671	69520671	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:69520671C>T	ENST00000341516.5	-	9	2879	c.2732G>A	c.(2731-2733)aGg>aAg	p.R911K	DCAF5_ENST00000556847.1_Missense_Mutation_p.R829K|DCAF5_ENST00000554215.1_Missense_Mutation_p.R829K|DCAF5_ENST00000557386.1_Missense_Mutation_p.R910K|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	911					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATGAACAGCCCTGCTACTATC	0.473																																						uc001xkp.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(2731-2733)aGg>aAg		Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.							76.0	82.0	80.0					14																	69520671		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69520671C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2732G>A	14.37:g.69520671C>T	ENSP00000341351:p.Arg911Lys					DCAF5_uc001xkq.3_Missense_Mutation_p.R910K	p.R911K	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			8	2951	-			911					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.2732G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145589	0.09134	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.66815	-0.23;-0.05;-0.05;0.39	5.24	4.34	0.51931	.	0.232336	0.37348	N	0.002125	T	0.38295	0.1035	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29761	-1.0001	10	0.02654	T	1	-11.2967	5.4204	0.16398	0.0:0.6583:0.0:0.3417	.	910;911	G3V4J7;Q96JK2	.;DCAF5_HUMAN	K	911;829;829;910	ENSP00000341351:R911K;ENSP00000451551:R829K;ENSP00000452052:R829K;ENSP00000451845:R910K	ENSP00000341351:R911K	R	-	2	0	DCAF5	68590424	0.999000	0.42202	1.000000	0.80357	0.894000	0.52154	1.464000	0.35288	1.419000	0.47118	0.561000	0.74099	AGG		0.473	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861	
ADAM21P1	145241	broad.mit.edu	37	14	70712661	70712661	+	RNA	SNP	G	G	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:70712661G>C	ENST00000530196.1	-	0	1857					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TCTTGGAGAAGAGGAATGTCT	0.398																																						uc010ttg.2																			0											c.(1207-1209)Ctt>Gtt		Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																																						145241							g.chr14:70712661G>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70712661G>C							p.L403V							0	1858	-									Missense_Mutation	SNP	ENST00000530196.1	37	c.1207C>G																																																																																					0.398	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467	
EIF2AK4	440275	broad.mit.edu	37	15	40280263	40280263	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:40280263T>C	ENST00000263791.5	+	15	2526	c.2483T>C	c.(2482-2484)cTt>cCt	p.L828P	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.L800P	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	828	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTCTGGAGGCTTTTTCGAGAG	0.393																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2482-2484)cTt>cCt		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							136.0	128.0	131.0					15																	40280263		1886	4098	5984	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40280263T>C	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2483T>C	15.37:g.40280263T>C	ENSP00000263791:p.Leu828Pro					EIF2AK4_uc010bbj.1_Missense_Mutation_p.L529P	p.L828P	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	14	2533	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	828			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.2483T>C	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671396	0.88348	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.26957	1.7;1.7	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58323	-0.7656	10	0.87932	D	0	-15.7613	15.8221	0.78662	0.0:0.0:0.0:1.0	.	828	Q9P2K8	E2AK4_HUMAN	P	828;800	ENSP00000263791:L828P;ENSP00000372174:L800P	ENSP00000263791:L828P	L	+	2	0	EIF2AK4	38067555	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.680000	0.84062	2.226000	0.72624	0.482000	0.46254	CTT		0.393	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A	rs201800565		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:42193062G>A	ENST00000220325.4	-	6	1490	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	469	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592																																						uc001zot.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1405-1407)aaC>aaT		Homo sapiens EH-domain containing 4 (EHD4), mRNA.							91.0	74.0	80.0					15																	42193062		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193062G>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1407C>T	15.37:g.42193062G>A							p.N469N	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	5	1470	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	469			EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1407C>T	CCDS10081.1																																																																																				0.592	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
CYP19A1	1588	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTTTGTCCCCTTTTTCACTGG	0.413																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.4																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1168-1170)aAg>aGg		Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						190.0	173.0	179.0					15																	51504611		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51504611T>C	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1169A>G	15.37:g.51504611T>C	ENSP00000379683:p.Lys390Arg					CYP19A1_uc001zza.4_Missense_Mutation_p.K390R|CYP19A1_uc001zzb.2_Missense_Mutation_p.K390R	p.K390R	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	9	1420	-			390					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1169A>G	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922211	0.52653	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	2.13	0.27403	.	0.084915	0.85682	N	0.000000	T	0.69691	0.3139	L	0.58354	1.805	0.46279	D	0.998961	B	0.15141	0.012	B	0.27262	0.078	T	0.66152	-0.5995	10	0.52906	T	0.07	-23.6398	10.5475	0.45068	0.0:0.2114:0.0:0.7886	.	390	P11511	CP19A_HUMAN	R	390	ENSP00000379683:K390R;ENSP00000260433:K390R;ENSP00000379685:K390R	ENSP00000260433:K390R	K	-	2	0	CYP19A1	49291903	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.131000	0.50515	0.541000	0.28827	0.533000	0.62120	AAG		0.413	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		
CYP1A2	1544	broad.mit.edu	37	15	75045612	75045612	+	Splice_Site	SNP	G	G	A	rs56107638	byFrequency	TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:75045612G>A	ENST00000343932.4	+	6	1316		c.e6+1			NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2						alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	ACCATGACCCGTGAGTACATA	0.493																																						uc002ayr.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33	GRCh37	CS034693	CYP1A2	S	rs56107638	c.e6+1		Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	G		0,4394		0,0,2197	99.0	72.0	81.0			5.0	1.0	15	dbSNP_129	81	2,8590	2.2+/-6.3	0,2,4294	no	splice-5	CYP1A2	NM_000761.3		0,2,6491	AA,AG,GG		0.0233,0.0,0.0154			75045612	2,12984	2197	4296	6493	SO:0001630	splice_region_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75045612G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1253+1G>A	15.37:g.75045612G>A							p.P418_splice	NM_000761	NP_000752	P05177	CP1A2_HUMAN			6	1317	+			418					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Splice_Site	SNP	ENST00000343932.4	37	c.1253_splice	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618278	0.46736	0.0	2.33E-4	ENSG00000140505	ENST00000343932	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4789	0.90804	0.0:0.0:1.0:0.0	rs56107638;rs57702151	.	.	.	.	-1	.	.	.	+	.	.	CYP1A2	72832665	1.000000	0.71417	0.999000	0.59377	0.187000	0.23431	9.391000	0.97249	2.610000	0.88304	0.442000	0.29010	.		0.493	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	Intron
SV2B	9899	broad.mit.edu	37	15	91801746	91801746	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801746C>A	ENST00000394232.1	+	5	1350	c.880C>A	c.(880-882)Ctg>Atg	p.L294M	SV2B_ENST00000330276.4_Missense_Mutation_p.L294M|SV2B_ENST00000545111.2_Missense_Mutation_p.L143M	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	294					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CATGGTGGCCCTGAAGTTCAT	0.567																																						uc002bqv.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(880-882)Ctg>Atg		Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.							163.0	128.0	140.0					15																	91801746		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91801746C>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.880C>A	15.37:g.91801746C>A	ENSP00000377779:p.Leu294Met					SV2B_uc002bqt.3_Missense_Mutation_p.L294M|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.L143M	p.L294M	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		5	1771	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		294					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.880C>A	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767382	0.69878	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.61274	0.12;0.12;0.12	5.29	0.0118	0.14089	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.523759	0.20291	N	0.095240	T	0.66548	0.2800	M	0.63169	1.94	0.50813	D	0.999899	D	0.89917	1.0	D	0.85130	0.997	T	0.62826	-0.6772	10	0.62326	D	0.03	-13.1204	6.1407	0.20259	0.0:0.5899:0.1249:0.2852	.	294	Q7L1I2	SV2B_HUMAN	M	143;294;294	ENSP00000443243:L143M;ENSP00000377779:L294M;ENSP00000332818:L294M	ENSP00000332818:L294M	L	+	1	2	SV2B	89602750	0.977000	0.34250	0.977000	0.42913	0.974000	0.67602	2.485000	0.45250	-0.171000	0.10797	-0.126000	0.14955	CTG		0.567	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
SV2B	9899	broad.mit.edu	37	15	91801750	91801750	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801750A>G	ENST00000394232.1	+	5	1354	c.884A>G	c.(883-885)aAg>aGg	p.K295R	SV2B_ENST00000330276.4_Missense_Mutation_p.K295R|SV2B_ENST00000545111.2_Missense_Mutation_p.K144R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	295					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGGCCCTGAAGTTCATGCCA	0.567																																						uc002bqv.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(883-885)aAg>aGg		Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.							161.0	127.0	138.0					15																	91801750		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91801750A>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.884A>G	15.37:g.91801750A>G	ENSP00000377779:p.Lys295Arg					SV2B_uc002bqt.3_Missense_Mutation_p.K295R|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.K144R	p.K295R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		5	1775	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		295					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.884A>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.107928	0.37242	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.74209	-0.82;-0.82;-0.82	5.29	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.557738	0.19887	N	0.103840	T	0.58250	0.2109	N	0.25201	0.72	0.39642	D	0.970331	B	0.06786	0.001	B	0.10450	0.005	T	0.50684	-0.8799	10	0.24483	T	0.36	-10.5545	9.2631	0.37625	0.9067:0.0:0.0933:0.0	.	295	Q7L1I2	SV2B_HUMAN	R	144;295;295	ENSP00000443243:K144R;ENSP00000377779:K295R;ENSP00000332818:K295R	ENSP00000332818:K295R	K	+	2	0	SV2B	89602754	0.990000	0.36364	1.000000	0.80357	0.990000	0.78478	1.344000	0.33941	0.903000	0.36546	0.533000	0.62120	AAG		0.567	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
RNF40	9810	broad.mit.edu	37	16	30783282	30783282	+	Silent	SNP	C	C	A	rs549348940		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:30783282C>A	ENST00000324685.6	+	18	3150	c.2715C>A	c.(2713-2715)ctC>ctA	p.L905L	RNF40_ENST00000402121.3_Silent_p.L597L|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Silent_p.L805L|RNF40_ENST00000563683.1_Silent_p.L865L	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	905					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCTTCAACCTCAAGAGGGCTC	0.647																																						uc002dzq.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(2713-2715)ctC>ctA		Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.							32.0	31.0	32.0					16																	30783282		2196	4299	6495	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30783282C>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2715C>A	16.37:g.30783282C>A						RNF40_uc010caa.3_Silent_p.L905L|RNF40_uc010cab.3_Silent_p.L805L|RNF40_uc010vfa.2_Silent_p.L237L|RNF40_uc010vfb.2_Silent_p.L597L|RNF40_uc002dzr.3_Silent_p.L905L|RNF40_uc010vfc.1_Silent_p.L237L	p.L905L	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		17	3535	+			905					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.2715C>A	CCDS10691.1																																																																																				0.647	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
MMP15	4324	broad.mit.edu	37	16	58079116	58079116	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:58079116C>T	ENST00000219271.3	+	10	2561	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	592					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	GCGCAGAGGGCGACGTGGGGG	0.736																																						uc002ena.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1774-1776)ggC>ggT		Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.							25.0	31.0	29.0					16																	58079116		2183	4261	6444	SO:0001819	synonymous_variant	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58079116C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1776C>T	16.37:g.58079116C>T							p.G592G	NM_002428	NP_002419	P51511	MMP15_HUMAN			9	2749	+			592					A0A2U6|Q14111	Silent	SNP	ENST00000219271.3	37	c.1776C>T	CCDS10792.1																																																																																				0.736	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428	
ATP2C2	9914	broad.mit.edu	37	16	84449185	84449185	+	Silent	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:84449185C>A	ENST00000262429.4	+	7	701	c.612C>A	c.(610-612)atC>atA	p.I204I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.I204I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	204					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGCAGACATCCGACTCACTG	0.507																																						uc010chj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(610-612)atC>atA		Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.							85.0	83.0	83.0					16																	84449185		1951	4152	6103	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84449185C>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.612C>A	16.37:g.84449185C>A						ATP2C2_uc002fhx.3_Silent_p.I204I|ATP2C2_uc002fhy.3_Silent_p.I221I|ATP2C2_uc002fhz.3_Silent_p.I53I	p.I204I	NM_014861	NP_055676	O75185	AT2C2_HUMAN			6	701	+			204					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.612C>A	CCDS42207.1																																																																																				0.507	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861	
TRPV2	51393	broad.mit.edu	37	17	16323552	16323552	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:16323552G>A	ENST00000338560.7	+	3	723	c.324G>A	c.(322-324)tcG>tcA	p.S108S	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	108	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.S108S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCACCGACTCGGAATACACAG	0.582																																						uc002gpy.3																			1	Substitution - coding silent(1)	p.S108S(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(322-324)tcG>tcA		Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.							100.0	96.0	97.0					17																	16323552		2203	4300	6503	SO:0001819	synonymous_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16323552G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.324G>A	17.37:g.16323552G>A						TRPV2_uc002gpz.3_5'UTR	p.S108S	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	723	+			108			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	c.324G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	9.260	1.042910	0.19748	.	.	ENSG00000187688	ENST00000455666	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.45397	0.1340	.	.	.	0.54753	D	0.999983	.	.	.	.	.	.	T	0.56050	-0.8043	4	.	.	.	-26.6961	8.1609	0.31198	0.5664:0.0:0.1156:0.318	.	.	.	.	R	66	.	.	G	+	1	0	TRPV2	16264277	0.000000	0.05858	0.134000	0.22075	0.891000	0.51852	-3.994000	0.00318	-2.369000	0.00603	-1.105000	0.02106	GGA		0.582	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	
MAP2K3	5606	broad.mit.edu	37	17	21201792	21201792	+	Splice_Site	SNP	G	G	A	rs368105298		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:21201792G>A	ENST00000342679.4	+	2	365		c.e2+1		MAP2K3_ENST00000316920.6_Splice_Site|MAP2K3_ENST00000361818.5_Splice_Site	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577																																						uc002gys.3																			0											c.e2+1		Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.		G	,	1,4405		0,1,2202	202.0	174.0	183.0		,	5.7	1.0	17		183	0,8600		0,0,4300	no	splice-5,splice-5	MAP2K3	NM_002756.4,NM_145109.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,	21201792	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21201792G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.116+1G>A	17.37:g.21201792G>A						MAP2K3_uc002gyt.3_Splice_Site_p.T10_splice|MAP2K3_uc021tsq.1_Splice_Site_p.T10_splice|MAP2K3_uc021tsr.1_Splice_Site_p.T10_splice	p.T39_splice	NM_145109	NP_002747	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	2	381	+			39					B3KSK7|Q99441|Q9UE71|Q9UE72	Splice_Site	SNP	ENST00000342679.4	37	c.116_splice	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353219	0.82132	2.27E-4	0.0	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8621	0.86021	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K3	21142385	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.020000	0.49643	2.837000	0.97791	0.655000	0.94253	.		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	Intron
TMEM132E	124842	broad.mit.edu	37	17	32953325	32953325	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:32953325C>A	ENST00000321639.5	+	2	575	c.247C>A	c.(247-249)Cag>Aag	p.Q83K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	83						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGTGGTGTTCCAGACCAAGGA	0.697																																						uc002hif.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(247-249)Cag>Aag		Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.							27.0	24.0	25.0					17																	32953325		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32953325C>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.247C>A	17.37:g.32953325C>A	ENSP00000316532:p.Gln83Lys						p.Q83K	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	1	575	+			83					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.247C>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687273	0.48097	.	.	ENSG00000181291	ENST00000321639	T	0.08546	3.08	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	N	0.25957	0.775	0.37207	D	0.904637	B	0.32573	0.376	B	0.29598	0.104	T	0.08932	-1.0698	10	0.02654	T	1	-23.6545	17.0902	0.86620	0.0:1.0:0.0:0.0	.	83	Q6IEE7	T132E_HUMAN	K	83	ENSP00000316532:Q83K	ENSP00000316532:Q83K	Q	+	1	0	TMEM132E	29977438	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.652000	0.54439	2.255000	0.74692	0.549000	0.68633	CAG		0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
MAPT	4137	broad.mit.edu	37	17	44067273	44067273	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:44067273G>A	ENST00000571987.1	+	7	1212	c.1212G>A	c.(1210-1212)ttG>ttA	p.L404L	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.L404L|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000262410.5_Silent_p.L404L|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.L404L|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	404					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CTAAAACCTTGAAAAATAGGC	0.463																																						uc002ijr.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1210-1212)ttG>ttA		Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.							214.0	220.0	218.0					17																	44067273		2203	4300	6503	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44067273G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1212G>A	17.37:g.44067273G>A						MAPT_uc010dau.3_Silent_p.L404L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	p.L404L	NM_016835	NP_058519	P10636	TAU_HUMAN			7	1534	+		Melanoma(429;0.216)	404					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.1212G>A	CCDS11501.1																																																																																				0.463	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	
KIF2B	84643	broad.mit.edu	37	17	51901778	51901778	+	Missense_Mutation	SNP	C	C	T	rs370597263		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:51901778C>T	ENST00000268919.4	+	1	1540	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	462	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAAGGCCAGCCGGAAAAGGCA	0.488																																						uc002iua.2																			0		p.S461T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1384-1386)Cgg>Tgg		Homo sapiens kinesin family member 2B (KIF2B), mRNA.		C	TRP/ARG	0,4406		0,0,2203	47.0	44.0	45.0		1384	2.2	1.0	17		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF2B	NM_032559.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	462/674	51901778	1,13005	2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901778C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1384C>T	17.37:g.51901778C>T	ENSP00000268919:p.Arg462Trp					KIF2B_uc010wna.1_Non-coding_Transcript	p.R462W	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	1540	+			462			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1384C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036309	0.35893	0.0	1.16E-4	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.18174	2.23	5.73	2.23	0.28157	Kinesin, motor domain (4);	0.000000	0.40385	N	0.001117	T	0.51466	0.1676	H	0.94964	3.605	0.39140	D	0.962022	D	0.89917	1.0	D	0.79784	0.993	T	0.70135	-0.4955	10	0.87932	D	0	.	14.5528	0.68078	0.6006:0.3994:0.0:0.0	.	462	Q8N4N8	KIF2B_HUMAN	W	462;350	ENSP00000268919:R462W	ENSP00000268919:R462W	R	+	1	2	KIF2B	49256777	0.997000	0.39634	0.988000	0.46212	0.057000	0.15508	0.812000	0.27211	0.700000	0.31782	0.655000	0.94253	CGG		0.488	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
CLTC	1213	broad.mit.edu	37	17	57738898	57738898	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:57738898T>C	ENST00000269122.3	+	8	1536	c.1262T>C	c.(1261-1263)cTt>cCt	p.L421P	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L421P	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	421	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTGGTATCCTTTTGGACCAG	0.458			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixr.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(1273-1275)cTt>cCt		Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.							142.0	121.0	128.0					17																	57738898		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57738898T>C	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1262T>C	17.37:g.57738898T>C	ENSP00000269122:p.Leu421Pro					CLTC_uc002ixp.3_Missense_Mutation_p.L421P|CLTC_uc002ixq.1_Missense_Mutation_p.L421P	p.L425P	NM_004859	NP_004850	Q00610	CLH1_HUMAN			7	1717	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		421			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1274T>C	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699468	0.48307	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.54071	0.59;0.59	5.69	5.69	0.88448	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;0.999	D	0.86957	0.2089	10	0.87932	D	0	.	15.9504	0.79830	0.0:0.0:0.0:1.0	.	421;421	Q00610;Q00610-2	CLH1_HUMAN;.	P	421	ENSP00000269122:L421P;ENSP00000376763:L421P	ENSP00000269122:L421P	L	+	2	0	CLTC	55093680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.171000	0.68590	0.477000	0.44152	CTT		0.458	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
AANAT	15	broad.mit.edu	37	17	74465804	74465804	+	Missense_Mutation	SNP	G	G	A	rs72466447		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:74465804G>A	ENST00000392492.3	+	4	610	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	AANAT_ENST00000250615.3_Missense_Mutation_p.V171M	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	126	Acetyl-CoA binding. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						TGTGCTGGCCGTGCACCGCGC	0.692																																						uc021udg.1																			0				lung(1)	1						c.(511-513)Gtg>Atg		Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.							9.0	8.0	8.0					17																	74465804		2168	4236	6404	SO:0001583	missense	15				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity	g.chr17:74465804G>A	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"""serotonin N-acetyltransferase"""	600950	"""arylalkylamine N-acetyltransferase"""			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.376G>A	17.37:g.74465804G>A	ENSP00000376282:p.Val126Met					AANAT_uc002jro.3_Missense_Mutation_p.V126M|AANAT_uc010wte.2_Non-coding_Transcript	p.V171M	NM_001166579	NP_001079	Q16613	SNAT_HUMAN			6	1518	+			126			N-acetyltransferase.		A0AVF2|J3KMZ5|Q562F4	Missense_Mutation	SNP	ENST00000392492.3	37	c.511G>A	CCDS11745.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172790	0.78452	.	.	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.53423	0.62;0.62	5.13	5.13	0.70059	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88923	0.3367	10	0.87932	D	0	-10.2386	18.5824	0.91176	0.0:0.0:1.0:0.0	.	126	Q16613	SNAT_HUMAN	M	171;126	ENSP00000250615:V171M;ENSP00000376282:V126M	ENSP00000250615:V171M	V	+	1	0	AANAT	71977399	1.000000	0.71417	0.966000	0.40874	0.423000	0.31445	9.173000	0.94815	2.380000	0.81148	0.462000	0.41574	GTG		0.692	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	NM_001088	
RAC3	5881	broad.mit.edu	37	17	79991354	79991354	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:79991354C>T	ENST00000306897.4	+	5	465	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	109					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCACACGCCCATCCTCCTGG	0.672																																						uc002kdf.3																			0				NS(1)|kidney(1)|skin(1)	3						c.(325-327)ccC>ccT		Homo sapiens ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) (RAC3), mRNA.							52.0	48.0	49.0					17																	79991354		2202	4300	6502	SO:0001819	synonymous_variant	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79991354C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.327C>T	17.37:g.79991354C>T							p.P109P	NM_005052	NP_005043	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	433	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		109					O14658|Q5U0M8	Silent	SNP	ENST00000306897.4	37	c.327C>T	CCDS11798.1																																																																																				0.672	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1		
ADNP2	22850	broad.mit.edu	37	18	77893797	77893797	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr18:77893797C>G	ENST00000262198.4	+	4	956	c.501C>G	c.(499-501)taC>taG	p.Y167*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	167					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACACTTTGTACTACAGCATGA	0.373																																						uc002lnw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(499-501)taC>taG		Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.							76.0	76.0	76.0					18																	77893797		2203	4300	6503	SO:0001587	stop_gained	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77893797C>G	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.501C>G	18.37:g.77893797C>G	ENSP00000262198:p.Tyr167*						p.Y167*	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	3	956	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	167					A8K951|O94943|Q9H9P3	Nonsense_Mutation	SNP	ENST00000262198.4	37	c.501C>G	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294975	0.95574	.	.	ENSG00000101544	ENST00000262198	.	.	.	6.08	4.3	0.51218	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.5324	5.6614	0.17670	0.0:0.6507:0.0:0.3493	.	.	.	.	X	167	.	.	Y	+	3	2	ADNP2	75994788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.925000	0.28791	1.586000	0.49944	0.591000	0.81541	TAC		0.373	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
TJP3	27134	broad.mit.edu	37	19	3731941	3731941	+	Missense_Mutation	SNP	G	G	A	rs146857520		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:3731941G>A	ENST00000541714.2	+	6	1084	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	TJP3_ENST00000539908.2_Missense_Mutation_p.V172I|TJP3_ENST00000589378.1_Missense_Mutation_p.V217I|TJP3_ENST00000382008.3_Missense_Mutation_p.V208I|TJP3_ENST00000587686.1_Missense_Mutation_p.V227I|TJP3_ENST00000262968.9_Missense_Mutation_p.V227I	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	208	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGTTTGGCGTCAAGCTGGG	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16044	0.0		0.0	False		,,,				2504	0.0					uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(679-681)Gtc>Atc		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	45.0	41.0	43.0		679	4.4	0.5	19	dbSNP_134	43	0,8600		0,0,4300	yes	missense	TJP3	NM_014428.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	227/953	3731941	1,13005	2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3731941G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.622G>A	19.37:g.3731941G>A	ENSP00000439278:p.Val208Ile					TJP3_uc010xhs.2_Missense_Mutation_p.V208I|TJP3_uc010xht.2_Missense_Mutation_p.V172I|TJP3_uc010xhu.2_Missense_Mutation_p.V217I|TJP3_uc010xhw.2_Missense_Mutation_p.V227I	p.V227I	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	4	679	+			208			PDZ 2.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.679G>A	CCDS32873.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.85	2.359741	0.41801	2.27E-4	0.0	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.37	4.37	0.52481	PDZ/DHR/GLGF (4);	0.264796	0.29799	N	0.011174	T	0.18551	0.0445	N	0.10664	0.02	0.34334	D	0.68806	D;P;D;D	0.60160	0.965;0.943;0.987;0.965	P;P;P;P	0.52758	0.526;0.576;0.708;0.526	T	0.13926	-1.0491	10	0.38643	T	0.18	.	7.6503	0.28344	0.0:0.1924:0.636:0.1716	.	227;227;208;208	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	I	208;172;208;227	ENSP00000439278:V208I;ENSP00000439991:V172I;ENSP00000371438:V208I;ENSP00000262968:V227I	ENSP00000262968:V227I	V	+	1	0	TJP3	3682941	0.997000	0.39634	0.518000	0.27811	0.286000	0.27126	2.752000	0.47516	2.257000	0.74773	0.313000	0.20887	GTC		0.592	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1		
ZNF700	90592	broad.mit.edu	37	19	12059987	12059988	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:12059987_12059988delCT	ENST00000254321.5	+	4	1291_1292	c.1148_1149delCT	c.(1147-1149)actfs	p.T383fs	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Frame_Shift_Del_p.T365fs|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CATGAAAAAACTCACACTGGAG	0.371																																						uc010xme.2																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1201-1203)actfs		Homo sapiens zinc finger protein 700 (ZNF700), mRNA.																																				SO:0001589	frameshift_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059987_12059988delCT	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1148_1149delCT	19.37:g.12059987_12059988delCT	ENSP00000254321:p.Thr383fs					ZNF700_uc002msu.3_Frame_Shift_Del_p.T383fs|ZNF700_uc010xmf.2_Intron	p.T401fs			Q9H0M5	ZN700_HUMAN			4	1393_1394	+			383					B9EGU4	Frame_Shift_Del	DEL	ENST00000254321.5	37	c.1202_1203delCT	CCDS32915.1																																																																																				0.371	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
BABAM1	29086	broad.mit.edu	37	19	17384818	17384818	+	Silent	SNP	C	C	T	rs376718985		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:17384818C>T	ENST00000359435.4	+	4	643	c.450C>T	c.(448-450)aaC>aaT	p.N150N	BABAM1_ENST00000601043.1_Silent_p.N150N|BABAM1_ENST00000447614.2_Silent_p.N150N|BABAM1_ENST00000595632.1_Intron|CTD-2278I10.6_ENST00000596542.1_Silent_p.N72N|BABAM1_ENST00000598188.1_Silent_p.N150N|BABAM1_ENST00000448635.2_3'UTR	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	150	VWFA-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TGGTGGTGAACGATGACACGG	0.607																																						uc002nfu.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(448-450)aaC>aaT		Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.		C	,	0,4274		0,0,2137	70.0	82.0	78.0		450,450	-7.8	0.1	19		78	4,8476		0,4,4236	no	coding-synonymous,coding-synonymous	BABAM1	NM_001033549.1,NM_014173.2	,	0,4,6373	TT,TC,CC		0.0472,0.0,0.0314	,	150/330,150/330	17384818	4,12750	2137	4240	6377	SO:0001819	synonymous_variant	29086				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	g.chr19:17384818C>T	AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"""Mediator of Rap80 Interactions and Targeting 40 kD"", ""new component of the BRCA1 A complex"""	612766	"""chromosome 19 open reading frame 62"""	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.450C>T	19.37:g.17384818C>T						BABAM1_uc010xpl.1_Intron|BABAM1_uc002nfv.3_Silent_p.N150N|BABAM1_uc010ean.2_Non-coding_Transcript|BABAM1_uc002nfw.3_Silent_p.N150N	p.N150N	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN			3	568	+			150			VWFA-like.		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Silent	SNP	ENST00000359435.4	37	c.450C>T	CCDS46012.1																																																																																				0.607	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	NM_014173	
CILP2	148113	broad.mit.edu	37	19	19656132	19656132	+	Silent	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:19656132C>G	ENST00000291495.5	+	8	2863	c.2778C>G	c.(2776-2778)ctC>ctG	p.L926L	CILP2_ENST00000586018.1_Silent_p.L932L	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	926						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTGGCGATCTCCTGGCCTGGT	0.647																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2794-2796)ctC>ctG		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							32.0	23.0	26.0					19																	19656132		2202	4300	6502	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656132C>G	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2778C>G	19.37:g.19656132C>G						CILP2_uc002nmv.4_Silent_p.L926L	p.L932L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	2881	+			926					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2796C>G	CCDS12405.1																																																																																				0.647	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
CD22	933	broad.mit.edu	37	19	35837131	35837131	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:35837131G>A	ENST00000085219.5	+	13	2471	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	CD22_ENST00000594250.1_Missense_Mutation_p.R625H|CD22_ENST00000419549.2_Missense_Mutation_p.R630H|CD22_ENST00000536635.2_Missense_Mutation_p.R714H|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.R617H|CD22_ENST00000341773.6_Missense_Mutation_p.R625H	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	802					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCACAAGCGCCAAGTGGTA	0.597																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0		p.R802C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2404-2406)cGc>cAc		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						104.0	91.0	95.0					19																	35837131		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837131G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2405G>A	19.37:g.35837131G>A	ENSP00000085219:p.Arg802His					CD22_uc010edu.3_Missense_Mutation_p.R714H|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R625H|CD22_uc010xst.2_Missense_Mutation_p.R630H|CD22_uc010edx.3_Non-coding_Transcript	p.R802H	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		12	2489	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		802					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2405G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063052	0.55432	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.56611	0.91;0.51;0.45;0.68;0.99	3.78	-1.5	0.08691	.	1.389400	0.04925	N	0.455743	T	0.63022	0.2476	M	0.70595	2.14	0.09310	N	1	D;D;D;D	0.71674	0.966;0.998;0.99;0.996	B;P;B;P	0.59056	0.402;0.851;0.402;0.748	T	0.52968	-0.8504	10	0.62326	D	0.03	.	4.2584	0.10728	0.2265:0.3707:0.4028:0.0	.	630;714;802;625	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	H	802;714;625;617;630	ENSP00000085219:R802H;ENSP00000442279:R714H;ENSP00000339349:R625H;ENSP00000270311:R617H;ENSP00000403822:R630H	ENSP00000085219:R802H	R	+	2	0	CD22	40528971	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.523000	0.06230	0.052000	0.16007	0.313000	0.20887	CGC		0.597	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
ADCK4	79934	broad.mit.edu	37	19	41209757	41209757	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:41209757C>G	ENST00000324464.3	-	8	881	c.580G>C	c.(580-582)Gtt>Ctt	p.V194L	ADCK4_ENST00000450541.1_Missense_Mutation_p.V153L|ADCK4_ENST00000243583.6_Missense_Mutation_p.V153L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	194	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			tcttcaagaactctcTGCGGG	0.592																																						uc002oor.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(580-582)Gtt>Ctt		Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.							26.0	28.0	27.0					19																	41209757		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41209757C>G	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.580G>C	19.37:g.41209757C>G	ENSP00000315118:p.Val194Leu					ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Missense_Mutation_p.V153L	p.V194L	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		7	882	-			194			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.580G>C	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985593	0.74589	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.47177	0.85;0.85;0.85	5.4	5.4	0.78164	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.70275	2.135	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.14578	0.007;0.011	T	0.52193	-0.8608	10	0.66056	D	0.02	-7.2932	17.9605	0.89084	0.0:1.0:0.0:0.0	.	194;153	Q96D53;Q96D53-2	ADCK4_HUMAN;.	L	194;153;153	ENSP00000315118:V194L;ENSP00000412839:V153L;ENSP00000243583:V153L	ENSP00000243583:V153L	V	-	1	0	ADCK4	45901597	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.861000	0.56002	2.538000	0.85594	0.655000	0.94253	GTT		0.592	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	
LILRA3	11026	broad.mit.edu	37	19	54800078	54800078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:54800078G>A	ENST00000251390.3	-	7	1379	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	LILRA3_ENST00000391744.3_Nonsense_Mutation_p.Q366*|LILRA3_ENST00000391745.1_Nonsense_Mutation_p.Q447*	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	430					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTTGTTTTGTGGTGGGCTG	0.507																																						uc002qfd.3																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1288-1290)Caa>Taa		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.							125.0	100.0	109.0					19																	54800078		2203	4300	6503	SO:0001587	stop_gained	11026				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54800078G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1288C>T	19.37:g.54800078G>A	ENSP00000251390:p.Gln430*					LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Nonsense_Mutation_p.Q366*	p.Q430*	NM_006865	NP_006856	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1380	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		429					J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Nonsense_Mutation	SNP	ENST00000251390.3	37	c.1288C>T	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	g	19.13	3.768503	0.69878	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	.	.	.	1.33	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.22531	N	0.999016	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	2.0224	0.03512	0.2148:0.0:0.4745:0.3107	.	.	.	.	X	430;366;447	.	ENSP00000251390:Q430X	Q	-	1	0	LILRA3	59491890	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.008000	0.03663	-0.265000	0.09352	-0.320000	0.08662	CAA		0.507	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		
SPAST	6683	broad.mit.edu	37	2	32366971	32366971	+	Splice_Site	SNP	A	A	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:32366971A>T	ENST00000315285.3	+	13	1618		c.e13-1		SPAST_ENST00000345662.1_Splice_Site	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTTTTTTTTAGGCGTTTCAT	0.303																																						uc002roc.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CD023280|CS011849	SPAST	D|S		c.e13-2		Homo sapiens spastin (SPAST), transcript variant 1, mRNA.							111.0	104.0	106.0					2																	32366971		2203	4299	6502	SO:0001630	splice_region_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32366971A>T	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1494-1A>T	2.37:g.32366971A>T						SPAST_uc002rod.3_Splice_Site_p.R466_splice	p.R498_splice	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			13	1715	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		498			Sufficient for microtubule severing.			Splice_Site	SNP	ENST00000315285.3	37	c.1494_splice	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119328	0.77323	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.331	0.66556	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAST	32220475	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	7.284000	0.78650	1.857000	0.53885	0.482000	0.46254	.		0.303	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	Intron
POTEF	728378	broad.mit.edu	37	2	130878084	130878084	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:130878084A>C	ENST00000409914.2	-	3	404	c.5T>G	c.(4-6)gTg>gGg	p.V2G	POTEF_ENST00000357462.5_Missense_Mutation_p.V2G|POTEF_ENST00000361163.4_Missense_Mutation_p.V2G|POTEF_ENST00000360967.5_Missense_Mutation_p.V2G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	2					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AACCTCAACCACCATCTGCTT	0.532																																						uc010fmh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(4-6)gTg>gGg		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							30.0	30.0	30.0					2																	130878084		2141	4214	6355	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130878084A>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.5T>G	2.37:g.130878084A>C	ENSP00000386786:p.Val2Gly						p.V2G	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	405	-			2					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.5T>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.111	0.388647	0.11581	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	D;D;T;T	0.81579	-1.51;-1.51;1.11;1.06	.	.	.	.	.	.	.	.	T	0.63721	0.2535	N	0.17082	0.46	0.09310	N	1	P	0.44006	0.824	B	0.39706	0.307	T	0.56329	-0.7997	7	0.87932	D	0	.	.	.	.	.	2	A5A3E0	POTEF_HUMAN	G	2	ENSP00000350052:V2G;ENSP00000386786:V2G;ENSP00000354232:V2G;ENSP00000355012:V2G	ENSP00000350052:V2G	V	-	2	0	POTEF	130594554	0.003000	0.15002	0.043000	0.18650	0.043000	0.13939	-0.422000	0.07043	0.129000	0.18514	0.128000	0.15822	GTG		0.532	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
PRPF40A	55660	broad.mit.edu	37	2	153514467	153514467	+	Missense_Mutation	SNP	T	T	C	rs369227878		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:153514467T>C	ENST00000410080.1	-	25	3177	c.2636A>G	c.(2635-2637)gAc>gGc	p.D879G		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	906					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCTAGTTCTGTCTTTTTCACT	0.348																																						uc002tyh.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						c.(2635-2637)gAc>gGc		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.		T	GLY/ASP	0,3626		0,0,1813	215.0	173.0	186.0		2636	5.3	1.0	2		186	1,8125		0,1,4062	no	missense	PRPF40A	NM_017892.3	94	0,1,5875	CC,CT,TT		0.0123,0.0,0.0085	possibly-damaging	879/931	153514467	1,11751	1813	4063	5876	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153514467T>C	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2636A>G	2.37:g.153514467T>C	ENSP00000386458:p.Asp879Gly					PRPF40A_uc002tyg.4_Missense_Mutation_p.D335G|PRPF40A_uc010zcd.1_Missense_Mutation_p.D830G	p.D879G	NM_017892	NP_060362	O75400	PR40A_HUMAN			24	2658	-			906					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2636A>G	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.738870	0.69304	0.0	1.23E-4	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252	T	0.36340	1.26	5.27	5.27	0.74061	.	0.151201	0.64402	D	0.000014	T	0.32315	0.0825	L	0.53249	1.67	0.58432	D	0.999999	P;P	0.45044	0.849;0.849	B;B	0.37015	0.239;0.239	T	0.16188	-1.0411	10	0.45353	T	0.12	-9.0824	12.8708	0.57965	0.0:0.0:0.0:1.0	.	906;879	O75400;E9PFS0	PR40A_HUMAN;.	G	879;888;775	ENSP00000386458:D879G	ENSP00000348770:D888G	D	-	2	0	PRPF40A	153222713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.589000	0.67523	2.113000	0.64589	0.460000	0.39030	GAC		0.348	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	
CASP10	843	broad.mit.edu	37	2	202074219	202074219	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:202074219G>A	ENST00000272879.5	+	9	1533	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	CASP10_ENST00000313728.7_Missense_Mutation_p.R383Q|CASP10_ENST00000286186.6_Missense_Mutation_p.R450Q|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.R407Q|CASP10_ENST00000448480.1_Missense_Mutation_p.R407Q	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	450					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTATCCTTTCGGCATGTGGAG	0.488																																						uc002uxj.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1348-1350)cGg>cAg		Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.							103.0	100.0	101.0					2																	202074219		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202074219G>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1349G>A	2.37:g.202074219G>A	ENSP00000272879:p.Arg450Gln					CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.R383Q|CASP10_uc002uxk.1_Missense_Mutation_p.R407Q|CASP10_uc002uxl.2_Missense_Mutation_p.R450Q|CASP10_uc002uxm.2_Missense_Mutation_p.R407Q	p.R450Q	NM_032977	NP_116759	Q92851	CASPA_HUMAN			8	1767	+			450					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1349G>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917055	0.92249	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.05	5.05	0.67936	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	H	0.95712	3.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.999;1.0;1.0;1.0	T	0.75886	-0.3159	10	0.51188	T	0.08	.	18.4485	0.90695	0.0:0.0:1.0:0.0	.	383;407;450;407;450	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	Q	450;450;407;383;407	ENSP00000286186:R450Q;ENSP00000272879:R450Q;ENSP00000237865:R407Q;ENSP00000314599:R383Q;ENSP00000396835:R407Q	ENSP00000272879:R450Q	R	+	2	0	CASP10	201782464	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.961000	0.87903	2.361000	0.80049	0.650000	0.86243	CGG		0.488	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977	
TPX2	22974	broad.mit.edu	37	20	30347914	30347914	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:30347914T>C	ENST00000300403.6	+	4	689	c.161T>C	c.(160-162)cTt>cCt	p.L54P	TPX2_ENST00000340513.4_Missense_Mutation_p.L54P	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	54					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTGGAGGGCTTTTTCAGGGC	0.413																																						uc002wwp.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(160-162)cTt>cCt		Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.							131.0	134.0	133.0					20																	30347914		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30347914T>C	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.161T>C	20.37:g.30347914T>C	ENSP00000300403:p.Leu54Pro					TPX2_uc010gdv.1_Missense_Mutation_p.L54P	p.L54P	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		3	859	+			54					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.161T>C	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273050	0.23221	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.29142	1.58	4.81	-0.306	0.12780	Aurora-A binding (1);	0.628597	0.15475	N	0.260385	T	0.12561	0.0305	N	0.04508	-0.205	0.20764	N	0.999855	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.003	T	0.20874	-1.0262	10	0.44086	T	0.13	-1.7232	7.5894	0.28012	0.0:0.468:0.0:0.532	.	54;54	Q96RR5;Q9ULW0	.;TPX2_HUMAN	P	54	ENSP00000341145:L54P	ENSP00000300403:L54P	L	+	2	0	TPX2	29811575	0.998000	0.40836	0.463000	0.27130	0.836000	0.47400	0.121000	0.15667	0.048000	0.15891	-0.326000	0.08463	CTT		0.413	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
NFATC2	4773	broad.mit.edu	37	20	50139989	50139989	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:50139989G>A	ENST00000396009.3	-	2	1010	c.791C>T	c.(790-792)cCg>cTg	p.P264L	NFATC2_ENST00000609943.1_Missense_Mutation_p.P244L|NFATC2_ENST00000371564.3_Missense_Mutation_p.P264L|NFATC2_ENST00000609507.1_Missense_Mutation_p.P45L|NFATC2_ENST00000610033.1_Missense_Mutation_p.P45L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P244L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	264	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCTCCGGGCGGCAGGGCAAC	0.751																																						uc002xwd.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(790-792)cCg>cTg		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.							13.0	17.0	16.0					20																	50139989		2183	4224	6407	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139989G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.791C>T	20.37:g.50139989G>A	ENSP00000379330:p.Pro264Leu					NFATC2_uc002xwc.3_Missense_Mutation_p.P264L|NFATC2_uc010zyv.2_Missense_Mutation_p.P45L|NFATC2_uc010zyw.2_Missense_Mutation_p.P45L|NFATC2_uc002xwe.3_Missense_Mutation_p.P244L|NFATC2_uc010zyx.2_Missense_Mutation_p.P244L|NFATC2_uc010zyy.2_Missense_Mutation_p.P45L|NFATC2_uc010zyz.2_Missense_Mutation_p.P45L	p.P264L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			1	1011	-	Hepatocellular(150;0.248)		264			3 X approximate SP repeats.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.791C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117434	0.20877	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.73897	-0.79;-0.79;-0.79	5.43	1.74	0.24563	.	0.736359	0.12156	N	0.494381	T	0.47801	0.1465	N	0.12746	0.255	0.36887	D	0.889704	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38693	-0.9649	10	0.07482	T	0.82	-8.5649	3.9263	0.09265	0.5626:0.0:0.2374:0.2	.	244;244;264;264	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	264;264;45;244	ENSP00000360619:P264L;ENSP00000379330:P264L;ENSP00000396471:P244L	ENSP00000360619:P264L	P	-	2	0	NFATC2	49573396	1.000000	0.71417	0.989000	0.46669	0.826000	0.46750	0.801000	0.27055	0.356000	0.24157	-0.657000	0.03884	CCG		0.751	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
RPS21	6227	broad.mit.edu	37	20	60963374	60963374	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:60963374G>C	ENST00000343986.4	+	5	235	c.196G>C	c.(196-198)Gat>Cat	p.D66H	RPS21_ENST00000450116.2_Missense_Mutation_p.D66H|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	66					cellular protein metabolic process (GO:0044267)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGTGAGTCAGATGATTCCAT	0.507																																						uc002yct.3																			0				endometrium(2)|lung(1)|prostate(1)	4								Homo sapiens ribosomal protein S21 (RPS21), mRNA.							79.0	70.0	73.0					20																	60963374		2202	4299	6501	SO:0001583	missense	6227				endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome	g.chr20:60963374G>C	L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"""S ribosomal proteins"""	10409	protein-coding gene	gene with protein product	"""8.2 kDa differentiation factor"""	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.196G>C	20.37:g.60963374G>C	ENSP00000345957:p.Asp66His					RPS21_uc002ycr.3_Missense_Mutation_p.D66H|RPS21_uc002ycs.3_Missense_Mutation_p.D66H				P63220	RS21_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		3		+	Breast(26;2.05e-08)							P35265	Missense_Mutation	SNP	ENST00000343986.4	37		CCDS13497.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.02|17.02	3.281696|3.281696	0.59758|0.59758	.|.	.|.	ENSG00000171858|ENSG00000171858	ENST00000317311;ENST00000343986;ENST00000450116|ENST00000337102	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|3.088370	.|0.01432	.|N	.|0.014782	T|T	0.71837|0.71837	0.3387|0.3387	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.25007|.	0.116|.	B|.	0.35278|.	0.199|.	T|T	0.50816|0.50816	-0.8783|-0.8783	7|5	0.54805|.	T|.	0.06|.	0.4772|0.4772	16.0176|16.0176	0.80455|0.80455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	66|.	P63220|.	RS21_HUMAN|.	H|H	66|65	.|.	ENSP00000324438:D66H|.	D|Q	+|+	1|3	0|2	RPS21|RPS21	60396769|60396769	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.865000|0.865000	0.49528|0.49528	7.031000|7.031000	0.76491|0.76491	2.369000|2.369000	0.80426|0.80426	0.655000|0.655000	0.94253|0.94253	GAT|CAG		0.507	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080031.2	NM_001024	
TRIM71	131405	broad.mit.edu	37	3	32859711	32859711	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:32859711G>A	ENST00000383763.5	+	1	202	c.139G>A	c.(139-141)Ggg>Agg	p.G47R		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	47					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						gggcggcggcgggggccctgg	0.781																																						uc003cff.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(139-141)Ggg>Agg		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.							5.0	6.0	6.0					3																	32859711		1393	3267	4660	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32859711G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.139G>A	3.37:g.32859711G>A	ENSP00000373272:p.Gly47Arg						p.G47R	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			0	202	+			47						Missense_Mutation	SNP	ENST00000383763.5	37	c.139G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639590	0.29157	.	.	ENSG00000206557	ENST00000383763	D	0.83755	-1.76	4.06	3.17	0.36434	Zinc finger, RING-type (2);	1.125910	0.07004	U	0.823883	T	0.67031	0.2850	N	0.08118	0	0.34180	D	0.670782	B	0.24043	0.096	B	0.08055	0.003	T	0.63972	-0.6516	10	0.56958	D	0.05	.	6.451	0.21903	0.2312:0.0:0.7688:0.0	.	47	Q2Q1W2	LIN41_HUMAN	R	47	ENSP00000373272:G47R	ENSP00000373272:G47R	G	+	1	0	TRIM71	32834715	0.999000	0.42202	0.998000	0.56505	0.251000	0.25915	0.556000	0.23438	0.816000	0.34421	0.462000	0.41574	GGG		0.781	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	
C3orf67	200844	broad.mit.edu	37	3	58870322	58870322	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:58870322G>A	ENST00000482387.1	-	3	385	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.R17C|C3orf67_ENST00000295966.7_Missense_Mutation_p.R97C|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCAGTTTGGCGAAGTTTAGTC	0.408																																						uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(289-291)Cgc>Tgc		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							211.0	202.0	205.0					3																	58870322		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58870322G>A	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.289C>T	3.37:g.58870322G>A	ENSP00000417122:p.Arg97Cys					AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R5C	p.R97C	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	6	698	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	97					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.289C>T		.	.	.	.	.	.	.	.	.	.	G	20.5	3.995835	0.74703	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.51071	0.72;0.72;0.72	5.61	5.61	0.85477	.	0.410282	0.27906	N	0.017375	T	0.61311	0.2337	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.88	T	0.57412	-0.7816	9	.	.	.	-1.7255	16.5603	0.84551	0.0:0.0:1.0:0.0	.	17;97	C9J3M8;Q6ZVT6-2	.;.	C	97;97;17	ENSP00000295966:R97C;ENSP00000417122:R97C;ENSP00000417271:R17C	.	R	-	1	0	C3orf67	58845362	0.998000	0.40836	0.987000	0.45799	0.588000	0.36517	3.374000	0.52402	2.638000	0.89438	0.655000	0.94253	CGC		0.408	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
ROBO2	6092	broad.mit.edu	37	3	77629222	77629222	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:77629222C>A	ENST00000461745.1	+	16	3353	c.2453C>A	c.(2452-2454)aCc>aAc	p.T818N	ROBO2_ENST00000487694.3_Missense_Mutation_p.T834N|ROBO2_ENST00000332191.8_Missense_Mutation_p.T818N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	818	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCAGCTAGTACCAGTGCAGGG	0.453																																						uc011bgk.2																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2464-2466)aCc>aAc		Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.							109.0	110.0	109.0					3																	77629222		1920	4130	6050	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77629222C>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2453C>A	3.37:g.77629222C>A	ENSP00000417164:p.Thr818Asn					ROBO2_uc021xat.1_Missense_Mutation_p.T834N|ROBO2_uc003dpy.4_Missense_Mutation_p.T818N|ROBO2_uc003dpz.3_Missense_Mutation_p.T822N|ROBO2_uc011bgj.2_Non-coding_Transcript	p.T822N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	16	3108	+			818			Fibronectin type-III 3.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2465C>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711643	0.89112	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.47869	0.83;0.83;0.83	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41712	U	0.000837	T	0.59418	0.2192	L	0.28458	0.855	0.45227	D	0.998231	D;D;P	0.89917	1.0;0.999;0.926	D;D;P	0.77557	0.99;0.983;0.705	T	0.59621	-0.7420	9	0.49607	T	0.09	.	19.0503	0.93041	0.0:1.0:0.0:0.0	.	834;818;818	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	N	834;834;838;818;818;539	ENSP00000417335:T834N;ENSP00000417164:T818N;ENSP00000327536:T818N	ENSP00000327536:T818N	T	+	2	0	ROBO2	77711912	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.771000	0.85420	2.591000	0.87537	0.563000	0.77884	ACC		0.453	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
OR5K4	403278	broad.mit.edu	37	3	98073062	98073062	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:98073062G>A	ENST00000354924.2	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCCTATGACCGCTATGTGGCC	0.473																																						uc011bgv.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.							165.0	164.0	165.0					3																	98073062		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073062G>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.365G>A	3.37:g.98073062G>A	ENSP00000347003:p.Arg122His						p.R122H	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			0	365	+			122						Missense_Mutation	SNP	ENST00000354924.2	37	c.365G>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829249	0.71258	.	.	ENSG00000196098	ENST00000354924	T	0.77489	-1.1	4.77	0.947	0.19555	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33235	U	0.005131	D	0.85745	0.5768	M	0.89353	3.025	0.30848	N	0.73487	D	0.89917	1.0	D	0.67725	0.953	T	0.81581	-0.0867	10	0.66056	D	0.02	-15.4931	5.6427	0.17572	0.2507:0.1435:0.6058:0.0	.	122	A6NMS3	OR5K4_HUMAN	H	122	ENSP00000347003:R122H	ENSP00000347003:R122H	R	+	2	0	OR5K4	99555752	0.700000	0.27796	0.927000	0.36925	0.998000	0.95712	4.083000	0.57643	0.053000	0.16036	0.603000	0.83216	CGC		0.473	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
CCDC80	151887	broad.mit.edu	37	3	112356885	112356885	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:112356885C>T	ENST00000206423.3	-	2	2821	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.R623Q	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	623					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AAGGAGTCTTCGTTTGCCTTC	0.463																																						uc003dzf.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1867-1869)cGa>cAa		Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.							163.0	157.0	159.0					3																	112356885		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112356885C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1868G>A	3.37:g.112356885C>T	ENSP00000206423:p.Arg623Gln					CCDC80_uc011bhv.2_Missense_Mutation_p.R623Q|CCDC80_uc003dzg.3_Missense_Mutation_p.R623Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R623Q	p.R623Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			1	2086	-			623					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1868G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113526	0.77210	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.44482	0.92;0.92	6.03	6.03	0.97812	.	0.102891	0.64402	D	0.000005	T	0.65502	0.2697	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.948;0.969;0.969	T	0.64028	-0.6503	10	0.62326	D	0.03	-11.26	20.5596	0.99324	0.0:1.0:0.0:0.0	.	634;623;623	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	Q	623;623;251	ENSP00000206423:R623Q;ENSP00000411814:R623Q	ENSP00000206423:R623Q	R	-	2	0	CCDC80	113839575	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	7.053000	0.76641	2.868000	0.98415	0.555000	0.69702	CGA		0.463	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
PLXND1	23129	broad.mit.edu	37	3	129297231	129297231	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:129297231C>T	ENST00000324093.4	-	9	2465	c.2287G>A	c.(2287-2289)Gtg>Atg	p.V763M	PLXND1_ENST00000393239.1_Missense_Mutation_p.V763M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	763					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCGTAGGCACGGGTGCCAGG	0.632																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(2287-2289)Gtg>Atg		Homo sapiens plexin D1 (PLXND1), mRNA.							32.0	37.0	35.0					3																	129297231		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129297231C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2287G>A	3.37:g.129297231C>T	ENSP00000317128:p.Val763Met						p.V763M	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			8	2387	-			763					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.2287G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	8.303	0.820471	0.16678	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.39997	1.11;1.05	4.62	1.43	0.22495	.	0.796894	0.11646	N	0.543284	T	0.22322	0.0538	N	0.12746	0.255	0.23254	N	0.998035	B	0.14012	0.009	B	0.06405	0.002	T	0.22103	-1.0226	10	0.26408	T	0.33	.	7.4764	0.27378	0.0:0.7278:0.0:0.2722	.	763	Q9Y4D7	PLXD1_HUMAN	M	763	ENSP00000317128:V763M;ENSP00000376931:V763M	ENSP00000317128:V763M	V	-	1	0	PLXND1	130779921	0.023000	0.18921	0.276000	0.24689	0.424000	0.31475	0.067000	0.14510	-0.056000	0.13221	0.561000	0.74099	GTG		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
VPS8	23355	broad.mit.edu	37	3	184552450	184552450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:184552450delC	ENST00000437079.3	+	5	538	c.367delC	c.(367-369)cctfs	p.P123fs	VPS8_ENST00000424463.2_Frame_Shift_Del_p.P123fs|VPS8_ENST00000436792.2_Frame_Shift_Del_p.P123fs|VPS8_ENST00000287546.4_Frame_Shift_Del_p.P123fs|VPS8_ENST00000446204.2_Frame_Shift_Del_p.P123fs	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	123							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAAGAAATTACCTGATTCTTT	0.343																																						uc021xik.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(367-369)cctfs		Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.							68.0	57.0	60.0					3																	184552450		1800	4044	5844	SO:0001589	frameshift_variant	23355						zinc ion binding	g.chr3:184552450delC	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.367delC	3.37:g.184552450delC	ENSP00000397879:p.Pro123fs					VPS8_uc003fpb.1_Frame_Shift_Del_p.P123fs|VPS8_uc010hyd.1_Frame_Shift_Del_p.P123fs|VPS8_uc003fpc.1_Frame_Shift_Del_p.P123fs	p.P123fs	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		3	455	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		123					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Frame_Shift_Del	DEL	ENST00000437079.3	37	c.367delC	CCDS46971.1																																																																																				0.343	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
UGT2B27P	54569	broad.mit.edu	37	4	69874575	69874575	+	IGR	SNP	G	G	A	rs201185265		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:69874575G>A								UGT2A3 (57066 upstream) : UGT2B7 (42618 downstream)																							TTCTACTCACGAAGGATCATT	0.368																																						uc011cao.1																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.e7+1		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.		A		1,1383		0,1,691	124.0	94.0	103.0			-0.5	0.0	4		103	1,3177		0,1,1588	yes	intergenic				0,2,2279	AA,AG,GG		0.0315,0.0723,0.0438			69874575	2,4560	692	1589	2281	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69874575G>A																													4.37:g.69874575G>A						UGT2B10_uc011can.1_Splice_Site_p.S308_splice	p.S392_splice			P36537	UDB10_HUMAN			7	1301	-			436						Missense_Mutation	SNP		37	c.1175_splice																																																																																				0	0.368								
NDST4	64579	broad.mit.edu	37	4	115891587	115891587	+	Splice_Site	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:115891587A>G	ENST00000264363.2	-	4	1898	c.1220T>C	c.(1219-1221)cTg>cCg	p.L407P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	407	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGCTCACCAGTGCAAATTC	0.393																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.e4+1		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							107.0	97.0	101.0					4																	115891587		2203	4300	6503	SO:0001630	splice_region_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115891587A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1221+1T>C	4.37:g.115891587A>G						NDST4_uc010imw.3_Splice_Site	p.L407_splice	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	4	1900	-		Ovarian(17;0.156)	407			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1221_splice	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874683	0.51695	.	.	ENSG00000138653	ENST00000264363	T	0.38077	1.16	5.49	5.49	0.81192	.	0.068943	0.64402	D	0.000014	T	0.42471	0.1204	M	0.63428	1.95	0.80722	D	1	P	0.41366	0.747	P	0.46419	0.516	T	0.26360	-1.0105	10	0.33940	T	0.23	.	11.0235	0.47732	0.8611:0.0:0.0:0.1389	.	407	Q9H3R1	NDST4_HUMAN	P	407	ENSP00000264363:L407P	ENSP00000264363:L407P	L	-	2	0	NDST4	116111036	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.771000	0.68881	2.205000	0.71048	0.482000	0.46254	CTG		0.393	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	Missense_Mutation
MROH2B	133558	broad.mit.edu	37	5	41058293	41058293	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:41058293C>T	ENST00000399564.4	-	7	1078	c.628G>A	c.(628-630)Gtt>Att	p.V210I	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	210																	TGGGCCTTAACGATGCTCAAA	0.512																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(628-630)Gtt>Att		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							53.0	51.0	51.0					5																	41058293		1919	4131	6050	SO:0001583	missense	133558						binding	g.chr5:41058293C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.628G>A	5.37:g.41058293C>T	ENSP00000382476:p.Val210Ile					HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.V210I	p.V210I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			6	1118	-			210					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.628G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.479077	0.00165	.	.	ENSG00000171495	ENST00000399564	T	0.04502	3.61	5.03	-4.19	0.03835	Armadillo-type fold (1);	1.014600	0.07909	N	0.973924	T	0.01523	0.0049	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49934	-0.8886	10	0.07990	T	0.79	.	12.6433	0.56721	0.0:0.3518:0.0:0.6482	.	210	Q7Z745	HTRB2_HUMAN	I	210	ENSP00000382476:V210I	ENSP00000382476:V210I	V	-	1	0	HEATR7B2	41094050	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-1.823000	0.01710	-1.064000	0.03172	-1.884000	0.00543	GTT		0.512	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
PIK3R1	5295	broad.mit.edu	37	5	67589634	67589635	+	In_Frame_Ins	INS	-	-	ATATGAAGA			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:67589634_67589635insATATGAAGA	ENST00000521381.1	+	11	2013_2014	c.1397_1398insATATGAAGA	c.(1396-1401)ttatat>ttATATGAAGAatat	p.470_471insEEY	PIK3R1_ENST00000521657.1_In_Frame_Ins_p.470_471insEEY|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.107_108insEEY|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.170_171insEEY|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.470_471insEEY|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.200_201insEEY|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.470_471insEEY	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	470					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y463_L466del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TATGATAGATTATATGAAGAAT	0.287			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.D434_Q475del(2)|p.Y463_L466del(1)|p.Y467_E468insGEYDRLYE(1)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1396-1398)tta>ttATATGAAGAa		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001652	inframe_insertion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589634_67589635insATATGAAGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1398_1406dupATATGAAGA	5.37:g.67589635_67589643dupATATGAAGA	ENSP00000428056:p.Glu468_Tyr470dup	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Ins_p.169_170insYEE|PIK3R1_uc003jvd.3_In_Frame_Ins_p.199_200insYEE|PIK3R1_uc003jve.3_In_Frame_Ins_p.148_149insYEE|PIK3R1_uc021xzn.1_In_Frame_Ins_p.106_107insYEE|PIK3R1_uc011crb.2_In_Frame_Ins_p.139_140insYEE	p.469_470insYEE	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1977_1978	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	469					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	ENST00000521381.1	37	c.1397_1398insATATGAAGA	CCDS3993.1																																																																																				0.287	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PKHD1	5314	broad.mit.edu	37	6	51491840	51491840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51491840G>A	ENST00000371117.3	-	66	12015	c.11740C>T	c.(11740-11742)Cga>Tga	p.R3914*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3914					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGATTCTCGGCGTTTGGAT	0.438																																						uc003pah.1																			0		p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11740-11742)Cga>Tga		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							286.0	273.0	277.0					6																	51491840		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51491840G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11740C>T	6.37:g.51491840G>A	ENSP00000360158:p.Arg3914*						p.R3914*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	12016	-	Lung NSC(77;0.0605)		3914					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.11740C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	52	20.029402	0.99926	.	.	ENSG00000170927	ENST00000371117	.	.	.	5.0	2.01	0.26516	.	0.715664	0.11956	N	0.513223	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4241	0.27088	0.0:0.1596:0.4874:0.353	.	.	.	.	X	3914	.	ENSP00000360158:R3914X	R	-	1	2	PKHD1	51599799	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.126000	0.31344	0.297000	0.22615	-0.182000	0.12963	CGA		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51918008	51918008	+	Missense_Mutation	SNP	C	C	T	rs200497761		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51918008C>T	ENST00000371117.3	-	21	2281	c.2006G>A	c.(2005-2007)cGt>cAt	p.R669H	PKHD1_ENST00000340994.4_Missense_Mutation_p.R669H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	669					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCGAAGCAACGCACACAAGT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19054	0.001		0.0	False		,,,				2504	0.0					uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2005-2007)cGt>cAt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	67.0	66.0	66.0		2006,2006	-2.8	0.0	6		66	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	669/4075,669/3397	51918008	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918008C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2006G>A	6.37:g.51918008C>T	ENSP00000360158:p.Arg669His					PKHD1_uc003pai.3_Missense_Mutation_p.R669H	p.R669H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			20	2282	-	Lung NSC(77;0.0605)		669					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2006G>A	CCDS4935.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.89	1.477036	0.26511	0.0	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.02;-2.22	5.63	-2.82	0.05787	.	1.078920	0.07004	N	0.823948	T	0.48150	0.1484	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.0	T	0.37842	-0.9688	10	0.25106	T	0.35	.	8.5168	0.33250	0.1115:0.2467:0.0:0.6417	.	669;669	P08F94-2;P08F94	.;PKHD1_HUMAN	H	669	ENSP00000360158:R669H;ENSP00000341097:R669H	ENSP00000341097:R669H	R	-	2	0	PKHD1	52025967	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.435000	0.02423	-0.509000	0.06532	0.655000	0.94253	CGT		0.582	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51941107	51941107	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51941107C>T	ENST00000371117.3	-	6	690	c.415G>A	c.(415-417)Gtt>Att	p.V139I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V139I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	139	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V139I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTTGGTGAACGATGGGTGTC	0.393																																						uc003pah.1																			1	Substitution - Missense(1)	p.V139I(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(415-417)Gtt>Att		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							105.0	108.0	107.0					6																	51941107		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51941107C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.415G>A	6.37:g.51941107C>T	ENSP00000360158:p.Val139Ile					PKHD1_uc003pai.3_Missense_Mutation_p.V139I	p.V139I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			5	691	-	Lung NSC(77;0.0605)		139			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.415G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040648	0.08196	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83992	-1.61;-1.79	5.74	2.81	0.32909	.	0.422418	0.22311	N	0.061737	T	0.43831	0.1265	N	0.16307	0.4	0.21325	N	0.999724	B;B	0.18310	0.027;0.016	B;B	0.13407	0.009;0.004	T	0.33394	-0.9870	10	0.20046	T	0.44	.	5.0439	0.14473	0.1696:0.648:0.0:0.1823	.	139;139	P08F94-2;P08F94	.;PKHD1_HUMAN	I	139	ENSP00000360158:V139I;ENSP00000341097:V139I	ENSP00000341097:V139I	V	-	1	0	PKHD1	52049066	1.000000	0.71417	0.811000	0.32455	0.470000	0.32858	1.570000	0.36439	0.356000	0.24157	0.650000	0.86243	GTT		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
VGLL2	245806	broad.mit.edu	37	6	117589651	117589651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:117589651C>T	ENST00000326274.5	+	2	578	c.388C>T	c.(388-390)Cga>Tga	p.R130*	VGLL2_ENST00000352536.3_Nonsense_Mutation_p.R130*	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	130					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TGGGCCCTGGCGAGGTGAGTA	0.567																																						uc003pxn.3																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(388-390)Cga>Tga		Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.							18.0	17.0	18.0					6																	117589651		2198	4299	6497	SO:0001587	stop_gained	245806				transcription, DNA-dependent	nucleus		g.chr6:117589651C>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.388C>T	6.37:g.117589651C>T	ENSP00000320957:p.Arg130*					VGLL2_uc003pxo.3_Nonsense_Mutation_p.R130*	p.R130*	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	594	+			130					Q8WWX1	Nonsense_Mutation	SNP	ENST00000326274.5	37	c.388C>T	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817006	0.90790	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	.	.	.	5.43	-7.18	0.01505	.	0.253060	0.31784	N	0.007061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1232	22.1793	0.99968	0.7736:0.2264:0.0:0.0	.	.	.	.	X	130	.	ENSP00000320957:R130X	R	+	1	2	VGLL2	117696344	0.965000	0.33210	0.910000	0.35882	0.682000	0.39822	0.043000	0.13971	-1.034000	0.03295	-0.181000	0.13052	CGA		0.567	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453	
IGF2R	3482	broad.mit.edu	37	6	160506085	160506085	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:160506085G>A	ENST00000356956.1	+	41	6275	c.6127G>A	c.(6127-6129)Gcc>Acc	p.A2043T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2043					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTCTGAAAGGGCCAGCATTTG	0.517																																						uc003qta.3																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(6127-6129)Gcc>Acc		Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.							55.0	51.0	53.0					6																	160506085		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160506085G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6127G>A	6.37:g.160506085G>A	ENSP00000349437:p.Ala2043Thr						p.A2043T	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	40	6275	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2043					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6127G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766991	0.69878	.	.	ENSG00000197081	ENST00000356956	T	0.33438	1.41	5.91	5.91	0.95273	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	M	0.80616	2.505	0.80722	D	1	D	0.60160	0.987	P	0.58721	0.844	T	0.39800	-0.9596	10	0.49607	T	0.09	-17.4743	12.5706	0.56334	0.0749:0.0:0.9251:0.0	.	2043	P11717	MPRI_HUMAN	T	2043	ENSP00000349437:A2043T	ENSP00000349437:A2043T	A	+	1	0	IGF2R	160426075	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	6.986000	0.76200	2.793000	0.96121	0.655000	0.94253	GCC		0.517	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
ZPBP	11055	broad.mit.edu	37	7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A	rs200427468		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:50097612G>A	ENST00000046087.2	-	4	529	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_ENST00000419417.1_Missense_Mutation_p.R153C|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	154					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		18844	0.0		0.0	False		,,,				2504	0.001					uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(460-462)Cgt>Tgt		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77.0	78.0	78.0		457,460	4.5	0.6	7		78	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	ZPBP	NM_001159878.1,NM_007009.2	180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	153/351,154/352	50097612	1,13003	2203	4299	6502	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097612G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.460C>T	7.37:g.50097612G>A	ENSP00000046087:p.Arg154Cys					ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	p.R154C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	530	-	Glioma(55;0.08)|all_neural(89;0.245)		154					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.460C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202157	0.38905	0.0	1.16E-4	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.56444	0.46;0.46	5.66	4.51	0.55191	Immunoglobulin-like (1);	0.542661	0.18129	N	0.150789	T	0.46308	0.1386	N	0.22421	0.69	0.40301	D	0.978604	D;D	0.65815	0.995;0.995	P;P	0.51229	0.663;0.663	T	0.30880	-0.9963	9	.	.	.	-8.2369	10.6887	0.45858	0.0:0.0:0.169:0.831	.	153;154	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	C	154;153	ENSP00000046087:R154C;ENSP00000402071:R153C	.	R	-	1	0	ZPBP	50068158	0.993000	0.37304	0.619000	0.29118	0.297000	0.27493	2.770000	0.47662	0.971000	0.38288	-0.467000	0.05162	CGT		0.294	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009	
NRCAM	4897	broad.mit.edu	37	7	107880546	107880546	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:107880546C>A	ENST00000379028.3	-	0	433				NRCAM_ENST00000425651.2_5'Flank|NRCAM_ENST00000413765.2_De_novo_Start_InFrame|NRCAM_ENST00000379024.4_De_novo_Start_InFrame|NRCAM_ENST00000379022.4_De_novo_Start_InFrame|NRCAM_ENST00000351718.4_De_novo_Start_InFrame			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACTGAATTTCCTTTTCTTCTT	0.383																																						uc022aka.1																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65								Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.							56.0	56.0	56.0					7																	107880546		2203	4300	6503			4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107880546C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973		7.37:g.107880546C>A						NRCAM_uc011kmk.2_5'UTR|NRCAM_uc003vfd.3_5'UTR|NRCAM_uc003vfe.3_5'UTR|NRCAM_uc003vfc.3_5'UTR		NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			0		-								A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Translation_Start_Site	SNP	ENST00000379028.3	37		CCDS47686.1																																																																																				0.383	NRCAM-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001037132	
GRM8	2918	broad.mit.edu	37	7	126173900	126173900	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:126173900C>T	ENST00000339582.2	-	9	2344	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	GRM8_ENST00000358373.3_Silent_p.P512P|GRM8_ENST00000444921.2_Silent_p.P512P|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	512					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGACAGACGCCGGGTGAGTAT	0.488										HNSCC(24;0.065)																												uc003vlr.2																			0		p.H511P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1534-1536)ccG>ccA		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						56.0	59.0	58.0					7																	126173900		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173900C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1536G>A	7.37:g.126173900C>T		HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.P512P|GRM8_uc010lkz.1_Non-coding_Transcript	p.P512P	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	1847	-		Prostate(267;0.186)	512					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1536G>A	CCDS5794.1																																																																																				0.488	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
CNTNAP2	26047	broad.mit.edu	37	7	147183114	147183114	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:147183114T>G	ENST00000361727.3	+	11	2274	c.1758T>G	c.(1756-1758)agT>agG	p.S586R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	586	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.S586R(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGGATACAGTGGGGCCACCT	0.468										HNSCC(39;0.1)																												uc003weu.2																			1	Substitution - Missense(1)	p.S586R(2)	urinary_tract(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1756-1758)agT>agG		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							106.0	97.0	100.0					7																	147183114		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147183114T>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1758T>G	7.37:g.147183114T>G	ENSP00000354778:p.Ser586Arg	HNSCC(39;0.1)				MIR548I4_uc022aoo.1_Intron	p.S586R	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2274	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	586			EGF-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1758T>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391690	0.42410	.	.	ENSG00000174469	ENST00000361727	D	0.93488	-3.23	5.89	-2.21	0.06973	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.228496	0.35495	N	0.003176	D	0.87912	0.6297	L	0.52011	1.625	0.80722	D	1	P	0.34864	0.473	B	0.41135	0.348	T	0.75693	-0.3229	10	0.16896	T	0.51	.	3.7588	0.08596	0.1095:0.441:0.1104:0.3392	.	586	Q9UHC6	CNTP2_HUMAN	R	586	ENSP00000354778:S586R	ENSP00000354778:S586R	S	+	3	2	CNTNAP2	146814047	0.060000	0.20803	0.985000	0.45067	0.964000	0.63967	-0.689000	0.05144	-0.263000	0.09378	-0.899000	0.02877	AGT		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
SPTAN1	6709	broad.mit.edu	37	9	131381157	131381157	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:131381157C>T	ENST00000372731.4	+	43	5703	c.5593C>T	c.(5593-5595)Cgg>Tgg	p.R1865W	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R1870W|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R1870W	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1865					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TAGGGGTCAGCGGCTGGAAGA	0.438																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.4																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(5593-5595)Cgg>Tgg		Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.							88.0	88.0	88.0					9																	131381157		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131381157C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5593C>T	9.37:g.131381157C>T	ENSP00000361816:p.Arg1865Trp					SPTAN1_uc004bvm.4_Missense_Mutation_p.R1870W|SPTAN1_uc004bvn.4_Missense_Mutation_p.R1845W	p.R1865W	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			42	5735	+			1865					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5593C>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479992	0.84747	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.46063	0.88;0.88;0.88	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.967;0.988;0.993	T	0.65651	-0.6116	10	0.87932	D	0	.	15.0444	0.71816	0.142:0.858:0.0:0.0	.	1845;1870;1865	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	W	1870;1865;1870;1845;114	ENSP00000350882:R1870W;ENSP00000361816:R1865W;ENSP00000361824:R1870W	ENSP00000350882:R1870W	R	+	1	2	SPTAN1	130420978	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.721000	0.61951	2.788000	0.95919	0.650000	0.86243	CGG		0.438	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
CACNA1B	774	broad.mit.edu	37	9	140777224	140777224	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:140777224T>C	ENST00000371372.1	+	3	564	c.419T>C	c.(418-420)aTc>aCc	p.I140T	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.I140T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.I140T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.I140T|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.I140T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	140					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCATCGGGATCTTTTGCTTC	0.572																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(418-420)aTc>aCc		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						150.0	158.0	156.0					9																	140777224		2072	4201	6273	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140777224T>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.419T>C	9.37:g.140777224T>C	ENSP00000360423:p.Ile140Thr					AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.I140T	p.I140T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	2	564	+	all_cancers(76;0.166)		140					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.419T>C	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438725	0.43326	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	H	0.96889	3.9	0.80722	D	1	P	0.50819	0.939	P	0.53988	0.739	D	0.98914	1.0781	10	0.87932	D	0	.	14.2005	0.65699	0.0:0.0:0.0:1.0	.	140	B1AQK6	.	T	140	ENSP00000360423:I140T;ENSP00000277551:I140T;ENSP00000360414:I140T;ENSP00000360408:I140T;ENSP00000360406:I140T	ENSP00000277551:I140T	I	+	2	0	CACNA1B	139897045	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	7.858000	0.86971	1.757000	0.51966	0.383000	0.25322	ATC		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
