#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATP8A1	10396	broad.mit.edu	37	4	42576684	42576684	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:42576684C>T	ENST00000381668.5	-	14	1478	c.1247G>A	c.(1246-1248)tGc>tAc	p.C416Y	ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	416					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATTACATTGCATGTCAGAGT	0.308																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1246-1248)tGc>tAc		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						59.0	60.0	60.0					4																	42576684		2203	4299	6502	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42576684C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1247G>A	4.37:g.42576684C>T	ENSP00000371084:p.Cys416Tyr					ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y	p.C416Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			14	1478	-			416					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1247G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372695	0.82573	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.74421	-0.84;-0.84	5.53	5.53	0.82687	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90414	0.6999	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	0.98;1.0;0.997	D;D;D	0.81914	0.962;0.995;0.961	D	0.92048	0.5646	10	0.54805	T	0.06	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	416;416;416	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	Y	416	ENSP00000371084:C416Y;ENSP00000264449:C416Y	ENSP00000264449:C416Y	C	-	2	0	ATP8A1	42271441	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.752000	0.85141	2.596000	0.87737	0.591000	0.81541	TGC		0.308	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		16	81	0	0	0	1	0	16	81				
KCNIP2	30819	broad.mit.edu	37	10	103588846	103588846	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:103588846G>A	ENST00000356640.2	-	4	609	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	KCNIP2_ENST00000370046.1_Missense_Mutation_p.R62W|KCNIP2_ENST00000461105.1_Missense_Mutation_p.R127W|KCNIP2_ENST00000343195.4_Missense_Mutation_p.R62W|KCNIP2_ENST00000348850.5_Missense_Mutation_p.R67W|KCNIP2_ENST00000353068.3_Missense_Mutation_p.R62W|KCNIP2_ENST00000358038.3_Missense_Mutation_p.R94W|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	112	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TTGAAGCCCCGGTACAGGACC	0.582																																						ENST00000358038.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(280-282)Cgg>Tgg		Kv channel interacting protein 2							96.0	78.0	84.0					10																	103588846		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103588846G>A		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.334C>T	10.37:g.103588846G>A	ENSP00000349055:p.Arg112Trp					KCNIP2_ENST00000348850.5_Missense_Mutation_p.R67W|KCNIP2_ENST00000356640.2_Missense_Mutation_p.R112W|KCNIP2_ENST00000370046.1_Missense_Mutation_p.R62W|KCNIP2_ENST00000343195.4_Missense_Mutation_p.R62W|KCNIP2_ENST00000353068.3_Missense_Mutation_p.R62W|KCNIP2_ENST00000461105.1_Missense_Mutation_p.R127W|KCNIP2_ENST00000355657.2_5'UTR	p.R94W	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	3	631	-		Colorectal(252;0.122)	112			EF-hand 1; degenerate.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.280C>T	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120062	0.77323	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117	T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.1	-1.52	0.08637	EF-hand-like domain (1);	0.062772	0.64402	D	0.000020	T	0.59115	0.2170	M	0.93594	3.435	0.48632	D	0.999682	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.994;0.991;0.984;0.991;0.999;0.985;0.995;1.0;0.998	D;D;P;P;P;D;P;P;D;D	0.70487	0.969;0.932;0.796;0.63;0.796;0.969;0.891;0.796;0.957;0.929	T	0.68405	-0.5417	10	0.87932	D	0	.	11.9268	0.52825	0.0:0.0919:0.4558:0.4522	.	62;67;62;62;62;94;62;127;112;67	Q9NS61-9;B4DW99;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;Q3YAC6	.;.;.;.;.;.;.;.;KCIP2_HUMAN;.	W	67;94;94;112;62;62;127;62;62	ENSP00000239118:R67W;ENSP00000350733:R94W;ENSP00000349055:R112W;ENSP00000359063:R62W;ENSP00000341624:R62W;ENSP00000420040:R127W;ENSP00000344169:R62W;ENSP00000239117:R62W	ENSP00000239117:R62W	R	-	1	2	KCNIP2	103578836	0.961000	0.32948	0.985000	0.45067	0.992000	0.81027	-0.008000	0.12788	-0.122000	0.11766	0.561000	0.74099	CGG		0.582	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			9	17	0	0	0	1	0	9	17				
IL4R	3566	broad.mit.edu	37	16	27367221	27367221	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:27367221A>C	ENST00000395762.2	+	8	1022	c.763A>C	c.(763-765)Atc>Ctc	p.I255L	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.I255L|IL4R_ENST00000543915.2_Missense_Mutation_p.I255L|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	255					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTATGTCAGCATCACCAAGTG	0.612																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(763-765)Atc>Ctc		interleukin 4 receptor							114.0	91.0	99.0					16																	27367221		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27367221A>C	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.763A>C	16.37:g.27367221A>C	ENSP00000379111:p.Ile255Leu					IL4R_ENST00000543915.2_Missense_Mutation_p.I255L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L|IL4R_ENST00000170630.2_Missense_Mutation_p.I255L	p.I255L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			8	1022	+			255					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.763A>C	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	7.505	0.653421	0.14580	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09723	2.95;2.95;2.98;2.95	4.31	-2.58	0.06228	.	1.876460	0.02091	N	0.053155	T	0.08133	0.0203	L	0.41415	1.275	0.09310	N	1	P;B;B	0.43431	0.807;0.307;0.307	B;B;B	0.39217	0.294;0.051;0.051	T	0.32402	-0.9908	10	0.10902	T	0.67	-9.8063	4.9135	0.13835	0.3163:0.0:0.501:0.1827	.	240;255;255	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	L	255;255;240;255	ENSP00000379111:I255L;ENSP00000441667:I255L;ENSP00000370309:I240L;ENSP00000170630:I255L	ENSP00000170630:I255L	I	+	1	0	IL4R	27274722	0.000000	0.05858	0.063000	0.19743	0.062000	0.15995	-0.943000	0.03917	-0.373000	0.07979	-0.563000	0.04171	ATC		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			6	42	0	0	0	1	0	6	42				
SRGAP3	9901	broad.mit.edu	37	3	9055452	9055452	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:9055452C>T	ENST00000383836.3	-	16	2315	c.1888G>A	c.(1888-1890)Gtc>Atc	p.V630I	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I|SRGAP3_ENST00000433332.3_5'Flank	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	630	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TATCTCATGACCACAATGACC	0.557			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1888-1890)Gtc>Atc		SLIT-ROBO Rho GTPase activating protein 3							149.0	137.0	141.0					3																	9055452		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055452C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1888G>A	3.37:g.9055452C>T	ENSP00000373347:p.Val630Ile					SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I	p.V630I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	16	2315	-			630			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1888G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613670	0.87359	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.19394	2.15;2.15	5.26	5.26	0.73747	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.40543	1.245	0.80722	D	1	P;P	0.37276	0.589;0.484	P;P	0.53185	0.598;0.72	T	0.02244	-1.1189	10	0.33141	T	0.24	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	606;630	O43295-2;O43295	.;SRGP2_HUMAN	I	630;606	ENSP00000373347:V630I;ENSP00000353587:V606I	ENSP00000353587:V606I	V	-	1	0	SRGAP3	9030452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.465000	0.83290	0.655000	0.94253	GTC		0.557	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			8	42	0	0	0	1	0	8	42				
USP35	57558	broad.mit.edu	37	11	77917055	77917055	+	Silent	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:77917055C>T	ENST00000529308.1	+	7	1626	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000441408.2_Missense_Mutation_p.S40F|USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	455	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCAACAGCATCCTTCAGGCCT	0.547																																						ENST00000441408.2																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(118-120)tCc>tTc		ubiquitin specific peptidase 35							268.0	271.0	270.0					11																	77917055		2054	4195	6249	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77917055C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1365C>T	11.37:g.77917055C>T						USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000529308.1_Silent_p.I455I|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000530535.1_Intron	p.S40F			Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	684	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		0						Missense_Mutation	SNP	ENST00000529308.1	37	c.119C>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600990	0.28534	.	.	ENSG00000118369	ENST00000441408	T	0.13307	2.6	4.64	2.66	0.31614	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.26111	N	0.980686	B	0.28552	0.215	B	0.35607	0.206	T	0.24799	-1.0150	8	0.87932	D	0	-20.1251	11.4555	0.50179	0.0:0.7847:0.1368:0.0784	.	40	E7EWV7	.	F	40	ENSP00000400825:S40F	ENSP00000400825:S40F	S	+	2	0	USP35	77594703	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.549000	0.45803	1.163000	0.42636	0.591000	0.81541	TCC		0.547	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		5	298	0	0	0	1	0	5	298				
SYT14	255928	broad.mit.edu	37	1	210334143	210334143	+	Missense_Mutation	SNP	G	G	A	rs186906124	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:210334143G>A	ENST00000472886.1	+	8	1438	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SYT14_ENST00000367015.1_Missense_Mutation_p.R437H|SYT14_ENST00000422431.1_Missense_Mutation_p.R539H|SYT14_ENST00000537238.1_Missense_Mutation_p.R437H|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.R494H|SYT14_ENST00000534859.1_Missense_Mutation_p.R501H|SYT14_ENST00000399639.2_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	475	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ACATCCATCCGCAGAGGGCAG	0.378													G|||	6	0.00119808	0.0	0.0014	5008	,	,		17469	0.0		0.001	False		,,,				2504	0.0041					ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(1309-1311)cGc>cAc		synaptotagmin XIV							111.0	115.0	114.0					1																	210334143		2203	4299	6502	SO:0001583	missense	255928					integral to membrane		g.chr1:210334143G>A	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1424G>A	1.37:g.210334143G>A	ENSP00000418901:p.Arg475His					SYT14_ENST00000534859.1_Missense_Mutation_p.R501H|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.R437H|SYT14_ENST00000367019.1_Missense_Mutation_p.R494H|SYT14_ENST00000472886.1_Missense_Mutation_p.R475H|SYT14_ENST00000422431.1_Missense_Mutation_p.R539H|SYT14_ENST00000271745.7_3'UTR	p.R437H	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	9	1701	+			475			C2 2.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1310G>A	CCDS31014.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	18.66	3.671538	0.67814	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.84	4.93	0.64822	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.128347	0.64402	D	0.000019	T	0.71400	0.3335	L	0.56280	1.765	0.53688	D	0.999975	D;P;D;D	0.64830	0.991;0.948;0.994;0.994	P;P;P;P	0.57204	0.802;0.625;0.809;0.815	T	0.77846	-0.2436	10	0.72032	D	0.01	-6.4563	14.9161	0.70798	0.0688:0.0:0.9312:0.0	.	522;475;494;539	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	H	539;501;437;494;475;437	ENSP00000389039:R539H;ENSP00000442891:R501H;ENSP00000437423:R437H;ENSP00000355986:R494H;ENSP00000418901:R475H;ENSP00000355982:R437H	ENSP00000355982:R437H	R	+	2	0	SYT14	208400766	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.394000	0.97261	1.472000	0.48140	-0.237000	0.12165	CGC		0.378	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		13	65	0	0	0	1	0	13	65				
OR10C1	442194	broad.mit.edu	37	6	29408448	29408448	+	Missense_Mutation	SNP	G	G	A	rs74711365		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:29408448G>A	ENST00000444197.2	+	1	1366	c.656G>A	c.(655-657)cGt>cAt	p.R219H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18522	0.0		0.001	False		,,,				2504	0.0					ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(655-657)cGt>cAt		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							201.0	215.0	210.0					6																	29408448		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408448G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.656G>A	6.37:g.29408448G>A	ENSP00000419119:p.Arg219His					OR11A1_ENST00000377149.1_Intron	p.R219H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1366	+			219					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.656G>A	CCDS34364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.237	-0.374776	0.05034	.	.	ENSG00000206474	ENST00000444197	T	0.00107	8.72	3.49	-0.39	0.12450	GPCR, rhodopsin-like superfamily (1);	1.341410	0.05509	N	0.559845	T	0.00039	0.0001	L	0.28458	0.855	0.09310	N	1	B	0.16802	0.019	B	0.20955	0.032	T	0.05767	-1.0865	10	0.33141	T	0.24	.	3.7393	0.08523	0.5714:0.0:0.2392:0.1894	.	219	Q96KK4	O10C1_HUMAN	H	219	ENSP00000419119:R219H	ENSP00000419119:R219H	R	+	2	0	OR10C1	29516427	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.281000	0.01157	-0.067000	0.12976	-0.199000	0.12753	CGT		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			12	183	0	0	0	1	0	12	183				
ZNF750	79755	broad.mit.edu	37	17	80790121	80790121	+	Silent	SNP	T	T	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:80790121T>G	ENST00000269394.3	-	2	1043	c.210A>C	c.(208-210)tcA>tcC	p.S70S	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	70					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGGGTCTAGTGAGTTAGATT	0.473																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(208-210)tcA>tcC		zinc finger protein 750							141.0	117.0	125.0					17																	80790121		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80790121T>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.210A>C	17.37:g.80790121T>G						TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	p.S70S	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1043	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	70					Q9H899	Silent	SNP	ENST00000269394.3	37	c.210A>C	CCDS11819.1																																																																																				0.473	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		21	86	0	0	0	1	0	21	86				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658359	72658359	+	RNA	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr7:72658359G>A	ENST00000425256.1	-	0	1552									GTF2I repeat domain containing 2 pseudogene 1																		ttctcaacacgcgaaaagatc	0.498																																						ENST00000425256.1																			0																																																			0							g.chr7:72658359G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658359G>A								NR_002164.1						0	1552	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.498	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	31	0	0	0	1	0	8	31				
IGSF22	283284	broad.mit.edu	37	11	18738274	18738274	+	Splice_Site	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:18738274C>T	ENST00000513874.1	-	10	1386		c.e10+1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22											NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAACCACTCACGGTCAACAGT	0.517																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.e10+1		immunoglobulin superfamily, member 22							88.0	86.0	87.0					11																	18738274		1955	4146	6101	SO:0001630	splice_region_variant	283284							g.chr11:18738274C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1246+1G>A	11.37:g.18738274C>T						RP11-1081L13.4_ENST00000527285.1_RNA		NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			10	1386	-								A6NNA0|D6RGV7	Splice_Site	SNP	ENST00000513874.1	37		CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553672	0.45487	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.77	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0909	0.30801	0.0:0.7192:0.0:0.2808	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF22	18694850	1.000000	0.71417	0.961000	0.40146	0.681000	0.39784	1.355000	0.34068	0.367000	0.24454	0.655000	0.94253	.		0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	Intron	16	44	0	0	0	1	0	16	44				
IGKV2-30	28919	broad.mit.edu	37	2	89544386	89544386	+	RNA	SNP	C	C	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:89544386C>G	ENST00000468494.1	-	0	267									immunoglobulin kappa variable 2-30																		ACCCCAGAGTCCCGGTTAGAA	0.498																																						ENST00000468494.1																			0																				126.0	123.0	124.0					2																	89544386		1830	4083	5913			0							g.chr2:89544386C>G	X63403		2p11.2	2012-02-08			ENSG00000243238	ENSG00000243238		"""Immunoglobulins / IGK locus"""	5785	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151692		2.37:g.89544386C>G														0	267	-									RNA	SNP	ENST00000468494.1	37																																																																																						0.498	IGKV2-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323491.1	NG_000834		41	156	0	0	0	1	0	41	156				
PDE6C	5146	broad.mit.edu	37	10	95399905	95399905	+	Silent	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:95399905T>C	ENST00000371447.3	+	12	1699	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	521					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGAGCACGGATTGATTAAATG	0.413																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1561-1563)Ttg>Ctg		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							124.0	116.0	119.0					10																	95399905		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95399905T>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1561T>C	10.37:g.95399905T>C							p.L521L	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			12	1699	+		Colorectal(252;0.123)	521					A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.1561T>C	CCDS7429.1																																																																																				0.413	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		17	47	0	0	0	1	0	17	47				
NAA15	80155	broad.mit.edu	37	4	140297585	140297585	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:140297585A>G	ENST00000296543.5	+	16	2337	c.2014A>G	c.(2014-2016)Ata>Gta	p.I672V	NAA15_ENST00000398947.1_Missense_Mutation_p.I672V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	672	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAGAACAAGATAGAGACTCA	0.333																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2014-2016)Ata>Gta		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							113.0	107.0	109.0					4																	140297585		1831	4086	5917	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140297585A>G	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2014A>G	4.37:g.140297585A>G	ENSP00000296543:p.Ile672Val					NAA15_ENST00000398947.1_Missense_Mutation_p.I672V	p.I672V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			16	2337	+			672					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.2014A>G	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497662	0.64186	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.44083	0.93;0.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.60957	1.885	0.80722	D	1	B	0.17465	0.022	B	0.26969	0.075	T	0.26950	-1.0088	10	0.22706	T	0.39	-19.0649	15.8229	0.78673	1.0:0.0:0.0:0.0	.	672	Q9BXJ9	NAA15_HUMAN	V	672;546;672	ENSP00000296543:I672V;ENSP00000381920:I672V	ENSP00000296543:I672V	I	+	1	0	NAA15	140517035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.119000	0.77145	2.130000	0.65690	0.477000	0.44152	ATA		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		12	45	0	0	0	1	0	12	45				
FAM151A	338094	broad.mit.edu	37	1	55075174	55075174	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:55075174A>G	ENST00000302250.2	-	8	1685	c.1525T>C	c.(1525-1527)Tcc>Ccc	p.S509P	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCTGGAAGGACACAGGTTGC	0.632																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1525-1527)Tcc>Ccc		family with sequence similarity 151, member A							73.0	73.0	73.0					1																	55075174		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55075174A>G	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1525T>C	1.37:g.55075174A>G	ENSP00000306888:p.Ser509Pro					ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P	p.S509P	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			8	1685	-			509					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.1525T>C	CCDS594.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883010	0.72410	.	.	ENSG00000162391	ENST00000302250;ENST00000294370	T	0.11712	2.75	4.17	4.17	0.49024	.	0.000000	0.64402	D	0.000002	T	0.29882	0.0747	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.01639	-1.1306	10	0.34782	T	0.22	-37.4534	11.8376	0.52336	1.0:0.0:0.0:0.0	.	509	Q8WW52	F151A_HUMAN	P	509;322	ENSP00000306888:S509P	ENSP00000294370:S322P	S	-	1	0	FAM151A	54847762	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.721000	0.68477	2.108000	0.64289	0.533000	0.62120	TCC		0.632	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		21	103	0	0	0	1	0	21	103				
ST3GAL1	6482	broad.mit.edu	37	8	134472109	134472109	+	Silent	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr8:134472109C>T	ENST00000319914.5	-	9	1948	c.921G>A	c.(919-921)gcG>gcA	p.A307A	ST3GAL1_ENST00000521180.1_Silent_p.A307A|ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	307					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAAAAGCCCCCGCGGATGGGT	0.552																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(919-921)gcG>gcA		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							153.0	152.0	152.0					8																	134472109		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472109C>T	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.921G>A	8.37:g.134472109C>T						ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A|ST3GAL1_ENST00000521180.1_Silent_p.A307A	p.A307A			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		9	1948	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		307					O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.921G>A	CCDS6373.1																																																																																				0.552	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		4	167	0	0	0	1	0	4	167				
FAM209A	200232	broad.mit.edu	37	20	55100069	55100069	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr20:55100069C>T	ENST00000371328.3	+	1	528	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	69						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TGTTGTTGTGCCGTTTGTGAT	0.463																																						ENST00000371328.3																			0											c.(205-207)Ccg>Tcg		family with sequence similarity 209, member A							156.0	142.0	147.0					20																	55100069		2203	4300	6503	SO:0001583	missense	200232							g.chr20:55100069C>T	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.205C>T	20.37:g.55100069C>T	ENSP00000360379:p.Pro69Ser					GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	p.P69S	NM_001012971.3	NP_001012989.2					1	528	+								Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	c.205C>T	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652024	0.29336	.	.	ENSG00000124103	ENST00000371328	T	0.07688	3.17	5.51	2.34	0.29019	.	0.446120	0.16586	N	0.207989	T	0.05640	0.0148	N	0.22421	0.69	0.09310	N	1	B	0.18863	0.031	B	0.22601	0.04	T	0.36016	-0.9765	10	0.72032	D	0.01	-4.7215	4.1778	0.10360	0.1866:0.6066:0.0:0.2068	.	69	Q5JX71	CT106_HUMAN	S	69	ENSP00000360379:P69S	ENSP00000360379:P69S	P	+	1	0	C20orf106	54533476	0.179000	0.23135	0.059000	0.19551	0.005000	0.04900	0.138000	0.16016	0.206000	0.20587	-0.373000	0.07131	CCG		0.463	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			15	68	0	0	0	1	0	15	68				
ARHGEF17	9828	broad.mit.edu	37	11	73022674	73022674	+	Silent	SNP	G	G	A	rs377593513		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:73022674G>A	ENST00000263674.3	+	1	3341	c.2991G>A	c.(2989-2991)acG>acA	p.T997T	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	997	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCATCCCACGTTGCAGGCAC	0.602																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(2989-2991)acG>acA		Rho guanine nucleotide exchange factor (GEF) 17							68.0	63.0	65.0					11																	73022674		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73022674G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2991G>A	11.37:g.73022674G>A							p.T997T	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	3341	+			997			Pro-rich.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.2991G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	3.366	-0.129361	0.06753	.	.	ENSG00000110237	ENST00000544519	.	.	.	4.49	-8.98	0.00754	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	0.5623	8.804	0.34927	0.0924:0.3396:0.4915:0.0765	.	.	.	.	H	22	.	.	R	+	2	0	ARHGEF17	72700322	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	-3.391000	0.00487	-2.782000	0.00360	-0.793000	0.03317	CGT		0.602	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		8	30	0	0	0	1	0	8	30				
ATP1A2	477	broad.mit.edu	37	1	160093053	160093053	+	Silent	SNP	C	C	T	rs201540165	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:160093053C>T	ENST00000361216.3	+	4	317	c.228C>T	c.(226-228)aaC>aaT	p.N76N	ATP1A2_ENST00000392233.3_Silent_p.N76N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	76					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGGGCCCAACGCCCTCACAC	0.637													c|||	2	0.000399361	0.0	0.0	5008	,	,		18802	0.001		0.001	False		,,,				2504	0.0					ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(226-228)aaC>aaT		ATPase, Na+/K+ transporting, alpha 2 polypeptide							130.0	127.0	128.0					1																	160093053		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093053C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.228C>T	1.37:g.160093053C>T						ATP1A2_ENST00000392233.3_Silent_p.N76N|ATP1A2_ENST00000472488.1_3'UTR	p.N76N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	317	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		76					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.228C>T	CCDS1196.1																																																																																				0.637	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		29	106	0	0	0	1	0	29	106				
EXOSC6	118460	broad.mit.edu	37	16	70285043	70285043	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:70285043A>T	ENST00000435634.1	-	1	790	c.761T>A	c.(760-762)gTg>gAg	p.V254E		NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6	254					DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CTGCTGCAGCACGGGGTAGAG	0.751																																						ENST00000435634.1																			0											c.(760-762)gTg>gAg		exosome component 6							4.0	5.0	5.0					16																	70285043		1604	3420	5024	SO:0001583	missense	118460				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	RNA binding	g.chr16:70285043A>T	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578	ENST00000435634.1:c.761T>A	16.37:g.70285043A>T	ENSP00000398597:p.Val254Glu						p.V254E	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN			1	790	-			254						Missense_Mutation	SNP	ENST00000435634.1	37	c.761T>A	CCDS10887.1	.	.	.	.	.	.	.	.	.	.	a	10.21	1.288623	0.23478	.	.	ENSG00000223496	ENST00000435634	D	0.84370	-1.84	3.95	2.81	0.32909	Exoribonuclease, phosphorolytic domain 2 (1);	0.085276	0.46145	U	0.000316	T	0.76828	0.4042	M	0.64997	1.995	0.09310	N	1	P	0.39759	0.687	B	0.31614	0.133	T	0.71024	-0.4712	10	0.51188	T	0.08	-29.8103	5.5319	0.16989	0.7779:0.0:0.2221:0.0	.	254	Q5RKV6	EXOS6_HUMAN	E	254	ENSP00000398597:V254E	ENSP00000398597:V254E	V	-	2	0	EXOSC6	68842544	0.589000	0.26807	0.013000	0.15412	0.167000	0.22549	2.940000	0.49003	1.671000	0.50874	0.374000	0.22700	GTG		0.751	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		4	6	0	0	0	1	0	4	6				
TACR3	6870	broad.mit.edu	37	4	104640398	104640398	+	Silent	SNP	G	G	A	rs199586035		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:104640398G>A	ENST00000304883.2	-	1	575	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	145					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TATGAAGCGCGTAGATGAAAT	0.537																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(433-435)taC>taT		tachykinin receptor 3							108.0	98.0	102.0					4																	104640398		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640398G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.435C>T	4.37:g.104640398G>A							p.Y145Y	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	575	-		Hepatocellular(203;0.217)	145					Q0P510	Silent	SNP	ENST00000304883.2	37	c.435C>T	CCDS3664.1																																																																																				0.537	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		7	31	0	0	0	1	0	7	31				
RANBP9	10048	broad.mit.edu	37	6	13625976	13625976	+	Silent	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:13625976T>C	ENST00000011619.3	-	13	2026	c.1968A>G	c.(1966-1968)gcA>gcG	p.A656A	RANBP9_ENST00000469916.1_5'UTR|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000539980.1_Silent_p.A427A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	656	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GATCTGAATATGCTAGTAGAC	0.388																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1966-1968)gcA>gcG		RAN binding protein 9							166.0	163.0	164.0					6																	13625976		2203	4300	6503	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13625976T>C	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1968A>G	6.37:g.13625976T>C						NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Silent_p.A427A	p.A656A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		13	2026	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	656			Interaction with FMR1.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.1968A>G	CCDS4529.1																																																																																				0.388	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			26	68	0	0	0	1	0	26	68				
EPB41L3	23136	broad.mit.edu	37	18	5398057	5398057	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr18:5398057A>G	ENST00000341928.2	-	17	2775	c.2435T>C	c.(2434-2436)aTa>aCa	p.I812T	EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	812	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACCCCTCCTATGAATTCTGT	0.443																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2434-2436)aTa>aCa		erythrocyte membrane protein band 4.1-like 3							210.0	212.0	211.0					18																	5398057		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398057A>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2435T>C	18.37:g.5398057A>G	ENSP00000343158:p.Ile812Thr					EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T	p.I812T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2775	-			812			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2435T>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.445045	0.25987	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	D;D;T;T;D	0.83075	-1.5;-1.68;-0.5;-0.53;-1.5	6.17	6.17	0.99709	.	0.311579	0.37348	N	0.002130	D	0.85362	0.5679	M	0.68317	2.08	0.52099	D	0.999945	P;B;P;B;P	0.50272	0.933;0.418;0.853;0.075;0.565	P;B;P;B;B	0.50231	0.544;0.202;0.635;0.055;0.114	T	0.82418	-0.0467	10	0.13853	T	0.58	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	643;109;117;204;812	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	T	812;643;109;117;812	ENSP00000343158:I812T;ENSP00000441174:I643T;ENSP00000392195:I109T;ENSP00000442233:I117T;ENSP00000341138:I812T	ENSP00000343158:I812T	I	-	2	0	EPB41L3	5388057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.683000	0.74533	2.371000	0.80710	0.533000	0.62120	ATA		0.443	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		38	163	0	0	0	1	0	38	163				
CCT4	10575	broad.mit.edu	37	2	62099698	62099698	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:62099698T>C	ENST00000394440.3	-	11	1447	c.1151A>G	c.(1150-1152)aAa>aGa	p.K384R	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|CCT4_ENST00000544079.1_Missense_Mutation_p.K354R|CCT4_ENST00000461540.2_Intron	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	384					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TGTAACTGTTTTTCCAGGGCT	0.448																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1150-1152)aAa>aGa		chaperonin containing TCP1, subunit 4 (delta)							67.0	65.0	65.0					2																	62099698		2203	4300	6503	SO:0001583	missense	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099698T>C		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1151A>G	2.37:g.62099698T>C	ENSP00000377958:p.Lys384Arg					CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.K354R	p.K384R	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		11	1447	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		384					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	c.1151A>G	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896191	0.33442	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.87	4.72	0.59763	.	0.041023	0.85682	D	0.000000	T	0.69726	0.3143	L	0.28694	0.88	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.005	T	0.62632	-0.6813	10	0.27785	T	0.31	-15.3401	11.8293	0.52285	0.0:0.0689:0.0:0.9311	.	354;384	F5H5W3;P50991	.;TCPD_HUMAN	R	384;354;234;328	ENSP00000377958:K384R;ENSP00000443061:K354R;ENSP00000443451:K234R;ENSP00000442174:K328R	ENSP00000377958:K384R	K	-	2	0	CCT4	61953202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.993000	0.63895	1.158000	0.42547	0.533000	0.62120	AAA		0.448	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			14	42	0	0	0	1	0	14	42				
COL5A2	1290	broad.mit.edu	37	2	189909928	189909928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:189909928G>A	ENST00000374866.3	-	47	3614	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1114					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCCCAGCTCGACCAGGTGGT	0.303																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3340-3342)Cga>Tga		collagen, type V, alpha 2							29.0	32.0	31.0					2																	189909928		2202	4299	6501	SO:0001587	stop_gained	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189909928G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3340C>T	2.37:g.189909928G>A	ENSP00000364000:p.Arg1114*						p.R1114*	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		47	3614	-			1114					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	c.3340C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	43	10.194554	0.99357	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.74	1.65	0.23941	.	0.000000	0.42682	D	0.000667	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	13.5107	0.61511	0.0:0.0:0.4589:0.5411	.	.	.	.	X	1114;754	.	ENSP00000364000:R1114X	R	-	1	2	COL5A2	189618173	0.862000	0.29867	1.000000	0.80357	0.998000	0.95712	1.145000	0.31577	0.331000	0.23511	0.655000	0.94253	CGA		0.303	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		7	28	0	0	0	1	0	7	28				
SLC9A5	6553	broad.mit.edu	37	16	67290816	67290816	+	Missense_Mutation	SNP	G	G	A	rs567278884		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:67290816G>A	ENST00000299798.11	+	7	1200	c.1135G>A	c.(1135-1137)Gta>Ata	p.V379I		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	379					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGCTGTAGGCGTAGTCCTGCA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20532	0.0		0.0	False		,,,				2504	0.0					ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1135-1137)Gta>Ata		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							55.0	60.0	58.0					16																	67290816		2089	4215	6304	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290816G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1135G>A	16.37:g.67290816G>A	ENSP00000299798:p.Val379Ile						p.V379I	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1200	+		Ovarian(137;0.0563)	379					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1135G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494566	0.85069	.	.	ENSG00000135740	ENST00000299798	T	0.19938	2.11	5.63	5.63	0.86233	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.14448	-1.0472	10	0.87932	D	0	.	19.032	0.92961	0.0:0.0:1.0:0.0	.	379	Q14940	SL9A5_HUMAN	I	379	ENSP00000299798:V379I	ENSP00000299798:V379I	V	+	1	0	SLC9A5	65848317	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.813000	0.99286	2.814000	0.96858	0.655000	0.94253	GTA		0.622	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			16	46	0	0	0	1	0	16	46				
SIPA1L1	26037	broad.mit.edu	37	14	72137985	72137985	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr14:72137985G>A	ENST00000555818.1	+	8	2753	c.2405G>A	c.(2404-2406)cGg>cAg	p.R802Q	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R277Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R802Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R802Q	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	802	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGAAGTTTCGGGCCATGGCA	0.478																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(2404-2406)cGg>cAg		signal-induced proliferation-associated 1 like 1							95.0	95.0	95.0					14																	72137985		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72137985G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2405G>A	14.37:g.72137985G>A	ENSP00000450832:p.Arg802Gln					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R802Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R802Q|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R277Q	p.R802Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	2753	+			802			Rap-GAP.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2405G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639706	0.87760	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.05	6.05	0.98169	Rap/ran-GAP (2);	0.111699	0.64402	D	0.000007	T	0.53029	0.1771	N	0.25890	0.77	0.45330	D	0.998325	D;B;D;D;D	0.71674	0.991;0.124;0.996;0.998;0.995	P;B;P;P;P	0.61658	0.856;0.02;0.871;0.892;0.784	T	0.49113	-0.8973	10	0.44086	T	0.13	-21.8731	15.3331	0.74229	0.0:0.0:0.8603:0.1397	.	277;802;277;802;802	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Q	802;802;802;277	ENSP00000370630:R802Q;ENSP00000450832:R802Q;ENSP00000351352:R802Q;ENSP00000440682:R277Q	ENSP00000351352:R802Q	R	+	2	0	SIPA1L1	71207738	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.838000	0.86804	2.878000	0.98634	0.650000	0.86243	CGG		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		12	45	0	0	0	1	0	12	45				
ANKRD20A11P	391267	broad.mit.edu	37	21	15326416	15326416	+	RNA	SNP	C	C	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr21:15326416C>A	ENST00000344693.5	-	0	791					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TATTCTGTTTCCTTTTCCATG	0.398																																						ENST00000344693.5																			0																																																			0							g.chr21:15326416C>A			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15326416C>A								NR_027270.1						0	791	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.398	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			15	75	1	0	6.33239e-15	1	6.44965e-15	15	75				
WNK1	65125	broad.mit.edu	37	12	994555	994555	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr12:994555C>G	ENST00000315939.6	+	19	5228	c.4585C>G	c.(4585-4587)Cta>Gta	p.L1529V	WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000537687.1_Missense_Mutation_p.L1789V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1529					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CGCACACTCACTAGATAAGAC	0.468																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5365-5367)Cta>Gta		WNK lysine deficient protein kinase 1							406.0	364.0	378.0					12																	994555		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994555C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4585C>G	12.37:g.994555C>G	ENSP00000313059:p.Leu1529Val					WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000315939.6_Missense_Mutation_p.L1529V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V	p.L1789V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6008	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1529					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5365C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	7.946	0.743734	0.15642	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.3	2.45	0.29901	.	0.454838	0.19188	N	0.120484	T	0.51092	0.1654	L	0.47716	1.5	0.09310	N	1	P;P;P	0.41848	0.763;0.649;0.666	B;B;B	0.39660	0.306;0.23;0.115	T	0.37337	-0.9710	10	0.35671	T	0.21	-11.6328	8.1467	0.31115	0.0:0.6791:0.1157:0.2052	.	1282;1282;1529	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1282;1529;1789;702;2027;1122	ENSP00000441972:L1282V;ENSP00000313059:L1529V;ENSP00000444465:L1789V;ENSP00000433548:L2027V;ENSP00000341292:L1122V	ENSP00000252477:L702V	L	+	1	2	WNK1	864816	0.002000	0.14202	0.980000	0.43619	0.689000	0.40095	0.797000	0.26999	0.731000	0.32448	-0.140000	0.14226	CTA		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		64	166	0	0	0	1	0	64	166				
PCDHA1	56147	broad.mit.edu	37	5	140168038	140168038	+	Silent	SNP	G	G	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr5:140168038G>T	ENST00000504120.2	+	1	2163	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.L721L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	721					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCGCTGCGGTGCTCAG	0.657																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(2161-2163)ctG>ctT									53.0	47.0	49.0					5																	140168038		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140168038G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2163G>T	5.37:g.140168038G>T						PCDHA1_ENST00000378133.3_Silent_p.L721L|PCDHA1_ENST00000394633.3_Intron	p.L721L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2163	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.2163G>T	CCDS54913.1																																																																																				0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	49	1	0	0.150653	1	0.150653	4	49				
SCO1	6341	broad.mit.edu	37	17	10600820	10600820	+	Missense_Mutation	SNP	G	G	A	rs147487151	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:10600820G>A	ENST00000255390.5	-	1	65	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SCO1_ENST00000582053.1_Intron|ADPRM_ENST00000379774.4_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.A2V	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	2					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GACCAGCATCGCCATGAGCCT	0.647																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						c.(4-6)gCg>gTg		SCO1 cytochrome c oxidase assembly protein							25.0	23.0	24.0					17																	10600820		2202	4300	6502	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10600820G>A	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.5C>T	17.37:g.10600820G>A	ENSP00000255390:p.Ala2Val					SCO1_ENST00000577427.1_Missense_Mutation_p.A2V	p.A2V	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN			1	65	-			2					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.5C>T	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749696	0.89753	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.85411	-1.98	4.36	4.36	0.52297	.	0.414217	0.23750	N	0.044925	D	0.86125	0.5858	N	0.24115	0.695	0.28917	N	0.892377	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.80756	-0.1240	10	0.87932	D	0	-3.8089	12.7021	0.57038	0.0:0.0:1.0:0.0	.	2;2	A8MY34;O75880	.;SCO1_HUMAN	V	2	ENSP00000255390:A2V	ENSP00000255390:A2V	A	-	2	0	SCO1	10541545	0.990000	0.36364	0.980000	0.43619	0.015000	0.08874	2.486000	0.45259	2.702000	0.92279	0.655000	0.94253	GCG		0.647	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		4	20	0	0	0	1	0	4	20				
COL6A3	1293	broad.mit.edu	37	2	238283426	238283426	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:238283426C>T	ENST00000295550.4	-	8	3760	c.3308G>A	c.(3307-3309)gGg>gAg	p.G1103E	COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1103	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGGTCGGCCCTCCCAGCAG	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3307-3309)gGg>gAg		collagen, type VI, alpha 3							54.0	55.0	55.0					2																	238283426		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283426C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3308G>A	2.37:g.238283426C>T	ENSP00000295550:p.Gly1103Glu					COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E	p.G1103E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3760	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1103			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3308G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073269	0.55646	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.22	4.34	0.51931	von Willebrand factor, type A (3);	0.262720	0.27901	N	0.017389	T	0.78742	0.4331	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;0.989	T	0.82065	-0.0642	10	0.52906	T	0.07	.	13.8331	0.63393	0.0:0.9265:0.0:0.0735	.	496;696;897;897;1103	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1103;902;897;496;897;903;897;696	ENSP00000295550:G1103E;ENSP00000315609:G902E;ENSP00000315873:G897E;ENSP00000418285:G496E;ENSP00000386844:G897E;ENSP00000295546:G903E;ENSP00000375861:G897E;ENSP00000375860:G696E	ENSP00000295550:G1103E	G	-	2	0	COL6A3	237948165	1.000000	0.71417	0.016000	0.15963	0.139000	0.21198	7.591000	0.82666	1.324000	0.45282	0.655000	0.94253	GGG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		15	37	0	0	0	1	0	15	37				
CNTN6	27255	broad.mit.edu	37	3	1367541	1367541	+	Missense_Mutation	SNP	C	C	T	rs150393896		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:1367541C>T	ENST00000446702.2	+	9	1616	c.989C>T	c.(988-990)tCt>tTt	p.S330F	CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F|CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F			Q9UQ52	CNTN6_HUMAN	contactin 6	330	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACACACCTCTCTATCTATGAC	0.418																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(988-990)tCt>tTt		contactin 6							122.0	113.0	116.0					3																	1367541		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1367541C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.989C>T	3.37:g.1367541C>T	ENSP00000407822:p.Ser330Phe					CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F	p.S330F			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	9	1616	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	330			Ig-like C2-type 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.989C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008739	0.75046	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.69685	-0.42;-0.42;-0.42	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.53938	D	0.000041	T	0.72558	0.3475	N	0.24115	0.695	0.40861	D	0.983834	D	0.76494	0.999	D	0.87578	0.998	T	0.76942	-0.2772	10	0.66056	D	0.02	.	17.0749	0.86583	0.0:1.0:0.0:0.0	.	330	Q9UQ52	CNTN6_HUMAN	F	330;258;330	ENSP00000407822:S330F;ENSP00000442791:S258F;ENSP00000341882:S330F	ENSP00000341882:S330F	S	+	2	0	CNTN6	1342541	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.274000	0.65569	2.460000	0.83146	0.650000	0.86243	TCT		0.418	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		12	62	0	0	0	1	0	12	62				
PHACTR3	116154	broad.mit.edu	37	20	58348360	58348360	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr20:58348360A>T	ENST00000371015.1	+	6	1245	c.778A>T	c.(778-780)Agc>Tgc	p.S260C	PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	260						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCAAGCCTCCAGCATGAAGAG	0.632																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(778-780)Agc>Tgc		phosphatase and actin regulator 3							86.0	88.0	87.0					20																	58348360		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348360A>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.778A>T	20.37:g.58348360A>T	ENSP00000360054:p.Ser260Cys					PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C	p.S260C	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1245	+	all_lung(29;0.00344)		260					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.778A>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	A	2.469	-0.322298	0.05350	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.32023	1.79;1.81;1.47;1.81;1.81;1.81;1.47	5.13	-1.83	0.07833	.	0.604159	0.18799	N	0.130823	T	0.16514	0.0397	N	0.22421	0.69	0.09310	N	1	B;P;B	0.37997	0.001;0.614;0.001	B;B;B	0.32624	0.002;0.149;0.002	T	0.06734	-1.0810	10	0.54805	T	0.06	-8.4802	10.5006	0.44804	0.4508:0.0:0.5492:0.0	.	149;260;257	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	C	257;260;149;219;219;219;149	ENSP00000353002:S257C;ENSP00000360054:S260C;ENSP00000379001:S149C;ENSP00000442483:S219C;ENSP00000347866:S219C;ENSP00000378998:S219C;ENSP00000354555:S149C	ENSP00000347866:S219C	S	+	1	0	PHACTR3	57781755	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	0.258000	0.18387	-0.852000	0.04141	-2.200000	0.00306	AGC		0.632	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		22	57	0	0	0	1	0	22	57				
F13A1	2162	broad.mit.edu	37	6	6305671	6305671	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:6305671G>A	ENST00000264870.3	-	3	497	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	78					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R78C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGCCCTCTGCGGACAATCAGC	0.478																																						ENST00000264870.3																			1	Substitution - Missense(1)	p.R78C(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	GRCh37	CM023370	F13A1	M		c.(232-234)Cgc>Tgc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						271.0	212.0	232.0					6																	6305671		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305671G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.232C>T	6.37:g.6305671G>A	ENSP00000264870:p.Arg78Cys						p.R78C	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			3	497	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	78					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.232C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890227	0.72524	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.98958	-5.27;-5.27	5.48	5.48	0.80851	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	10	0.87932	D	0	.	16.8495	0.85990	0.0:0.0:1.0:0.0	.	78	P00488	F13A_HUMAN	C	78;78;116	ENSP00000264870:R78C;ENSP00000413334:R78C	ENSP00000264870:R78C	R	-	1	0	F13A1	6250670	1.000000	0.71417	0.344000	0.25628	0.772000	0.43724	7.501000	0.81600	2.572000	0.86782	0.585000	0.79938	CGC		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		19	54	0	0	0	1	0	19	54				
EVPL	2125	broad.mit.edu	37	17	74006445	74006445	+	Silent	SNP	G	G	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:74006445G>C	ENST00000301607.3	-	22	3094	c.2841C>G	c.(2839-2841)acC>acG	p.T947T	EVPL_ENST00000586740.1_Silent_p.T969T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	947	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGGCCGCTGGGTCCTCAGCT	0.667																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2839-2841)acC>acG		envoplakin							40.0	41.0	41.0					17																	74006445		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006445G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2841C>G	17.37:g.74006445G>C						EVPL_ENST00000586740.1_Silent_p.T969T	p.T947T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3094	-			947			Central fibrous rod domain.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.2841C>G	CCDS11737.1																																																																																				0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		11	36	0	0	0	1	0	11	36				
ATP10B	23120	broad.mit.edu	37	5	160047583	160047583	+	Silent	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr5:160047583G>A	ENST00000327245.5	-	15	3033	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	729					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGGGCAGCGTGCACCAGGG	0.642																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2185-2187)caC>caT		ATPase, class V, type 10B							34.0	38.0	37.0					5																	160047583		2110	4221	6331	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047583G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2187C>T	5.37:g.160047583G>A						CTC-348L5.1_ENST00000523598.1_RNA	p.H729H	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3033	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	729					Q9H725	Silent	SNP	ENST00000327245.5	37	c.2187C>T	CCDS43394.1																																																																																				0.642	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		7	24	0	0	0	1	0	7	24				
CDH16	1014	broad.mit.edu	37	16	66947138	66947138	+	Missense_Mutation	SNP	G	G	A	rs377681344	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:66947138G>A	ENST00000299752.4	-	9	1143	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CDH16_ENST00000568632.1_Missense_Mutation_p.A220V|CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.A317V(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGAGGGGCCGCATAGTCCTC	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		17670	0.002		0.0	False		,,,				2504	0.0					ENST00000299752.4																			1	Substitution - Missense(1)	p.A317V(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(949-951)gCg>gTg		cadherin 16, KSP-cadherin		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	104.0	98.0	100.0		950,950,659,950	3.2	0.0	16		100	0,8600		0,0,4300	no	missense,missense,missense,missense	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	64,64,64,64	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	317/808,317/791,220/733,317/830	66947138	1,12999	2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66947138G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.950C>T	16.37:g.66947138G>A	ENSP00000299752:p.Ala317Val					CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V|CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000568632.1_Missense_Mutation_p.A220V	p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	9	1143	-		Ovarian(137;0.0563)	317			Cadherin 3.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.950C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261961	0.23051	2.27E-4	0.0	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51817	0.69;0.69	5.29	3.2	0.36748	Cadherin (4);Cadherin-like (1);	0.377447	0.25552	N	0.029881	T	0.54711	0.1875	M	0.76574	2.34	0.09310	N	0.999998	P;P;D	0.54601	0.93;0.929;0.967	B;B;P	0.51999	0.307;0.355;0.687	T	0.50197	-0.8856	10	0.66056	D	0.02	-2.9976	7.8555	0.29480	0.0923:0.1635:0.7442:0.0	.	317;317;317	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	V	317;317;281	ENSP00000377619:A317V;ENSP00000299752:A317V	ENSP00000299752:A317V	A	-	2	0	CDH16	65504639	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	0.990000	0.29642	1.366000	0.46076	0.655000	0.94253	GCG		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		4	76	0	0	0	1	0	4	76				
OCA2	4948	broad.mit.edu	37	15	28116315	28116315	+	Silent	SNP	C	C	T	rs41307118		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr15:28116315C>T	ENST00000354638.3	-	21	2384	c.2229G>A	c.(2227-2229)ccG>ccA	p.P743P	OCA2_ENST00000353809.5_Silent_p.P719P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	743			P -> L (in OCA2 and unclassified OCA). {ECO:0000269|PubMed:10649493, ECO:0000269|PubMed:12876664}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TAGCAGTGAACGGGATGTTGT	0.592									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2227-2229)ccG>ccA		oculocutaneous albinism II							159.0	121.0	134.0					15																	28116315		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28116315C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2229G>A	15.37:g.28116315C>T						OCA2_ENST00000353809.5_Silent_p.P719P	p.P743P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	21	2384	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	743		P -> L (in OCA2 and unclassified OCA).			Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.2229G>A	CCDS10020.1																																																																																				0.592	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		8	23	0	0	0	1	0	8	23				
CHRM2	1129	broad.mit.edu	37	7	136699850	136699850	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr7:136699850T>C	ENST00000445907.2	+	3	766	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	80					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CATGAACTTGTACACCCTCTA	0.468																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(238-240)Tac>Cac		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						224.0	199.0	208.0					7																	136699850		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699850T>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.238T>C	7.37:g.136699850T>C	ENSP00000399745:p.Tyr80His					CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|AC009264.1_ENST00000439694.1_RNA	p.Y80H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	766	+			80					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.238T>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703045	0.68501	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.61232	-0.7104	10	0.21540	T	0.41	-15.2224	15.4806	0.75524	0.0:0.0:0.0:1.0	.	80	P08172	ACM2_HUMAN	H	80	ENSP00000399745:Y80H;ENSP00000415386:Y80H;ENSP00000319984:Y80H;ENSP00000380733:Y80H;ENSP00000384937:Y80H;ENSP00000384401:Y80H	ENSP00000319984:Y80H	Y	+	1	0	CHRM2	136350390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.959000	0.87885	2.059000	0.61396	0.524000	0.50904	TAC		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			22	90	0	0	0	1	0	22	90				
C12orf74	338809	broad.mit.edu	37	12	93100898	93100898	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr12:93100898G>A	ENST00000397833.3	+	2	942	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	C12orf74_ENST00000544406.2_Missense_Mutation_p.R164Q	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	164										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCCACCCTACGACACCCTAGT	0.552																																						ENST00000544406.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(490-492)cGa>cAa		chromosome 12 open reading frame 74							26.0	28.0	27.0					12																	93100898		1976	4145	6121	SO:0001583	missense	338809							g.chr12:93100898G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.491G>A	12.37:g.93100898G>A	ENSP00000380933:p.Arg164Gln					C12orf74_ENST00000397833.3_Missense_Mutation_p.R164Q	p.R164Q			Q32Q52	CL074_HUMAN			2	757	+			164					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.491G>A	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	2.937	-0.219785	0.06061	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.81	-9.61	0.00550	.	.	.	.	.	T	0.11495	0.0280	N	0.04508	-0.205	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.04013	0.001;0.001	T	0.16482	-1.0401	8	0.15499	T	0.54	8.7047	6.1836	0.20486	0.5959:0.1215:0.206:0.0766	.	164;164	F5H4P0;Q32Q52	.;CL074_HUMAN	Q	164	.	ENSP00000380933:R164Q	R	+	2	0	C12orf74	91625029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.097000	0.01348	-3.161000	0.00228	-1.134000	0.01955	CGA		0.552	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		6	20	0	0	0	1	0	6	20				
DNAJC13	23317	broad.mit.edu	37	3	132196704	132196704	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:132196704T>A	ENST00000260818.6	+	23	2765	c.2517T>A	c.(2515-2517)gaT>gaA	p.D839E		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	839					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAGGAAGATGAGAATGAAG	0.348																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2515-2517)gaT>gaA		DnaJ (Hsp40) homolog, subfamily C, member 13							102.0	112.0	108.0					3																	132196704		2203	4299	6502	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196704T>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2517T>A	3.37:g.132196704T>A	ENSP00000260818:p.Asp839Glu						p.D839E	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			23	2765	+			839					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2517T>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165253	0.57476	.	.	ENSG00000138246	ENST00000260818	T	0.12465	2.68	5.26	5.26	0.73747	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	L	0.27053	0.805	0.58432	D	0.999998	B	0.21452	0.056	B	0.15870	0.014	T	0.04565	-1.0942	10	0.72032	D	0.01	.	15.4676	0.75412	0.0:0.0:0.0:1.0	.	839	O75165	DJC13_HUMAN	E	839	ENSP00000260818:D839E	ENSP00000260818:D839E	D	+	3	2	DNAJC13	133679394	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.333000	0.33816	2.110000	0.64415	0.377000	0.23210	GAT		0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		17	104	0	0	0	1	0	17	104				
HIST1H3C	8352	broad.mit.edu	37	6	26045770	26045770	+	Silent	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:26045770G>A	ENST00000540144.1	+	1	132	c.132G>A	c.(130-132)ccG>ccA	p.P44P	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	44					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCTACCGCCCGGGCACCGTGG	0.647																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(130-132)ccG>ccA		histone cluster 1, H3c							47.0	50.0	49.0					6																	26045770		2203	4300	6503	SO:0001819	synonymous_variant	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045770G>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.132G>A	6.37:g.26045770G>A							p.P44P	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	132	+			44					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	c.132G>A	CCDS4576.1																																																																																				0.647	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		6	68	0	0	0	1	0	6	68				
CGA	1081	broad.mit.edu	37	6	87796012	87796012	+	Missense_Mutation	SNP	C	C	T	rs145503313		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:87796012C>T	ENST00000369582.2	-	3	329	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	77					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.V77I(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TCTGAGGTGACGTTCTTTTGG	0.483																																						ENST00000369582.2																			1	Substitution - Missense(1)	p.V77I(1)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15						c.(229-231)Gtc>Atc		glycoprotein hormones, alpha polypeptide		C	ILE/VAL	0,4406		0,0,2203	196.0	192.0	193.0		229	4.3	0.9	6	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense	CGA	NM_000735.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	77/117	87796012	1,13005	2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796012C>T	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.229G>A	6.37:g.87796012C>T	ENSP00000358595:p.Val77Ile						p.V77I	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	329	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	77						Missense_Mutation	SNP	ENST00000369582.2	37	c.229G>A	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	C	0.161	-1.080860	0.01888	0.0	1.16E-4	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.35	0.52113	.	0.046039	0.85682	N	0.000000	T	0.02230	0.0069	N	0.00339	-1.615	0.29560	N	0.850677	B	0.15930	0.015	B	0.18561	0.022	T	0.44298	-0.9337	9	0.02654	T	1	-21.153	10.3843	0.44129	0.0:0.0853:0.0:0.9147	.	77	P01215	GLHA_HUMAN	I	77	.	ENSP00000358595:V77I	V	-	1	0	CGA	87852731	1.000000	0.71417	0.900000	0.35374	0.001000	0.01503	4.616000	0.61197	0.838000	0.34948	-0.225000	0.12378	GTC		0.483	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		4	93	0	0	0	1	0	4	93				
TACC2	10579	broad.mit.edu	37	10	123844843	123844843	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:123844843C>T	ENST00000369005.1	+	4	3168	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000334433.3_Missense_Mutation_p.A943V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	943					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGTTGCCTGCACTAGGGGAG	0.527																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2827-2829)gCa>gTa		transforming, acidic coiled-coil containing protein 2							98.0	101.0	100.0					10																	123844843		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844843C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2828C>T	10.37:g.123844843C>T	ENSP00000358001:p.Ala943Val					TACC2_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A943V	p.A943V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3168	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	943					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2828C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900520	0.17686	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03065	4.06;4.09;4.1;4.06;4.09	4.99	0.51	0.16983	.	0.717864	0.11504	N	0.557418	T	0.03390	0.0098	L	0.34521	1.04	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.08055	0.003;0.003;0.003	T	0.40232	-0.9574	10	0.72032	D	0.01	-1.4161	6.445	0.21871	0.1292:0.6115:0.0:0.2592	.	943;943;943	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	943;943;943;943;943;933	ENSP00000358001:A943V;ENSP00000424467:A943V;ENSP00000427618:A943V;ENSP00000334280:A943V;ENSP00000395048:A943V	ENSP00000334280:A943V	A	+	2	0	TACC2	123834833	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.537000	0.02206	0.051000	0.15978	-1.193000	0.01689	GCA		0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			22	66	0	0	0	1	0	22	66				
SYNE1	23345	broad.mit.edu	37	6	152679519	152679519	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:152679519G>A	ENST00000367255.5	-	66	11198	c.10597C>T	c.(10597-10599)Cgt>Tgt	p.R3533C	SYNE1_ENST00000423061.1_Missense_Mutation_p.R3540C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3540C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3504C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3533C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3533					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGATCACGCAATGTTGTC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10597-10599)Cgt>Tgt		spectrin repeat containing, nuclear envelope 1							198.0	179.0	185.0					6																	152679519		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152679519G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10597C>T	6.37:g.152679519G>A	ENSP00000356224:p.Arg3533Cys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R3540C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3533C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3504C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3540C	p.R3533C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	66	11198	-		Ovarian(120;0.0955)	3533					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10597C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613151	0.46631	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54675	0.56;1.22;0.56;1.22;0.56	5.35	3.49	0.39957	.	0.297961	0.24608	N	0.037066	T	0.51278	0.1665	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;P;P;P	0.55824	0.614;0.614;0.614;0.785	T	0.56721	-0.7932	10	0.62326	D	0.03	.	14.0898	0.64982	0.0:0.0:0.7109:0.2891	.	3533;3533;3533;3540	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	C	3533;3540;3533;3540;3504	ENSP00000356224:R3533C;ENSP00000396024:R3540C;ENSP00000265368:R3533C;ENSP00000390975:R3540C;ENSP00000341887:R3504C	ENSP00000265368:R3533C	R	-	1	0	SYNE1	152721212	1.000000	0.71417	0.933000	0.37362	0.778000	0.44026	3.725000	0.54970	0.578000	0.29487	0.561000	0.74099	CGT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		22	99	0	0	0	1	0	22	99				
EPHA10	284656	broad.mit.edu	37	1	38192843	38192843	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:38192843A>G	ENST00000373048.4	-	8	1702	c.1703T>C	c.(1702-1704)gTc>gCc	p.V568A	EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	568					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTACGGTGACGACAATGGC	0.642																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1702-1704)gTc>gCc		EPH receptor A10							54.0	69.0	64.0					1																	38192843		2068	4198	6266	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38192843A>G	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1703T>C	1.37:g.38192843A>G	ENSP00000362139:p.Val568Ala					EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A	p.V568A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			8	1702	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	568					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1703T>C	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351948	0.41700	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	4.75	3.6	0.41247	.	0.193433	0.25456	N	0.030553	T	0.15089	0.0364	M	0.68952	2.095	0.22896	N	0.998595	B	0.06786	0.001	B	0.06405	0.002	T	0.10660	-1.0620	10	0.54805	T	0.06	.	8.0763	0.30718	0.8953:0.0:0.1047:0.0	.	568	Q5JZY3	EPHAA_HUMAN	A	63;568;63;568	ENSP00000330379:V63A;ENSP00000397746:V568A;ENSP00000441822:V63A;ENSP00000362139:V568A	ENSP00000330379:V63A	V	-	2	0	EPHA10	37965430	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	4.741000	0.62095	1.997000	0.58415	0.379000	0.24179	GTC		0.642	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		3	23	0	0	0	1	0	3	23				
PRCP	5547	broad.mit.edu	37	11	82560220	82560220	+	Silent	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:82560220G>A	ENST00000313010.3	-	6	986	c.792C>T	c.(790-792)tgC>tgT	p.C264C	PRCP_ENST00000535099.1_Silent_p.C159C|PRCP_ENST00000393399.2_Silent_p.C285C	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	264	SKS domain.				angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTAATGGGCTGCATAAGTGAA	0.438																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(790-792)tgC>tgT		prolylcarboxypeptidase (angiotensinase C)							108.0	103.0	105.0					11																	82560220		2203	4300	6503	SO:0001819	synonymous_variant	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82560220G>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.792C>T	11.37:g.82560220G>A						PRCP_ENST00000535099.1_Silent_p.C159C|PRCP_ENST00000393399.2_Silent_p.C285C	p.C264C	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			6	986	-			264			SKS domain.		A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	ENST00000313010.3	37	c.792C>T	CCDS8262.1																																																																																				0.438	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		4	47	0	0	0	1	0	4	47				
ALMS1	7840	broad.mit.edu	37	2	73835695	73835696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:73835695_73835696insA	ENST00000264448.6	+	22	12564_12565	c.12453_12454insA	c.(12454-12456)aaafs	p.K4152fs	ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.K4110fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4152	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAGCTATATAAAAAGGTCAG	0.426																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12451-12456)taaaaafs		Alstrom syndrome 1																																				SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73835695_73835696insA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12458dupA	2.37:g.73835700_73835700dupA	ENSP00000264448:p.Lys4152fs					ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.*K4109fs	p.*K4151fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			22	12564_12565	+			4151					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Ins	INS	ENST00000264448.6	37	c.12453_12454insA	CCDS42697.1																																																																																				0.426	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	25						7	25	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1174-1179)ggccgg>ggGGCccgg		transmembrane protein 184A																																				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586653_1586654insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup						p.392_393GR>GAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1492_1493	-		Ovarian(82;0.0253)	392					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1176_1177insGGC	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		9	11						9	11	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			4	2						4	2	---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:57365774_57365776delCTG	ENST00000278407.4	+	2	258_260	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_ENST00000403558.1_In_Frame_Del_p.L49del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(133-135)del		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1			,	70,4042		1,68,1987					,	0.6	1.0			7	176,7928		6,164,3882	no	coding,coding	SERPING1	NM_001032295.1,NM_000062.2	,	7,232,5869	A1A1,A1R,RR		2.1718,1.7023,2.0138	,	,		246,11970				SO:0001651	inframe_deletion	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57365774_57365776delCTG	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.31_33delCTG	11.37:g.57365783_57365785delCTG	ENSP00000278407:p.Leu15del					SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del	p.L49del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			1	499_501	+			15					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	ENST00000278407.4	37	c.133_135delCTG	CCDS7962.1																																																																																				0.714	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		4	8						4	8	---	---	---	---
MFGE8	4240	broad.mit.edu	37	15	89449106	89449107	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr15:89449106_89449107insT	ENST00000566497.1	-	5	627_628	c.566_567insA	c.(565-567)aacfs	p.N189fs	MFGE8_ENST00000542878.1_Frame_Shift_Ins_p.N145fs|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Frame_Shift_Ins_p.N189fs|MFGE8_ENST00000268151.7_Frame_Shift_Ins_p.N189fs|MFGE8_ENST00000539437.1_Frame_Shift_Ins_p.N181fs			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	189	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CATGCACCGCGTTTTTGTTCCA	0.569																																						ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(541-543)agcfs		milk fat globule-EGF factor 8 protein																																				SO:0001589	frameshift_variant	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89449106_89449107insT	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.567dupA	15.37:g.89449111_89449111dupT	ENSP00000456281:p.Asn189fs					MFGE8_ENST00000542878.1_Frame_Shift_Ins_p.S145fs|MFGE8_ENST00000268151.7_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000566497.1_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000268150.8_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000559997.1_Intron	p.S181fs			Q08431	MFGM_HUMAN			6	678_679	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		189			F5/8 type C 1.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Frame_Shift_Ins	INS	ENST00000566497.1	37	c.542_543insA	CCDS10347.1																																																																																				0.569	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		15	99						15	99	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		7	115						7	115	---	---	---	---
