#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
ALK	238	broad.mit.edu	37	2	29456477	29456477	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:29456477C>A	ENST00000389048.3	-	14	3347	c.2441G>T	c.(2440-2442)tGg>tTg	p.W814L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	814					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCCTCCTGCCCACTCATGCAC	0.483			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2440-2442)tGg>tTg		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						205.0	175.0	185.0					2																	29456477		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29456477C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2441G>T	2.37:g.29456477C>A	ENSP00000373700:p.Trp814Leu					ALK_ENST00000431873.1_Intron	p.W814L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			14	3347	-	Acute lymphoblastic leukemia(172;0.155)		814					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2441G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125981	0.77436	.	.	ENSG00000171094	ENST00000389048	T	0.40225	1.04	5.29	5.29	0.74685	.	0.000000	0.45606	D	0.000356	T	0.64768	0.2628	M	0.73217	2.22	0.80722	D	1	D	0.60160	0.987	D	0.71870	0.975	T	0.64499	-0.6393	9	.	.	.	.	18.958	0.92668	0.0:1.0:0.0:0.0	.	814	Q9UM73	ALK_HUMAN	L	814	ENSP00000373700:W814L	.	W	-	2	0	ALK	29309981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.817000	0.75252	2.478000	0.83669	0.561000	0.74099	TGG		0.483	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	196	1	0	0.00909568	0.150653	0.0100052	4	196				
PDE6B	5158	broad.mit.edu	37	4	647918	647918	+	Missense_Mutation	SNP	C	C	T	rs369995075		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:647918C>T	ENST00000496514.1	+	5	923	c.902C>T	c.(901-903)tCg>tTg	p.S301L	PDE6B_ENST00000255622.6_Missense_Mutation_p.S301L|PDE6B_ENST00000429163.2_Missense_Mutation_p.S22L|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	301	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CAGCCGTACTCGGGCCCACGC	0.647																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(901-903)tCg>tTg		phosphodiesterase 6B, cGMP-specific, rod, beta		T	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	46.0	51.0	49.0		902,902,65	4.3	0.9	4		49	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PDE6B	NM_000283.3,NM_001145291.1,NM_001145292.1	145,145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	301/855,301/854,22/576	647918	1,13003	2203	4299	6502	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:647918C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.902C>T	4.37:g.647918C>T	ENSP00000420295:p.Ser301Leu					PDE6B_ENST00000429163.2_Missense_Mutation_p.S22L|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.S301L|RP11-1191J2.2_ENST00000468356.1_RNA	p.S301L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			5	945	+			301			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.902C>T	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843025	0.51057	0.0	1.16E-4	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000465426;ENST00000487902;ENST00000429163	T;T;T;T;T	0.73152	-0.12;-0.12;-0.19;-0.72;-0.3	5.1	4.26	0.50523	GAF (2);	0.650577	0.15522	N	0.258012	T	0.63379	0.2506	L	0.39898	1.24	0.37015	D	0.895926	P;B;B	0.39696	0.683;0.061;0.05	B;B;B	0.39840	0.311;0.025;0.015	T	0.66464	-0.5917	10	0.45353	T	0.12	.	11.624	0.51134	0.0:0.9131:0.0:0.0869	.	22;301;301	B4DHV7;P35913;P35913-2	.;PDE6B_HUMAN;.	L	301;301;22;22;22	ENSP00000255622:S301L;ENSP00000420295:S301L;ENSP00000418454:S22L;ENSP00000418256:S22L;ENSP00000406334:S22L	ENSP00000255622:S301L	S	+	2	0	PDE6B	637918	0.000000	0.05858	0.864000	0.33941	0.936000	0.57629	0.544000	0.23253	1.159000	0.42565	-0.131000	0.14894	TCG		0.647	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		24	49	0	0	0	0.760397	0	24	49				
MYL6	4637	broad.mit.edu	37	12	56553401	56553401	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:56553401G>A	ENST00000550697.1	+	3	303	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.R21Q|MYL6_ENST00000348108.4_Missense_Mutation_p.R22Q|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.R21Q|RP11-977G19.5_ENST00000553176.1_RNA|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547408.1_Missense_Mutation_p.R21Q|MYL6_ENST00000293422.5_Missense_Mutation_p.R22Q|MYL6_ENST00000547649.1_Missense_Mutation_p.R21Q|MYL6_ENST00000551589.1_Missense_Mutation_p.R21Q|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000536128.1_Missense_Mutation_p.R114Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	21	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CTGTTTGACCGAACAGGTGAT	0.547																																						ENST00000551589.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(61-63)cGa>cAa		myosin, light chain 6, alkali, smooth muscle and non-muscle							129.0	121.0	124.0					12																	56553401		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56553401G>A	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.62G>A	12.37:g.56553401G>A	ENSP00000446955:p.Arg21Gln					MYL6_ENST00000549566.1_Intron|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000547408.1_Missense_Mutation_p.R21Q|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000293422.5_Missense_Mutation_p.R22Q|MYL6_ENST00000536128.1_Missense_Mutation_p.R114Q|MYL6_ENST00000550697.1_Missense_Mutation_p.R21Q|MYL6_ENST00000547649.1_Missense_Mutation_p.R21Q|MYL6_ENST00000348108.4_Missense_Mutation_p.R22Q|MYL6_ENST00000548293.1_Missense_Mutation_p.R21Q|MYL6_ENST00000548400.1_Missense_Mutation_p.R21Q	p.R21Q			P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		3	95	+			21			EF-hand 1.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.62G>A	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150445	0.78001	.	.	ENSG00000092841	ENST00000550697;ENST00000293422;ENST00000348108;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000553056;ENST00000548400;ENST00000548293	D;D;D;D;D;D;D;T;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.29;-1.84	4.68	4.68	0.58851	EF-hand-like domain (1);	0.127213	0.51477	N	0.000096	T	0.75561	0.3866	L	0.33485	1.01	0.58432	D	0.999998	P;B;B;B	0.45902	0.868;0.449;0.137;0.114	B;B;B;B	0.31191	0.125;0.058;0.01;0.042	T	0.81398	-0.0951	10	0.66056	D	0.02	.	16.9232	0.86168	0.0:0.0:1.0:0.0	.	114;21;21;21	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	Q	21;22;22;114;21;21;21;21;21;21	ENSP00000446955:R21Q;ENSP00000293422:R22Q;ENSP00000301540:R22Q;ENSP00000441750:R114Q;ENSP00000446714:R21Q;ENSP00000446721:R21Q;ENSP00000446687:R21Q;ENSP00000448859:R21Q;ENSP00000448101:R21Q	ENSP00000293422:R22Q	R	+	2	0	MYL6	54839668	0.992000	0.36948	1.000000	0.80357	0.987000	0.75469	6.564000	0.73969	2.609000	0.88269	0.563000	0.77884	CGA		0.547	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			4	189	0	0	0	0.150653	0	4	189				
SZT2	23334	broad.mit.edu	37	1	43888908	43888908	+	Missense_Mutation	SNP	G	G	A	rs200614334		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:43888908G>A	ENST00000562955.1	+	15	2176	c.2176G>A	c.(2176-2178)Gtg>Atg	p.V726M	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	726					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTCACCCCCCGTGCTGGGGCC	0.617																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(2176-2178)Gtg>Atg		seizure threshold 2 homolog (mouse)							35.0	34.0	34.0					1																	43888908		876	1990	2866	SO:0001583	missense	23334					peroxisome		g.chr1:43888908G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2176G>A	1.37:g.43888908G>A	ENSP00000457168:p.Val726Met					SZT2_ENST00000372442.1_5'UTR	p.V726M	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			15	2176	+			726					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.2176G>A	CCDS30694.2																																																																																				0.617	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		18	27	0	0	0	0.539581	0	18	27				
DDR2	4921	broad.mit.edu	37	1	162741843	162741843	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:162741843C>T	ENST00000367922.3	+	14	1972	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	DDR2_ENST00000367921.3_Missense_Mutation_p.P512S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	512					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GCCAGTCCAGCCCAGTGGCCC	0.577																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(1534-1536)Ccc>Tcc		discoidin domain receptor tyrosine kinase 2							41.0	34.0	37.0					1																	162741843		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162741843C>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1534C>T	1.37:g.162741843C>T	ENSP00000356899:p.Pro512Ser					DDR2_ENST00000367921.3_Missense_Mutation_p.P512S	p.P512S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		14	1972	+	all_hematologic(112;0.115)		512					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.1534C>T	CCDS1241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.45|13.45	2.240859|2.240859	0.39598|0.39598	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000433757|ENST00000367922;ENST00000367921	.|D;D	.|0.83163	.|-1.69;-1.69	5.42|5.42	3.49|3.49	0.39957|0.39957	.|.	.|0.325610	.|0.34435	.|N	.|0.003977	T|T	0.46698|0.46698	0.1406|0.1406	N|N	0.04959|0.04959	-0.14|-0.14	.|.	.|.	.|.	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.17319|0.17319	-1.0373|-1.0373	4|9	.|0.37606	.|T	.|0.19	.|.	9.7609|9.7609	0.40532|0.40532	0.1607:0.5822:0.257:0.0|0.1607:0.5822:0.257:0.0	.|.	.|512	.|Q16832	.|DDR2_HUMAN	V|S	104|512	.|ENSP00000356899:P512S;ENSP00000356898:P512S	.|ENSP00000356898:P512S	A|P	+|+	2|1	0|0	DDR2|DDR2	161008467|161008467	0.960000|0.960000	0.32886|0.32886	0.984000|0.984000	0.44739|0.44739	0.983000|0.983000	0.72400|0.72400	0.478000|0.478000	0.22212|0.22212	0.589000|0.589000	0.29677|0.29677	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.577	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		11	16	0	0	0	0.411799	0	11	16				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			6	61	0	0	0	0.307466	0	6	61				
TRPM6	140803	broad.mit.edu	37	9	77377508	77377508	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:77377508G>T	ENST00000360774.1	-	26	4316	c.4079C>A	c.(4078-4080)aCt>aAt	p.T1360N	TRPM6_ENST00000449912.2_Missense_Mutation_p.T1355N|TRPM6_ENST00000451710.3_Missense_Mutation_p.T1360N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1360N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1355N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1360					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGCAAGACAGTTTCTGCTGA	0.507																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4078-4080)aCt>aAt		transient receptor potential cation channel, subfamily M, member 6							142.0	146.0	145.0					9																	77377508		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377508G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4079C>A	9.37:g.77377508G>T	ENSP00000354006:p.Thr1360Asn					TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1355N|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1360N|TRPM6_ENST00000449912.2_Missense_Mutation_p.T1355N|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1360N|TRPM6_ENST00000376871.3_Intron	p.T1360N			Q9BX84	TRPM6_HUMAN			26	4316	-			1360					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4079C>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940695	0.52972	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.54071	0.68;0.68;0.68;0.68;0.59	6.02	0.706	0.18133	.	1.118960	0.06392	N	0.717199	T	0.33177	0.0854	L	0.32530	0.975	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.18555	-1.0333	10	0.06365	T	0.9	.	2.5421	0.04728	0.1929:0.1063:0.4826:0.2182	.	1360;1355;1355	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	N	1360;1360;1355;1355;1360;1023;1023	ENSP00000354006:T1360N;ENSP00000407341:T1360N;ENSP00000396672:T1355N;ENSP00000354962:T1355N;ENSP00000366060:T1360N	ENSP00000309693:T1023N	T	-	2	0	TRPM6	76567328	0.000000	0.05858	0.000000	0.03702	0.791000	0.44710	0.444000	0.21661	0.115000	0.18071	0.655000	0.94253	ACT		0.507	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		104	160	1	0	4.80225e-73	0.870114	5.72799e-73	104	160				
MGAM	8972	broad.mit.edu	37	7	141770818	141770818	+	Intron	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:141770818G>A	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.E1696K	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCAAGAGGAGAGTGGAAGAC	0.532																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(5086-5088)Gag>Aag		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						87.0	71.0	76.0					7																	141770818		874	1940	2814	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141770818G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+5550G>A	7.37:g.141770818G>A						MGAM_ENST00000549489.2_Intron	p.E1696K			O43451	MGA_HUMAN			44	5140	+	Melanoma(164;0.0272)		1696			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.5086G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556693	0.45487	.	.	ENSG00000257335	ENST00000475668;ENST00000548812	.	.	.	3.89	-3.38	0.04883	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.20074	N	0.999939	.	.	.	.	.	.	T	0.34104	-0.9842	5	0.13853	T	0.58	.	10.747	0.46187	0.0984:0.6435:0.2581:0.0	.	.	.	.	K	1696;1573	.	ENSP00000316431:E1573K	E	+	1	0	MGAM	141417287	0.001000	0.12720	0.064000	0.19789	0.509000	0.34042	-0.025000	0.12413	-0.200000	0.10300	0.194000	0.17425	GAG		0.532	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	103	0	0	0	0.150653	0	4	103				
OBSCN	84033	broad.mit.edu	37	1	228431148	228431148	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:228431148T>C	ENST00000422127.1	+	10	3238	c.3194T>C	c.(3193-3195)cTg>cCg	p.L1065P	OBSCN_ENST00000570156.2_Missense_Mutation_p.L1157P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.L1065P|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1065	Ig-like 10.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTTCCGCCTGCACATCACA	0.547																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3469-3471)cTg>cCg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							30.0	33.0	32.0					1																	228431148		2034	4175	6209	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228431148T>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3194T>C	1.37:g.228431148T>C	ENSP00000409493:p.Leu1065Pro					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.L1065P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.L1065P	p.L1157P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			11	3544	+		Prostate(94;0.0405)	95			Ig-like 11.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3470T>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	10.58	1.390292	0.25118	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.09723	2.95;2.95	5.11	5.11	0.69529	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.664334	0.12189	N	0.491391	T	0.41166	0.1147	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.982	T	0.28267	-1.0049	10	0.59425	D	0.04	.	14.0887	0.64975	0.0:0.0:0.0:1.0	.	1065;1065	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	P	1065	ENSP00000284548:L1065P;ENSP00000409493:L1065P	ENSP00000284548:L1065P	L	+	2	0	OBSCN	226497771	0.944000	0.32072	0.009000	0.14445	0.005000	0.04900	7.272000	0.78516	1.921000	0.55644	0.377000	0.23210	CTG		0.547	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	16	0	0	0	0.361761	0	11	16				
TMEM170A	124491	broad.mit.edu	37	16	75481522	75481522	+	Silent	SNP	T	T	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:75481522T>G	ENST00000561878.1	-	3	466	c.369A>C	c.(367-369)acA>acC	p.T123T	RP11-77K12.1_ENST00000567194.1_Intron|RP11-77K12.1_ENST00000561887.1_Intron|TMEM170A_ENST00000569540.1_Silent_p.T85T|TMEM170A_ENST00000566980.1_Silent_p.T55T|TMEM170A_ENST00000357613.4_Silent_p.T100T|TMEM170A_ENST00000567796.1_Silent_p.T78T	NM_145254.1	NP_660297.1	Q8WVE7	T170A_HUMAN	transmembrane protein 170A	123						integral component of membrane (GO:0016021)				endometrium(1)	1						CAGTGCCCAGTGTGAGGGCTT	0.408																																						ENST00000357613.4																			0				endometrium(1)	1						c.(298-300)acA>acC		transmembrane protein 170A							188.0	163.0	171.0					16																	75481522		2198	4300	6498	SO:0001819	synonymous_variant	124491					integral to membrane		g.chr16:75481522T>G	BX648484	CCDS10917.1	16q23.1	2008-06-10	2008-06-10	2008-06-10	ENSG00000166822	ENSG00000166822			29577	protein-coding gene	gene with protein product			"""transmembrane protein 170"""	TMEM170		12477932	Standard	NM_145254		Approved	FLJ37611	uc002fee.1	Q8WVE7	OTTHUMG00000137614	ENST00000561878.1:c.369A>C	16.37:g.75481522T>G						TMEM170A_ENST00000567796.1_Silent_p.T78T|RP11-77K12.1_ENST00000567194.1_Intron|TMEM170A_ENST00000561878.1_Silent_p.T123T|RP11-77K12.1_ENST00000561887.1_Intron|TMEM170A_ENST00000566980.1_Silent_p.T55T|TMEM170A_ENST00000569540.1_Silent_p.T85T	p.T100T			Q8WVE7	T170A_HUMAN			3	388	-			123					B2R4R3|B4DPS4|D3DUK2|Q7Z6F3	Silent	SNP	ENST00000561878.1	37	c.300A>C	CCDS10917.1																																																																																				0.408	TMEM170A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269030.2	NM_145254		65	113	0	0	0	0.870114	0	65	113				
PCDHGA2	56113	broad.mit.edu	37	5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	248	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(742-744)cGc>cAc									77.0	78.0	77.0					5																	140719281		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719281G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.743G>A	5.37:g.140719281G>A	ENSP00000378077:p.Arg248His					PCDHGA1_ENST00000517417.1_Intron	p.R248H	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	743	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.743G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	5.530	0.282755	0.10458	.	.	ENSG00000081853	ENST00000394576	T	0.01767	4.65	5.26	0.19	0.15125	Cadherin (4);Cadherin-like (1);	1.220540	0.06134	N	0.671214	T	0.02688	0.0081	L	0.58925	1.835	0.09310	N	1	B;B	0.24426	0.059;0.103	B;B	0.26969	0.021;0.075	T	0.46386	-0.9195	10	0.40728	T	0.16	.	5.2025	0.15273	0.4645:0.2358:0.2997:0.0	.	248;248	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	248	ENSP00000378077:R248H	ENSP00000378077:R248H	R	+	2	0	PCDHGA2	140699465	0.000000	0.05858	0.992000	0.48379	0.024000	0.10985	-1.264000	0.02847	0.325000	0.23359	-0.140000	0.14226	CGC		0.557	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		4	152	0	0	0	0.150653	0	4	152				
MAP3K19	80122	broad.mit.edu	37	2	135745373	135745373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:135745373G>A	ENST00000375845.3	-	7	1099	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	357							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCAGGTTTTCGCGTTTTACTA	0.378																																						ENST00000375845.3																			0											c.(1069-1071)Cga>Tga		mitogen-activated protein kinase kinase kinase 19							59.0	56.0	57.0					2																	135745373		2203	4300	6503	SO:0001587	stop_gained	80122							g.chr2:135745373G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1069C>T	2.37:g.135745373G>A	ENSP00000365005:p.Arg357*					MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron	p.R357*	NM_025052.3	NP_079328.3					7	1099	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.1069C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494529	0.44352	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	4.58	2.09	0.27110	.	0.526148	0.15899	N	0.239179	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5785	0.22581	0.0:0.0894:0.4993:0.4113	.	.	.	.	X	357;244;374	.	ENSP00000351140:R244X	R	-	1	2	YSK4	135461843	0.000000	0.05858	0.007000	0.13788	0.015000	0.08874	0.149000	0.16243	0.243000	0.21327	-0.291000	0.09656	CGA		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		50	69	0	0	0	0.870114	0	50	69				
PHF3	23469	broad.mit.edu	37	6	64422637	64422637	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:64422637T>C	ENST00000262043.3	+	16	5493	c.5153T>C	c.(5152-5154)gTt>gCt	p.V1718A	PHF3_ENST00000393387.1_Missense_Mutation_p.V1718A			Q92576	PHF3_HUMAN	PHD finger protein 3	1718					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AATTTAAAAGTTGCACAAAAC	0.368																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(5152-5154)gTt>gCt		PHD finger protein 3							66.0	67.0	67.0					6																	64422637		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422637T>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5153T>C	6.37:g.64422637T>C	ENSP00000262043:p.Val1718Ala					PHF3_ENST00000393387.1_Missense_Mutation_p.V1718A	p.V1718A			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5493	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1718					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.5153T>C	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.402480	0.01165	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.20881	2.04;2.04	5.97	-4.1	0.03940	.	0.948995	0.08602	N	0.921331	T	0.01870	0.0059	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47156	-0.9139	9	.	.	.	-0.0176	6.3482	0.21361	0.1273:0.5624:0.1183:0.1919	.	1718	Q92576	PHF3_HUMAN	A	1718	ENSP00000262043:V1718A;ENSP00000377048:V1718A	.	V	+	2	0	PHF3	64480596	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.385000	0.07379	-0.313000	0.08728	-0.250000	0.11733	GTT		0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			3	100	0	0	0	0.115264	0	3	100				
CARD14	79092	broad.mit.edu	37	17	78171904	78171904	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:78171904C>T	ENST00000573882.1	+	14	2137	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	CARD14_ENST00000344227.2_Missense_Mutation_p.P534L|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.P297L|CARD14_ENST00000570421.1_Missense_Mutation_p.P534L|RP11-334C17.5_ENST00000570309.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	534					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAGACCTTCCGCAGCTGGAA	0.592																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1600-1602)cCg>cTg		caspase recruitment domain family, member 14							77.0	79.0	79.0					17																	78171904		2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78171904C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1601C>T	17.37:g.78171904C>T	ENSP00000458715:p.Pro534Leu					CARD14_ENST00000570421.1_Missense_Mutation_p.P534L|CARD14_ENST00000392434.2_Missense_Mutation_p.P297L|CARD14_ENST00000344227.2_Missense_Mutation_p.P534L|CARD14_ENST00000573754.1_3'UTR	p.P534L			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		14	2137	+	all_neural(118;0.0952)		534					B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1601C>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	8.603	0.887252	0.17540	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.25912	1.77;2.44	2.81	0.677	0.17964	.	3.813010	0.01012	N	0.003856	T	0.22475	0.0542	L	0.57536	1.79	0.09310	N	1	P;B	0.37708	0.606;0.326	B;B	0.30105	0.111;0.022	T	0.16630	-1.0396	10	0.36615	T	0.2	-0.4844	3.3667	0.07206	0.2521:0.6032:0.0:0.1447	.	297;534	E7ETJ2;Q9BXL6	.;CAR14_HUMAN	L	534;297;297	ENSP00000344549:P534L;ENSP00000376229:P297L	ENSP00000308507:P297L	P	+	2	0	CARD14	75786499	0.000000	0.05858	0.005000	0.12908	0.068000	0.16541	-0.072000	0.11486	0.217000	0.20800	0.467000	0.42956	CCG		0.592	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			27	104	0	0	0	0.717897	0	27	104				
SUPT16H	11198	broad.mit.edu	37	14	21821703	21821703	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:21821703C>T	ENST00000216297.2	-	25	3280	c.2942G>A	c.(2941-2943)gGt>gAt	p.G981D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	981	Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCTTCACTACCCAATGACTC	0.373																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2941-2943)gGt>gAt		suppressor of Ty 16 homolog (S. cerevisiae)							90.0	91.0	91.0					14																	21821703		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21821703C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2942G>A	14.37:g.21821703C>T	ENSP00000216297:p.Gly981Asp						p.G981D	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	25	3280	-	all_cancers(95;0.00115)		981			Glu-rich (acidic).		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2942G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481797	0.44147	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.02	5.02	0.67125	.	0.054165	0.64402	D	0.000001	T	0.60418	0.2267	N	0.20328	0.56	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.53279	-0.8461	9	0.10377	T	0.69	-11.329	17.5553	0.87888	0.0:1.0:0.0:0.0	.	981	Q9Y5B9	SP16H_HUMAN	D	981	.	ENSP00000216297:G981D	G	-	2	0	SUPT16H	20891543	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.644000	0.74338	2.486000	0.83907	0.650000	0.86243	GGT		0.373	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			47	108	0	0	0	0.870114	0	47	108				
PDE4DIP	9659	broad.mit.edu	37	1	144879311	144879311	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:144879311C>T	ENST00000369354.3	-	27	4328	c.4139G>A	c.(4138-4140)cGg>cAg	p.R1380Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1336Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1516Q|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1516Q|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1380					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAGAGGGACCGGACCCGGCT	0.498			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4546-4548)cGg>cAg		phosphodiesterase 4D interacting protein							114.0	129.0	124.0					1																	144879311		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879311C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4139G>A	1.37:g.144879311C>T	ENSP00000358360:p.Arg1380Gln					PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1336Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1516Q|PDE4DIP_ENST00000524974.1_5'UTR	p.R1516Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4585	-			1380					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4547G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782559	0.90282	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.03689	3.84;4.1;4.06;4.08;4.11	5.55	5.55	0.83447	.	.	.	.	.	T	0.11110	0.0271	M	0.66939	2.045	0.80722	D	1	P;D	0.89917	0.941;1.0	P;D	0.80764	0.572;0.994	T	0.01062	-1.1464	9	0.52906	T	0.07	.	17.002	0.86383	0.0:1.0:0.0:0.0	.	1336;1380	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	Q	1336;1380;1380;1516;1516	ENSP00000327209:R1336Q;ENSP00000358360:R1380Q;ENSP00000358363:R1380Q;ENSP00000435654:R1516Q;ENSP00000358366:R1516Q	ENSP00000327209:R1336Q	R	-	2	0	PDE4DIP	143590668	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.262000	0.65501	2.616000	0.88540	0.591000	0.81541	CGG		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		4	298	0	0	0	0.150653	0	4	298				
ZNF229	7772	broad.mit.edu	37	19	44933647	44933647	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:44933647C>T	ENST00000588931.1	-	6	1742	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.E431K|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTGCCACACTCGCTGCAGGTG	0.537																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1291-1293)Gag>Aag		zinc finger protein 229							63.0	72.0	69.0					19																	44933647		2201	4300	6501	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933647C>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1309G>A	19.37:g.44933647C>T	ENSP00000466519:p.Glu437Lys					ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.E437K	p.E431K	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1613	-		Prostate(69;0.0352)	437					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.1291G>A	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619153	0.66787	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.77	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30324	0.0761	L	0.28694	0.88	0.09310	N	1	D	0.61080	0.989	P	0.48873	0.593	T	0.11372	-1.0590	8	0.51188	T	0.08	.	7.2004	0.25877	0.0:0.7208:0.1751:0.1041	.	437	Q9UJW7	ZN229_HUMAN	K	437	.	ENSP00000291187:E437K	E	-	1	0	ZNF229	49625487	0.000000	0.05858	0.308000	0.25141	0.488000	0.33401	-0.319000	0.08039	1.640000	0.50565	0.609000	0.83330	GAG		0.537	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		31	59	0	0	0	0.717897	0	31	59				
USP24	23358	broad.mit.edu	37	1	55638164	55638164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:55638164C>T	ENST00000294383.6	-	4	587	c.588G>A	c.(586-588)tgG>tgA	p.W196*	USP24_ENST00000407756.1_Nonsense_Mutation_p.W84*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	196					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCAGTACCCCACTTGTGAA	0.368																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(586-588)tgG>tgA		ubiquitin specific peptidase 24							102.0	95.0	97.0					1																	55638164		1854	4093	5947	SO:0001587	stop_gained	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55638164C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.588G>A	1.37:g.55638164C>T	ENSP00000294383:p.Trp196*					USP24_ENST00000407756.1_Nonsense_Mutation_p.W84*	p.W196*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			4	587	-			196					Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	ENST00000294383.6	37	c.588G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	36	5.780815	0.96929	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4014	0.98996	0.0:1.0:0.0:0.0	.	.	.	.	X	196;84	.	ENSP00000294383:W196X	W	-	3	0	USP24	55410752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.409000	0.80053	2.819000	0.97034	0.585000	0.79938	TGG		0.368	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			18	70	0	0	0	0.624587	0	18	70				
CD1A	909	broad.mit.edu	37	1	158226760	158226760	+	Silent	SNP	C	C	T	rs376991873		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:158226760C>T	ENST00000289429.5	+	4	1322	c.789C>T	c.(787-789)cgC>cgT	p.R263R		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	263	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.R263R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGTATCTCCGCGCAACCCTGG	0.632																																						ENST00000289429.5																			1	Substitution - coding silent(1)	p.R263R(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(787-789)cgC>cgT		CD1a molecule	Antithymocyte globulin(DB00098)	C		2,4404	4.2+/-10.8	0,2,2201	93.0	86.0	88.0		789	-6.3	0.0	1		88	0,8600		0,0,4300	no	coding-synonymous	CD1A	NM_001763.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		263/328	158226760	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226760C>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.789C>T	1.37:g.158226760C>T							p.R263R	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			4	1322	+	all_hematologic(112;0.0378)		263			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.789C>T	CCDS1174.1																																																																																				0.632	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		66	95	0	0	0	0.870114	0	66	95				
HIF3A	64344	broad.mit.edu	37	19	46800337	46800337	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:46800337G>A	ENST00000377670.4	+	1	35	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	HIF3A_ENST00000244303.6_5'Flank|HIF3A_ENST00000472815.1_5'Flank|HIF3A_ENST00000339613.2_5'Flank	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	2					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCGAGCCATGGCGCTGGGGCT	0.716																																						ENST00000377670.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(4-6)Gcg>Acg		hypoxia inducible factor 3, alpha subunit							14.0	20.0	18.0					19																	46800337		2080	4151	6231	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46800337G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.4G>A	19.37:g.46800337G>A	ENSP00000366898:p.Ala2Thr						p.A2T	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	1	35	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	2					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.4G>A	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970017	0.18659	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707	T	0.54675	0.56	3.13	2.04	0.26737	.	.	.	.	.	T	0.20088	0.0483	N	0.08118	0	0.80722	D	1	P;B;P	0.43477	0.51;0.267;0.808	B;B;B	0.33042	0.091;0.054;0.157	T	0.32771	-0.9894	9	0.02654	T	1	.	7.5171	0.27606	0.0:0.0:0.7448:0.2552	.	2;2;2	Q9Y2N7;B0M185;E7EWV6	HIF3A_HUMAN;.;.	T	2	ENSP00000366898:A2T	ENSP00000244302:A2T	A	+	1	0	HIF3A	51492177	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.058000	0.49939	0.846000	0.35142	0.306000	0.20318	GCG		0.716	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			12	19	0	0	0	0.457914	0	12	19				
ADAM28	10863	broad.mit.edu	37	8	24200636	24200636	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24200636T>C	ENST00000265769.4	+	17	1963	c.1853T>C	c.(1852-1854)gTg>gCg	p.V618A	ADAM28_ENST00000397649.3_Missense_Mutation_p.V365A|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	618	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAGAATGTGTGGATATTGAG	0.383																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1852-1854)gTg>gCg		ADAM metallopeptidase domain 28							124.0	114.0	117.0					8																	24200636		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24200636T>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1853T>C	8.37:g.24200636T>C	ENSP00000265769:p.Val618Ala					RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.V365A|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	p.V618A	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	17	1963	+		Prostate(55;0.0959)	618			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1853T>C	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262673	0.39995	.	.	ENSG00000042980	ENST00000265769;ENST00000397649	T;T	0.16597	2.33;2.33	5.21	4.0	0.46444	ADAM, cysteine-rich (1);	.	.	.	.	T	0.21267	0.0512	M	0.85041	2.73	0.36263	D	0.85466	B;B	0.15473	0.013;0.013	B;B	0.10450	0.005;0.005	T	0.19031	-1.0318	9	0.35671	T	0.21	.	4.6308	0.12500	0.1689:0.0905:0.0:0.7406	.	618;618	B2RMV5;Q9UKQ2	.;ADA28_HUMAN	A	618;365	ENSP00000265769:V618A;ENSP00000380770:V365A	ENSP00000265769:V618A	V	+	2	0	ADAM28	24256581	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.568000	0.45965	1.960000	0.56953	0.533000	0.62120	GTG		0.383	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		3	90	0	0	0	0.150653	0	3	90				
SEMA3F	6405	broad.mit.edu	37	3	50225347	50225347	+	Silent	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:50225347C>T	ENST00000002829.3	+	19	2641	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	SEMA3F_ENST00000413852.1_Silent_p.G620G|SEMA3F_ENST00000434342.1_Silent_p.G688G	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	719					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CACCCCCAGGCGCAGGCCCCC	0.667																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(2155-2157)ggC>ggT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F																																				SO:0001819	synonymous_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50225347C>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2157C>T	3.37:g.50225347C>T						SEMA3F_ENST00000434342.1_Silent_p.G688G|SEMA3F_ENST00000413852.1_Silent_p.G620G	p.G719G	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	19	2641	+			719					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	ENST00000002829.3	37	c.2157C>T	CCDS2811.1																																																																																				0.667	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		10	10	0	0	0	0.361761	0	10	10				
C14orf182	283551	broad.mit.edu	37	14	50472373	50472373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:50472373G>A	ENST00000399206.1	-	1	1865	c.145C>T	c.(145-147)Cga>Tga	p.R49*	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	49								p.R49*(1)		large_intestine(2)|urinary_tract(1)	3						TGTCTGTGTCGTAGAACTGTG	0.527																																						ENST00000399206.1																			1	Substitution - Nonsense(1)	p.R49*(1)	large_intestine(1)	large_intestine(2)|urinary_tract(1)	3						c.(145-147)Cga>Tga		chromosome 14 open reading frame 182							226.0	246.0	239.0					14																	50472373		2051	4191	6242	SO:0001587	stop_gained	283551							g.chr14:50472373G>A	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.145C>T	14.37:g.50472373G>A	ENSP00000382157:p.Arg49*					C14orf182_ENST00000529902.1_5'UTR	p.R49*	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN			1	1865	-			49					A8MYX4	Nonsense_Mutation	SNP	ENST00000399206.1	37	c.145C>T	CCDS41949.1	.	.	.	.	.	.	.	.	.	.	G	48	14.477015	0.99797	.	.	ENSG00000214900	ENST00000399206	.	.	.	3.26	-5.12	0.02893	.	.	.	.	.	.	.	.	.	.	.	0.52501	A	0.999951	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9637	0.05901	0.1373:0.1469:0.5123:0.2035	.	.	.	.	X	49	.	ENSP00000382157:R49X	R	-	1	2	C14orf182	49542123	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.673000	0.01951	-1.031000	0.03308	-0.234000	0.12200	CGA		0.527	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1	NM_001012706		6	288	0	0	0	0.217242	0	6	288				
CALN1	83698	broad.mit.edu	37	7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:71252834C>T	ENST00000329008.5	-	6	884	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T|CALN1_ENST00000395275.2_Missense_Mutation_p.A238T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000431984.1_Missense_Mutation_p.A196T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567																																						ENST00000395275.2																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(712-714)Gcc>Acc		calneuron 1							128.0	100.0	109.0					7																	71252834		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252834C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.586G>A	7.37:g.71252834C>T	ENSP00000332498:p.Ala196Thr					CALN1_ENST00000329008.5_Missense_Mutation_p.A196T|CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000405452.2_Missense_Mutation_p.A196T	p.A238T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN			7	1100	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	196					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.712G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176133	0.94846	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80123	-1.1;-1.34;-1.1;-1.1;-1.34;-1.1	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86975	0.2100	10	0.87932	D	0	-25.7589	17.5493	0.87872	0.0:1.0:0.0:0.0	.	196;196	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	T	196;238;196;196;238;196	ENSP00000332498:A196T;ENSP00000378690:A238T;ENSP00000378691:A196T;ENSP00000410704:A196T;ENSP00000391882:A238T;ENSP00000384354:A196T	ENSP00000332498:A196T	A	-	1	0	CALN1	70890770	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GCC		0.567	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		27	80	0	0	0	0.681144	0	27	80				
CDH12	1010	broad.mit.edu	37	5	21817101	21817101	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:21817101T>G	ENST00000382254.1	-	9	2041	c.955A>C	c.(955-957)Atc>Ctc	p.I319L	CDH12_ENST00000504376.2_Missense_Mutation_p.I319L|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.I279L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	319	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGTGACGATGTCAAACAAA	0.348										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(955-957)Atc>Ctc		cadherin 12, type 2 (N-cadherin 2)							153.0	152.0	152.0					5																	21817101		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817101T>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.955A>C	5.37:g.21817101T>G	ENSP00000371689:p.Ile319Leu	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.I319L|CDH12_ENST00000522262.1_Missense_Mutation_p.I279L|CDH12_ENST00000521384.1_5'UTR	p.I319L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			9	2041	-			319			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.955A>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454648	0.84209	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.62232	0.04;0.04;0.04	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	M	0.67700	2.07	0.53688	D	0.999975	B;P	0.46512	0.402;0.879	P;D	0.71656	0.597;0.974	T	0.79135	-0.1928	10	0.59425	D	0.04	.	15.1071	0.72329	0.0:0.0:0.0:1.0	.	279;319	B7Z2U6;P55289	.;CAD12_HUMAN	L	319;319;279	ENSP00000423577:I319L;ENSP00000371689:I319L;ENSP00000428786:I279L	ENSP00000371689:I319L	I	-	1	0	CDH12	21852858	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.520000	0.81821	2.009000	0.58944	0.528000	0.53228	ATC		0.348	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		7	295	0	0	0	0.278610	0	7	295				
LRRC8E	80131	broad.mit.edu	37	19	7964897	7964897	+	Missense_Mutation	SNP	G	G	A	rs558407711		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:7964897G>A	ENST00000306708.6	+	3	1591	c.1490G>A	c.(1489-1491)cGc>cAc	p.R497H	AC010336.1_ENST00000539278.1_Missense_Mutation_p.R124W|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	497					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GAGGAGCTCCGCGAGGTGCCG	0.657																																						ENST00000539278.1																			0											c.(370-372)Cgg>Tgg									31.0	24.0	27.0					19																	7964897		2201	4298	6499	SO:0001583	missense	0							g.chr19:7964897G>A		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1490G>A	19.37:g.7964897G>A	ENSP00000306524:p.Arg497His					LRRC8E_ENST00000306708.6_Missense_Mutation_p.R497H	p.R124W							1	3530	-								B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.370C>T	CCDS12189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.93|13.93	2.383261|2.383261	0.42207|0.42207	.|.	.|.	ENSG00000171017|ENSG00000214248	ENST00000306708|ENST00000539278	T|.	0.25250|.	1.81|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.120838|0.120838	0.50627|0.50627	D|D	0.000106|0.000106	T|T	0.43344|0.43344	0.1243|0.1243	L|L	0.47716|0.47716	1.5|1.5	0.21290|0.21290	N|N	0.999739|0.999739	D|.	0.69078|.	0.997|.	P|.	0.54100|.	0.742|.	T|T	0.42582|0.42582	-0.9443|-0.9443	10|7	0.52906|0.87932	T|D	0.07|0	.|.	8.8344|8.8344	0.35104|0.35104	0.0994:0.0:0.9006:0.0|0.0994:0.0:0.9006:0.0	.|.	497|.	Q6NSJ5|.	LRC8E_HUMAN|.	H|W	497|124	ENSP00000306524:R497H|.	ENSP00000306524:R497H|ENSP00000441047:R124W	R|R	+|-	2|1	0|2	LRRC8E|AC010336.2	7870897|7870897	0.946000|0.946000	0.32159|0.32159	0.945000|0.945000	0.38365|0.38365	0.960000|0.960000	0.62799|0.62799	2.176000|2.176000	0.42500|0.42500	2.491000|2.491000	0.84063|0.84063	0.650000|0.650000	0.86243|0.86243	CGC|CGG		0.657	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		10	20	0	0	0	0.387290	0	10	20				
PKHD1	5314	broad.mit.edu	37	6	51613287	51613287	+	Missense_Mutation	SNP	C	C	A	rs554169314		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51613287C>A	ENST00000371117.3	-	58	9402	c.9127G>T	c.(9127-9129)Gtg>Ttg	p.V3043L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3043L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3043					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGCCAAACACAATATTGTCA	0.493																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9127-9129)Gtg>Ttg		polycystic kidney and hepatic disease 1 (autosomal recessive)							70.0	65.0	67.0					6																	51613287		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613287C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9127G>T	6.37:g.51613287C>A	ENSP00000360158:p.Val3043Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.V3043L	p.V3043L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9402	-	Lung NSC(77;0.0605)		3043					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9127G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	6.373	0.436913	0.12104	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80738	-1.41;-1.32	5.86	3.92	0.45320	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.288637	0.30219	N	0.010124	T	0.56499	0.1989	L	0.46885	1.475	0.21473	N	0.999678	B;P;B	0.34837	0.149;0.472;0.149	B;B;B	0.32724	0.093;0.151;0.093	T	0.50127	-0.8864	10	0.41790	T	0.15	.	8.0108	0.30353	0.1409:0.711:0.0:0.1481	.	3043;3043;3043	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3043	ENSP00000360158:V3043L;ENSP00000341097:V3043L	ENSP00000341097:V3043L	V	-	1	0	PKHD1	51721246	0.620000	0.27068	0.141000	0.22245	0.073000	0.16967	1.024000	0.30077	1.491000	0.48482	0.655000	0.94253	GTG		0.493	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		46	45	1	0	1.76056e-25	0.859065	2.00339e-25	46	45				
PCSK4	54760	broad.mit.edu	37	19	1488063	1488063	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:1488063A>G	ENST00000300954.5	-	4	477	c.416T>C	c.(415-417)aTc>aCc	p.I139T	PCSK4_ENST00000587784.1_5'UTR|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTGCAGGATGCTCAGGTC	0.672																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(415-417)aTc>aCc		proprotein convertase subtilisin/kexin type 4							83.0	85.0	84.0					19																	1488063		2203	4300	6503	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1488063A>G	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.416T>C	19.37:g.1488063A>G	ENSP00000300954:p.Ile139Thr					PCSK4_ENST00000587784.1_5'UTR	p.I139T	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	477	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	139			Catalytic (By similarity).			Missense_Mutation	SNP	ENST00000300954.5	37	c.416T>C	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	A	4.308	0.056421	0.08291	.	.	ENSG00000115257	ENST00000300954	T	0.81247	-1.47	2.52	1.31	0.21738	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.742684	0.11095	N	0.600375	T	0.69922	0.3165	L	0.48642	1.525	0.09310	N	0.999998	P	0.36282	0.546	B	0.30401	0.115	T	0.62581	-0.6824	10	0.62326	D	0.03	.	6.9723	0.24656	0.7962:0.0:0.0:0.2038	.	139	Q6UW60	PCSK4_HUMAN	T	139	ENSP00000300954:I139T	ENSP00000300954:I139T	I	-	2	0	PCSK4	1439063	0.127000	0.22367	0.592000	0.28758	0.032000	0.12392	3.981000	0.56902	1.151000	0.42436	0.402000	0.26972	ATC		0.672	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		4	253	0	0	0	0.150653	0	4	253				
ANKEF1	63926	broad.mit.edu	37	20	10030224	10030224	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:10030224G>A	ENST00000378380.3	+	6	1336	c.1007G>A	c.(1006-1008)cGt>cAt	p.R336H	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R336H|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	336	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										TCCGTAGAACGTGAGGCTTTC	0.512																																						ENST00000378380.3																			0											c.(1006-1008)cGt>cAt		ankyrin repeat and EF-hand domain containing 1							75.0	73.0	74.0					20																	10030224		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10030224G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1007G>A	20.37:g.10030224G>A	ENSP00000367631:p.Arg336His					ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R336H|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	p.R336H	NM_198798.1	NP_942093.1					6	1336	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.1007G>A	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.535008	0.00942	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.64803	-0.12;-0.12	5.6	1.4	0.22301	Ankyrin repeat-containing domain (1);EF-hand-like domain (1);	0.394547	0.32518	N	0.005983	T	0.20700	0.0498	N	0.00210	-1.845	0.22858	N	0.998644	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	10	0.14656	T	0.56	0.0026	10.1779	0.42950	0.8211:0.0:0.1789:0.0	.	336	Q9NU02	ANKR5_HUMAN	H	336	ENSP00000367644:R336H;ENSP00000367631:R336H	ENSP00000367631:R336H	R	+	2	0	ANKRD5	9978224	0.783000	0.28701	0.265000	0.24526	0.004000	0.04260	2.547000	0.45786	0.109000	0.17891	-0.355000	0.07637	CGT		0.512	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		44	99	0	0	0	0.859065	0	44	99				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	101	0	0	0	0.278610	0	4	101				
ADAM7	8756	broad.mit.edu	37	8	24346749	24346749	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24346749T>G	ENST00000175238.6	+	12	1252	c.1169T>G	c.(1168-1170)aTg>aGg	p.M390R	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.M162R|ADAM7_ENST00000380789.1_Missense_Mutation_p.M390R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	390	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCAACATGCATGCTCAACATT	0.398																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(1168-1170)aTg>aGg		ADAM metallopeptidase domain 7							159.0	134.0	142.0					8																	24346749		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24346749T>G	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1169T>G	8.37:g.24346749T>G	ENSP00000175238:p.Met390Arg					ADAM7_ENST00000380789.1_Missense_Mutation_p.M390R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.M162R	p.M390R	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	12	1252	+		Prostate(55;0.0181)	390			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.1169T>G	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449616	0.63178	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.64085	-0.08;-0.08;-0.08	5.74	5.74	0.90152	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.438355	0.22203	N	0.063201	T	0.71609	0.3360	M	0.64404	1.975	0.32825	D	0.503229	D;D	0.56287	0.975;0.975	P;P	0.55055	0.569;0.767	T	0.80837	-0.1204	10	0.87932	D	0	.	14.0007	0.64431	0.0:0.0:0.0:1.0	.	162;390	E5RK87;Q9H2U9	.;ADAM7_HUMAN	R	390;390;162;205	ENSP00000175238:M390R;ENSP00000370166:M390R;ENSP00000430400:M162R	ENSP00000175238:M390R	M	+	2	0	ADAM7	24402639	0.972000	0.33761	0.142000	0.22268	0.005000	0.04900	5.566000	0.67372	2.183000	0.69458	0.533000	0.62120	ATG		0.398	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		44	72	0	0	0	0.870114	0	44	72				
NPAP1	23742	broad.mit.edu	37	15	24921561	24921561	+	Missense_Mutation	SNP	G	G	A	rs151186438	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:24921561G>A	ENST00000329468.2	+	1	1021	c.547G>A	c.(547-549)Gga>Aga	p.G183R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	183					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCTTAGCAGCGGAGAAGCATC	0.597													G|||	14	0.00279553	0.0098	0.0	5008	,	,		17488	0.001		0.0	False		,,,				2504	0.0					ENST00000329468.2																			0											c.(547-549)Gga>Aga		nuclear pore associated protein 1		G	ARG/GLY	48,4358		1,46,2156	48.0	40.0	43.0		547	0.3	0.0	15	dbSNP_134	43	0,8600		0,0,4300	yes	missense	C15orf2	NM_018958.2	125	1,46,6456	AA,AG,GG		0.0,1.0894,0.3691	benign	183/1157	24921561	48,12958	2203	4300	6503	SO:0001583	missense	23742							g.chr15:24921561G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.547G>A	15.37:g.24921561G>A	ENSP00000333735:p.Gly183Arg						p.G183R	NM_018958.2	NP_061831.2					1	1021	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.547G>A	CCDS10015.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	6.148	0.395469	0.11638	0.010894	0.0	ENSG00000185823	ENST00000329468	T	0.13901	2.55	2.36	0.266	0.15617	.	1.398570	0.05088	N	0.484776	T	0.07188	0.0182	L	0.43923	1.385	0.09310	N	1	P	0.43314	0.803	B	0.36464	0.225	T	0.27468	-1.0073	10	0.27082	T	0.32	.	3.489	0.07630	0.1673:0.268:0.5647:0.0	.	183	Q9NZP6	CO002_HUMAN	R	183	ENSP00000333735:G183R	ENSP00000333735:G183R	G	+	1	0	C15orf2	22472654	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.988000	0.03739	0.079000	0.16929	0.430000	0.28490	GGA		0.597	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		20	27	0	0	0	0.575678	0	20	27				
RGN	9104	broad.mit.edu	37	X	46943843	46943843	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:46943843C>T	ENST00000352078.4	+	3	535	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RGN_ENST00000457380.1_Missense_Mutation_p.R64C|RGN_ENST00000469346.1_3'UTR|RGN_ENST00000336169.3_Missense_Mutation_p.R64C|RGN_ENST00000397180.1_Missense_Mutation_p.R64C	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	64					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGGCTCTTCGCCAGTCGGG	0.493																																						ENST00000397180.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(190-192)Cgc>Tgc		regucalcin							134.0	92.0	106.0					X																	46943843		2203	4300	6503	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46943843C>T	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.190C>T	X.37:g.46943843C>T	ENSP00000253303:p.Arg64Cys					RGN_ENST00000457380.1_Missense_Mutation_p.R64C|RGN_ENST00000469346.1_3'UTR|RGN_ENST00000352078.4_Missense_Mutation_p.R64C|RGN_ENST00000336169.3_Missense_Mutation_p.R64C	p.R64C	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN			4	1159	+			64					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.190C>T	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616289	0.66672	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.57	5.57	0.84162	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.047896	0.85682	N	0.000000	T	0.57080	0.2029	M	0.72118	2.19	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57004	-0.7885	10	0.48119	T	0.1	-8.0848	18.5734	0.91145	0.0:1.0:0.0:0.0	.	64;64	Q15493-2;Q15493	.;RGN_HUMAN	C	64	ENSP00000380365:R64C;ENSP00000406568:R64C;ENSP00000253303:R64C;ENSP00000338400:R64C	ENSP00000338400:R64C	R	+	1	0	RGN	46828787	1.000000	0.71417	0.998000	0.56505	0.137000	0.21094	5.105000	0.64591	2.330000	0.79161	0.513000	0.50165	CGC		0.493	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		16	4	0	0	0	0.539581	0	16	4				
TSSC2	650368	broad.mit.edu	37	11	3427830	3427830	+	RNA	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:3427830G>A	ENST00000529482.1	+	0	947									tumor suppressing subtransferable candidate 2 pseudogene																		TGTGTGTGCCGTGAACTTCAA	0.582																																						ENST00000529482.1																			0																																																			0							g.chr11:3427830G>A			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427830G>A														0	947	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.582	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	78	0	0	0	0.150653	0	4	78				
COL19A1	1310	broad.mit.edu	37	6	70866054	70866054	+	Silent	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:70866054G>A	ENST00000322773.4	+	32	2217	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	COL19A1_ENST00000393344.1_Silent_p.G327G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	705	Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGTCCCAGGGCTGAAAAGCA	0.473																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2113-2115)ggG>ggA		collagen, type XIX, alpha 1							105.0	90.0	95.0					6																	70866054		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866054G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2115G>A	6.37:g.70866054G>A						COL19A1_ENST00000393344.1_Silent_p.G327G	p.G705G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			32	2217	+			705			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.2115G>A	CCDS4970.1																																																																																				0.473	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			39	48	0	0	0	0.847076	0	39	48				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			0							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	254	0	0	0	0.361761	0	7	254				
FER1L6	654463	broad.mit.edu	37	8	125094698	125094698	+	Splice_Site	SNP	A	A	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:125094698A>T	ENST00000522917.1	+	33	4596	c.4390A>T	c.(4390-4392)Ata>Tta	p.I1464L	FER1L6_ENST00000399018.1_Splice_Site_p.I1464L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1464						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAGTATGAGATGTAAGTTCT	0.512																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.e33+1		fer-1-like 6 (C. elegans)							120.0	132.0	128.0					8																	125094698		2203	4300	6503	SO:0001630	splice_region_variant	654463					integral to membrane		g.chr8:125094698A>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4391+1A>T	8.37:g.125094698A>T						FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site_p.I1464_splice	p.I1464_splice	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		33	4596	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1464						Splice_Site	SNP	ENST00000522917.1	37	c.4391_splice	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236627	0.39498	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.61158	0.13;0.13	5.73	4.58	0.56647	C2 calcium/lipid-binding domain, CaLB (1);	0.057797	0.64402	U	0.000003	T	0.50956	0.1646	L	0.59967	1.855	0.48185	D	0.999608	B	0.16802	0.019	B	0.14578	0.011	T	0.43212	-0.9405	10	0.19590	T	0.45	-14.2044	11.7157	0.51653	0.9312:0.0:0.0688:0.0	.	1464	Q2WGJ9	FR1L6_HUMAN	L	1464	ENSP00000428280:I1464L;ENSP00000381982:I1464L	ENSP00000381982:I1464L	I	+	1	0	FER1L6	125163879	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.274000	0.43390	1.109000	0.41680	0.533000	0.62120	ATA		0.512	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	Missense_Mutation	62	103	0	0	0	0.870114	0	62	103				
PTPN11	5781	broad.mit.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	rs121918454		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		A -> G (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.|A -> S (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870}.|A -> T (in JMML). {ECO:0000269|PubMed:12717436}.|A -> V (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		38	Substitution - Missense(38)	p.A72V(35)|p.A72D(3)	haematopoietic_and_lymphoid_tissue(38)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM013417	PTPN11	M	rs121918454	c.(214-216)gCc>gAc		protein tyrosine phosphatase, non-receptor type 11							154.0	142.0	146.0					12																	112888199		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888199C>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.215C>A	12.37:g.112888199C>A	ENSP00000340944:p.Ala72Asp					PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			3	413	+			72		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).	SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.215C>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940643	0.92526	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96073	-3.9;-3.9	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	L	0.33624	1.015	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71184	0.938;0.972	D	0.96297	0.9218	10	0.62326	D	0.03	.	14.8021	0.69924	0.0:0.9312:0.0:0.0688	.	72;72	Q06124-2;Q06124-3	.;.	D	72	ENSP00000376376:A72D;ENSP00000340944:A72D	ENSP00000340944:A72D	A	+	2	0	PTPN11	111372582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	1.496000	0.48567	0.650000	0.86243	GCC		0.418	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			74	120	1	0	5.32961e-40	0.870114	6.20743e-40	74	120				
TRIP13	9319	broad.mit.edu	37	5	908507	908507	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:908507C>T	ENST00000166345.3	+	9	1153	c.797C>T	c.(796-798)gCg>gTg	p.A266V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	266					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCCTGCAGGGCGGGCACCGAG	0.562																																						ENST00000166345.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(796-798)gCg>gTg		thyroid hormone receptor interactor 13							63.0	66.0	65.0					5																	908507		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:908507C>T	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.797C>T	5.37:g.908507C>T	ENSP00000166345:p.Ala266Val						p.A266V	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		9	1153	+			266					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.797C>T	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	18.54	3.645620	0.67358	.	.	ENSG00000071539	ENST00000166345	D	0.93076	-3.16	6.08	5.22	0.72569	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95191	0.8441	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	D	0.95283	0.8388	10	0.56958	D	0.05	-15.1393	15.3223	0.74132	0.0:0.9327:0.0:0.0673	.	266	Q15645	PCH2_HUMAN	V	266	ENSP00000166345:A266V	ENSP00000166345:A266V	A	+	2	0	TRIP13	961507	1.000000	0.71417	0.914000	0.36105	0.027000	0.11550	7.255000	0.78338	1.604000	0.50143	-0.119000	0.15052	GCG		0.562	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		46	69	0	0	0	0.870114	0	46	69				
VWF	7450	broad.mit.edu	37	12	6219737	6219737	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:6219737G>A	ENST00000261405.5	-	5	589	c.335C>T	c.(334-336)cCc>cTc	p.P112L	VWF_ENST00000572068.1_Missense_Mutation_p.P149L	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	112	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGGCATAGGGCATGGAGAC	0.537																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(334-336)cCc>cTc		von Willebrand factor	Antihemophilic Factor(DB00025)						72.0	76.0	74.0					12																	6219737		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6219737G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.335C>T	12.37:g.6219737G>A	ENSP00000261405:p.Pro112Leu					VWF_ENST00000572068.1_Missense_Mutation_p.P149L	p.P112L	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			5	589	-			112			VWFD 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.335C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	19.71	3.877486	0.72294	.	.	ENSG00000110799	ENST00000261405	T	0.65916	-0.18	5.9	5.9	0.94986	von Willebrand factor, type D domain (3);	0.000000	0.42682	D	0.000667	D	0.87059	0.6083	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.90623	0.4561	10	0.87932	D	0	.	19.2581	0.93955	0.0:0.0:1.0:0.0	.	112;149;112	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	L	112	ENSP00000261405:P112L	ENSP00000261405:P112L	P	-	2	0	VWF	6089998	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	8.026000	0.88783	2.804000	0.96469	0.655000	0.94253	CCC		0.537	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	136	0	0	0	0.150653	0	4	136				
SLC6A2	6530	broad.mit.edu	37	16	55705795	55705795	+	Intron	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:55705795G>A	ENST00000379906.2	+	3	661				SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V13M|SLC6A2_ENST00000568943.1_Intron|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000561820.1_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2						monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCAAGGAGAGGTGGCTGTGGG	0.602																																						ENST00000567238.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(37-39)Gtg>Atg		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)																																			SO:0001627	intron_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55705795G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.407-55G>A	16.37:g.55705795G>A						SLC6A2_ENST00000568943.1_Intron|SLC6A2_ENST00000379906.2_Intron|SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000414754.3_Intron	p.V13M	NM_001172502.1	NP_001165973.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	1	213	+			0					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.37G>A	CCDS10754.1																																																																																				0.602	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			14	30	0	0	0	0.500413	0	14	30				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	282	0	0	0	0.150653	0	4	282				
ATP8B4	79895	broad.mit.edu	37	15	50288937	50288937	+	Missense_Mutation	SNP	G	G	A	rs116334504	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:50288937G>A	ENST00000284509.6	-	9	667	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R176C|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	176						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGTGCATGGCGGACTTTTAGG	0.398													G|||	18	0.00359425	0.0	0.0072	5008	,	,		19810	0.0119		0.0	False		,,,				2504	0.001					ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(526-528)Cgc>Tgc		ATPase, class I, type 8B, member 4		G	CYS/ARG	2,4390	4.2+/-10.8	0,2,2194	134.0	123.0	127.0		526	3.8	0.9	15	dbSNP_132	127	0,8590		0,0,4295	yes	missense	ATP8B4	NM_024837.2	180	0,2,6489	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	176/1193	50288937	2,12980	2196	4295	6491	SO:0001583	missense	79895				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.chr15:50288937G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.526C>T	15.37:g.50288937G>A	ENSP00000284509:p.Arg176Cys					ATP8B4_ENST00000559829.1_Missense_Mutation_p.R176C|ATP8B4_ENST00000558959.1_5'UTR	p.R176C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	9	667	-		all_lung(180;0.00183)	176					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.526C>T	CCDS32238.1	10	0.004578754578754579	0	0.0	1	0.0027624309392265192	9	0.015734265734265736	0	0.0	G	17.36	3.371134	0.61624	4.55E-4	0.0	ENSG00000104043	ENST00000284509	D	0.91237	-2.81	4.69	3.78	0.43462	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	H	0.98370	4.215	0.58432	D	0.999996	D	0.89917	1.0	D	0.77004	0.989	D	0.93357	0.6723	10	0.87932	D	0	.	10.8954	0.47019	0.0925:0.0:0.9075:0.0	.	176	Q8TF62	AT8B4_HUMAN	C	176	ENSP00000284509:R176C	ENSP00000284509:R176C	R	-	1	0	ATP8B4	48076229	0.989000	0.36119	0.871000	0.34182	0.994000	0.84299	3.174000	0.50847	1.332000	0.45431	0.655000	0.94253	CGC		0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		22	44	0	0	0	0.639603	0	22	44				
CSPG4	1464	broad.mit.edu	37	15	75981730	75981730	+	Missense_Mutation	SNP	T	T	C	rs534322472	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:75981730T>C	ENST00000308508.5	-	3	1768	c.1676A>G	c.(1675-1677)cAt>cGt	p.H559R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	559	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGGCTGCCATGTGGGAAGAT	0.612													T|||	2	0.000399361	0.0015	0.0	5008	,	,		20760	0.0		0.0	False		,,,				2504	0.0					ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1675-1677)cAt>cGt		chondroitin sulfate proteoglycan 4							31.0	31.0	31.0					15																	75981730		2196	4290	6486	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981730T>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1676A>G	15.37:g.75981730T>C	ENSP00000312506:p.His559Arg						p.H559R	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1768	-			559			Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1676A>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	1.331	-0.596850	0.03771	.	.	ENSG00000173546	ENST00000308508	T	0.18174	2.23	4.93	4.93	0.64822	.	0.440684	0.21864	N	0.067993	T	0.14570	0.0352	M	0.62723	1.935	0.09310	N	1	P	0.36616	0.561	B	0.27380	0.079	T	0.18681	-1.0329	10	0.17832	T	0.49	.	9.9455	0.41607	0.0:0.0831:0.0:0.9169	.	559	Q6UVK1	CSPG4_HUMAN	R	559	ENSP00000312506:H559R	ENSP00000312506:H559R	H	-	2	0	CSPG4	73768785	0.704000	0.27836	0.266000	0.24541	0.247000	0.25773	1.427000	0.34881	1.840000	0.53500	0.454000	0.30748	CAT		0.612	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	56	0	0	0	0.150653	0	3	56				
CACUL1	143384	broad.mit.edu	37	10	120489879	120489879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:120489879C>T	ENST00000369151.3	-	2	894	c.411G>A	c.(409-411)tgG>tgA	p.W137*	CACUL1_ENST00000340214.4_Nonsense_Mutation_p.W137*	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	137					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										CCAATTTTGGCCAGTATGTGC	0.323																																						ENST00000369151.3																			0											c.(409-411)tgG>tgA		CDK2-associated, cullin domain 1							105.0	101.0	103.0					10																	120489879		1830	4088	5918	SO:0001587	stop_gained	143384							g.chr10:120489879C>T	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.411G>A	10.37:g.120489879C>T	ENSP00000358147:p.Trp137*					CACUL1_ENST00000340214.4_Nonsense_Mutation_p.W137*	p.W137*	NM_153810.4	NP_722517.3					2	894	-								Q5XPL7|Q8IY11|Q8N7S4	Nonsense_Mutation	SNP	ENST00000369151.3	37	c.411G>A	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	C	43	10.063732	0.99329	.	.	ENSG00000151893	ENST00000369156;ENST00000369151;ENST00000340214	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6483	20.0589	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	14;137;137	.	ENSP00000342487:W137X	W	-	3	0	C10orf46	120479869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.482000	0.73613	2.732000	0.93576	0.650000	0.86243	TGG		0.323	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		3	63	0	0	0	0.115264	0	3	63				
EDNRA	1909	broad.mit.edu	37	4	148407184	148407184	+	Silent	SNP	G	G	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:148407184G>T	ENST00000324300.5	+	2	866	c.351G>T	c.(349-351)gcG>gcT	p.A117A	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000506066.1_Silent_p.A117A|EDNRA_ENST00000339690.5_Silent_p.A117A|EDNRA_ENST00000358556.4_Silent_p.A117A	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	117					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCCCCAACGCGCTGATAGCCA	0.423																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(349-351)gcG>gcT		endothelin receptor type A	Bosentan(DB00559)						115.0	107.0	109.0					4																	148407184		2203	4300	6503	SO:0001819	synonymous_variant	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148407184G>T	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.351G>T	4.37:g.148407184G>T						EDNRA_ENST00000506066.1_Silent_p.A117A|EDNRA_ENST00000358556.4_Silent_p.A117A|EDNRA_ENST00000339690.5_Silent_p.A117A|EDNRA_ENST00000511804.1_Intron	p.A117A	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	2	866	+	all_hematologic(180;0.151)		117					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	c.351G>T	CCDS3769.1																																																																																				0.423	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			70	91	1	0	2.08929e-35	0.870114	2.40511e-35	70	91				
SVEP1	79987	broad.mit.edu	37	9	113217968	113217968	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:113217968G>C	ENST00000401783.2	-	22	4025	c.3689C>G	c.(3688-3690)aCa>aGa	p.T1230R	SVEP1_ENST00000302728.8_Missense_Mutation_p.T1230R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T1207R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1230					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCGATGTCTGTTTCACACTT	0.418																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(3688-3690)aCa>aGa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							62.0	58.0	60.0					9																	113217968		1914	4130	6044	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113217968G>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3689C>G	9.37:g.113217968G>C	ENSP00000384917:p.Thr1230Arg					SVEP1_ENST00000302728.8_Missense_Mutation_p.T1230R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T1207R	p.T1230R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			22	4025	-			1230					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3689C>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426213	0.25726	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.91740	-2.9;-2.9;-2.9	5.79	0.0242	0.14140	.	0.516494	0.22162	N	0.063778	D	0.85969	0.5821	L	0.58101	1.795	0.09310	N	1	B;B	0.24823	0.112;0.024	B;B	0.19148	0.024;0.021	T	0.69431	-0.5147	10	0.14656	T	0.56	.	7.041	0.25021	0.2615:0.0:0.5208:0.2177	.	1230;1230	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	R	1230;1207;1230	ENSP00000384917:T1230R;ENSP00000363593:T1207R;ENSP00000304118:T1230R	ENSP00000304118:T1230R	T	-	2	0	SVEP1	112257789	0.000000	0.05858	0.295000	0.24960	0.761000	0.43186	-0.026000	0.12392	-0.209000	0.10156	0.591000	0.81541	ACA		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	33	0	0	0	0.608945	0	20	33				
TRPC7	57113	broad.mit.edu	37	5	135610458	135610458	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:135610458C>T	ENST00000513104.1	-	4	1313	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Missense_Mutation_p.R283H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	344					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R344H(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACTGTTGACGTAAGCCTGA	0.438																																						ENST00000513104.1																			2	Substitution - Missense(2)	p.R344H(2)	endometrium(2)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1030-1032)cGt>cAt		transient receptor potential cation channel, subfamily C, member 7							70.0	68.0	68.0					5																	135610458		1930	4145	6075	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135610458C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1031G>A	5.37:g.135610458C>T	ENSP00000426070:p.Arg344His					TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Missense_Mutation_p.R283H	p.R344H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1313	-			344					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1031G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918388	0.92249	.	.	ENSG00000069018	ENST00000355180;ENST00000513104;ENST00000265193	T;T	0.74106	-0.81;-0.81	5.55	5.55	0.83447	.	0.108809	0.64402	D	0.000010	D	0.84674	0.5524	M	0.93763	3.455	0.80722	D	1	P;P	0.39551	0.678;0.552	B;B	0.42653	0.394;0.22	D	0.87864	0.2666	10	0.87932	D	0	-6.3634	19.6982	0.96039	0.0:1.0:0.0:0.0	.	283;344	F5H5U9;Q9HCX4	.;TRPC7_HUMAN	H	283;344;344	ENSP00000347312:R283H;ENSP00000426070:R344H	ENSP00000265193:R344H	R	-	2	0	TRPC7	135638357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.894000	0.99253	0.655000	0.94253	CGT		0.438	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		9	20	0	0	0	0.307466	0	9	20				
LY9	4063	broad.mit.edu	37	1	160783596	160783596	+	Missense_Mutation	SNP	G	G	A	rs202197584		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:160783596G>A	ENST00000263285.6	+	3	655	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	LY9_ENST00000368037.5_Missense_Mutation_p.V209I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.V169I|LY9_ENST00000392203.4_Missense_Mutation_p.V209I|LY9_ENST00000341032.4_Missense_Mutation_p.V209I			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	209	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTCTTACCGTCTCCCGAAC	0.562													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17562	0.0		0.0	False		,,,				2504	0.0					ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(625-627)Gtc>Atc		lymphocyte antigen 9		A	ILE/VAL	0,4406		0,0,2203	174.0	165.0	168.0		625	1.2	0.0	1		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	LY9	NM_002348.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	209/656	160783596	1,13005	2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160783596G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.625G>A	1.37:g.160783596G>A	ENSP00000263285:p.Val209Ile					LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.V169I|LY9_ENST00000341032.4_Missense_Mutation_p.V209I	p.V209I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	655	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		209			Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.625G>A	CCDS30916.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.006	-2.089889	0.00367	0.0	1.16E-4	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.02525	4.26;4.26	4.12	1.21	0.21127	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.240168	0.31507	N	0.007533	T	0.00241	0.0007	N	0.01424	-0.875	0.23823	N	0.996744	B;B;B;B;B;B	0.23316	0.003;0.003;0.001;0.083;0.003;0.003	B;B;B;B;B;B	0.17433	0.007;0.007;0.0;0.018;0.006;0.007	T	0.33137	-0.9880	10	0.02654	T	1	-9.007	3.6651	0.08253	0.5142:0.1943:0.2915:0.0	.	209;169;169;209;209;209	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	I	209;209;209;209;169;169;111	ENSP00000342921:V209I;ENSP00000263285:V209I	ENSP00000263285:V209I	V	+	1	0	LY9	159050220	0.002000	0.14202	0.006000	0.13384	0.032000	0.12392	-0.507000	0.06352	-0.176000	0.10707	-0.381000	0.06696	GTC		0.562	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		8	273	0	0	0	0.278610	0	8	273				
TENM1	10178	broad.mit.edu	37	X	123654451	123654451	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:123654451C>T	ENST00000371130.3	-	18	3280	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	TENM1_ENST00000422452.2_Missense_Mutation_p.A1073T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1073					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A1075S(1)									TTAATTGCGGCGGGAAACCAC	0.473																																						ENST00000422452.2																			1	Substitution - Missense(1)	p.A1075S(1)	lung(1)								c.(3217-3219)Gcc>Acc		teneurin transmembrane protein 1							123.0	109.0	114.0					X																	123654451		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123654451C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3217G>A	X.37:g.123654451C>T	ENSP00000360171:p.Ala1073Thr					TENM1_ENST00000371130.3_Missense_Mutation_p.A1073T	p.A1073T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					18	3280	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3217G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211626	0.79240	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90900	-2.75;-2.71	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.965;0.988	D	0.96239	0.9174	10	0.87932	D	0	.	18.272	0.90071	0.0:1.0:0.0:0.0	.	1072;1073;1073	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	1073	ENSP00000360171:A1073T;ENSP00000403954:A1073T	ENSP00000360171:A1073T	A	-	1	0	ODZ1	123482132	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.253000	0.74438	0.600000	0.82982	GCC		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		111	24	0	0	0	0.870114	0	111	24				
LRRC8E	80131	broad.mit.edu	37	19	7965572	7965572	+	Missense_Mutation	SNP	G	G	A	rs190239641	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:7965572G>A	ENST00000306708.6	+	3	2266	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	AC010336.1_ENST00000539278.1_5'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	722					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TTCTTCTGCCGCAAGCTGCGG	0.657													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17805	0.0		0.001	False		,,,				2504	0.0					ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(2164-2166)cGc>cAc		leucine rich repeat containing 8 family, member E							65.0	55.0	58.0					19																	7965572		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7965572G>A		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2165G>A	19.37:g.7965572G>A	ENSP00000306524:p.Arg722His					AC010336.1_ENST00000539278.1_5'UTR	p.R722H	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	2266	+			722					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.2165G>A	CCDS12189.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	7.848	0.723462	0.15439	.	.	ENSG00000171017	ENST00000306708	T	0.10382	2.88	4.35	2.07	0.26955	.	0.307696	0.29444	N	0.012138	T	0.06826	0.0174	L	0.31578	0.945	0.24912	N	0.992033	B	0.13594	0.008	B	0.10450	0.005	T	0.24693	-1.0153	10	0.40728	T	0.16	.	4.6497	0.12589	0.3968:0.0:0.6032:0.0	.	722	Q6NSJ5	LRC8E_HUMAN	H	722	ENSP00000306524:R722H	ENSP00000306524:R722H	R	+	2	0	LRRC8E	7871572	0.992000	0.36948	0.479000	0.27329	0.045000	0.14185	2.928000	0.48908	1.028000	0.39785	0.585000	0.79938	CGC		0.657	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		4	181	0	0	0	0.150653	0	4	181				
LAMA1	284217	broad.mit.edu	37	18	6961754	6961754	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr18:6961754A>G	ENST00000389658.3	-	53	7550	c.7457T>C	c.(7456-7458)aTc>aCc	p.I2486T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2486	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AACACTCCGGATGGGCTGGAC	0.517																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(7456-7458)aTc>aCc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						54.0	50.0	51.0					18																	6961754		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6961754A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7457T>C	18.37:g.6961754A>G	ENSP00000374309:p.Ile2486Thr						p.I2486T	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			53	7550	-		Colorectal(10;0.172)	2486			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7457T>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943034	0.53079	.	.	ENSG00000101680	ENST00000389658	T	0.18174	2.23	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.420645	0.25590	N	0.029623	T	0.23965	0.0580	M	0.67953	2.075	0.45087	D	0.998105	P	0.48911	0.917	B	0.41813	0.367	T	0.02512	-1.1148	10	0.52906	T	0.07	.	16.0663	0.80878	1.0:0.0:0.0:0.0	.	2486	P25391	LAMA1_HUMAN	T	2486	ENSP00000374309:I2486T	ENSP00000374309:I2486T	I	-	2	0	LAMA1	6951754	1.000000	0.71417	0.992000	0.48379	0.543000	0.35085	7.513000	0.81739	2.201000	0.70794	0.533000	0.62120	ATC		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		14	27	0	0	0	0.457914	0	14	27				
PCSK2	5126	broad.mit.edu	37	20	17410117	17410117	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:17410117G>A	ENST00000262545.2	+	7	973	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	PCSK2_ENST00000377899.1_Missense_Mutation_p.A201T|PCSK2_ENST00000536609.1_Missense_Mutation_p.A185T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	220	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCTGCTGCCGCCAACAACAA	0.473																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(658-660)Gcc>Acc		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						122.0	123.0	123.0					20																	17410117		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17410117G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.658G>A	20.37:g.17410117G>A	ENSP00000262545:p.Ala220Thr					PCSK2_ENST00000536609.1_Missense_Mutation_p.A185T|PCSK2_ENST00000377899.1_Missense_Mutation_p.A201T	p.A220T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			7	973	+			220			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.658G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921424	0.92249	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87412	-2.25;-2.25;-2.25	5.69	5.69	0.88448	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.094798	0.64402	D	0.000001	D	0.89588	0.6758	L	0.38531	1.155	0.80722	D	1	P;D	0.65815	0.871;0.995	B;P	0.60345	0.322;0.873	D	0.90012	0.4122	10	0.59425	D	0.04	-32.2822	18.3768	0.90438	0.0:0.0:1.0:0.0	.	185;220	B4DFQ3;P16519	.;NEC2_HUMAN	T	201;220;185	ENSP00000367131:A201T;ENSP00000262545:A220T;ENSP00000437458:A185T	ENSP00000262545:A220T	A	+	1	0	PCSK2	17358117	1.000000	0.71417	0.959000	0.39883	0.910000	0.53928	6.261000	0.72509	2.683000	0.91414	0.591000	0.81541	GCC		0.473	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		105	267	0	0	0	0.870114	0	105	267				
PKHD1	5314	broad.mit.edu	37	6	51892973	51892973	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51892973C>A	ENST00000371117.3	-	30	3816	c.3541G>T	c.(3541-3543)Gtc>Ttc	p.V1181F	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1181F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1181	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAATGCTGACCCCATTGATA	0.498																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3541-3543)Gtc>Ttc		polycystic kidney and hepatic disease 1 (autosomal recessive)							143.0	157.0	152.0					6																	51892973		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51892973C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3541G>T	6.37:g.51892973C>A	ENSP00000360158:p.Val1181Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.V1181F	p.V1181F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			30	3816	-	Lung NSC(77;0.0605)		1181			IPT/TIG 6; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3541G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041253	0.19669	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87809	-2.1;-2.3	5.7	-6.15	0.02105	Cell surface receptor IPT/TIG (1);	1.145350	0.06287	N	0.698540	T	0.63908	0.2551	L	0.50333	1.59	0.09310	N	1	P;P	0.46912	0.886;0.779	P;B	0.46275	0.51;0.178	T	0.61992	-0.6948	10	0.05959	T	0.93	.	6.3288	0.21259	0.0823:0.3008:0.087:0.5299	.	1181;1181	P08F94-2;P08F94	.;PKHD1_HUMAN	F	1181	ENSP00000360158:V1181F;ENSP00000341097:V1181F	ENSP00000341097:V1181F	V	-	1	0	PKHD1	52000932	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-2.251000	0.01186	-2.124000	0.00822	-0.797000	0.03246	GTC		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		124	212	1	0	8.80896e-55	0.870114	1.0382e-54	124	212				
OR13C5	138799	broad.mit.edu	37	9	107361264	107361264	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107361264A>C	ENST00000374779.2	-	1	524	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCCAGCTGCCATGGGTACATA	0.473																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(430-432)aTg>aGg		olfactory receptor, family 13, subfamily C, member 5							102.0	102.0	102.0					9																	107361264		2203	4298	6501	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361264A>C		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.431T>G	9.37:g.107361264A>C	ENSP00000363911:p.Met144Arg						p.M144R	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	524	-			144					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.431T>G	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610983	0.46631	.	.	ENSG00000255800	ENST00000374779	T	0.39056	1.1	4.17	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	U	0.000405	T	0.66799	0.2826	M	0.92604	3.325	0.09310	N	1	D	0.67145	0.996	D	0.71184	0.972	T	0.59873	-0.7372	10	0.87932	D	0	.	7.5593	0.27843	0.8952:0.0:0.1048:0.0	.	144	Q8NGS8	O13C5_HUMAN	R	144	ENSP00000363911:M144R	ENSP00000363911:M144R	M	-	2	0	OR13C5	106401085	0.172000	0.23043	0.046000	0.18839	0.178000	0.23041	4.303000	0.59098	0.671000	0.31185	0.433000	0.28618	ATG		0.473	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		21	291	0	0	0	0.681144	0	21	291				
CLEC14A	161198	broad.mit.edu	37	14	38723809	38723809	+	Missense_Mutation	SNP	G	G	T	rs146958080		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:38723809G>T	ENST00000342213.2	-	1	1765	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	473						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCTCTGCTCTGTCCCGCAGAT	0.572																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1417-1419)gaC>gaA		C-type lectin domain family 14, member A							75.0	77.0	76.0					14																	38723809		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38723809G>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1419C>A	14.37:g.38723809G>T	ENSP00000353013:p.Asp473Glu						p.D473E	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1765	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		473					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1419C>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015889	0.54468	.	.	ENSG00000176435	ENST00000342213	T	0.73575	-0.76	4.86	3.94	0.45596	.	0.936787	0.08677	N	0.910025	T	0.63663	0.2530	N	0.24115	0.695	0.24090	N	0.995917	B	0.26708	0.157	B	0.25759	0.063	T	0.56998	-0.7886	10	0.87932	D	0	-1.6404	10.8857	0.46965	0.0:0.0:0.8112:0.1887	.	473	Q86T13	CLC14_HUMAN	E	473	ENSP00000353013:D473E	ENSP00000353013:D473E	D	-	3	2	CLEC14A	37793560	0.120000	0.22244	0.930000	0.37139	0.161000	0.22273	3.465000	0.53064	1.323000	0.45263	0.563000	0.77884	GAC		0.572	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		5	240	1	0	0.217242	0.217242	0.228798	5	240				
NUP160	23279	broad.mit.edu	37	11	47809761	47809761	+	Missense_Mutation	SNP	G	G	A	rs535059681		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:47809761G>A	ENST00000378460.2	-	31	3765	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	NUP160_ENST00000530326.1_Missense_Mutation_p.T1126M	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1240					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.T1240M(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAAGACTGGCGTTAAGGGAAG	0.398																																						ENST00000378460.2																			1	Substitution - Missense(1)	p.T1240M(1)	large_intestine(1)	NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(3718-3720)aCg>aTg		nucleoporin 160kDa							56.0	53.0	54.0					11																	47809761		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47809761G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3719C>T	11.37:g.47809761G>A	ENSP00000367721:p.Thr1240Met					NUP160_ENST00000530326.1_Missense_Mutation_p.T1126M	p.T1240M	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			31	3765	-			1240					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.3719C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515723	0.64634	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.49432	1.37;0.78	5.78	3.87	0.44632	.	0.159743	0.56097	D	0.000039	T	0.53706	0.1813	L	0.55481	1.735	0.32310	N	0.563912	D	0.71674	0.998	P	0.56216	0.794	T	0.63462	-0.6632	10	0.49607	T	0.09	.	9.5399	0.39246	0.0666:0.0:0.6803:0.253	.	1240	Q12769	NU160_HUMAN	M	1240;1126	ENSP00000367721:T1240M;ENSP00000433590:T1126M	ENSP00000367721:T1240M	T	-	2	0	NUP160	47766337	1.000000	0.71417	0.932000	0.37286	0.963000	0.63663	3.147000	0.50639	0.766000	0.33244	0.549000	0.68633	ACG		0.398	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		28	45	0	0	0	0.729181	0	28	45				
KPNA4	3840	broad.mit.edu	37	3	160239655	160239655	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:160239655G>A	ENST00000334256.4	-	11	1120	c.815C>T	c.(814-816)gCt>gTt	p.A272V		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	272					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTCATTGCCAGCATCAGTAAG	0.353																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(814-816)gCt>gTt		karyopherin alpha 4 (importin alpha 3)							96.0	96.0	96.0					3																	160239655		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160239655G>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.815C>T	3.37:g.160239655G>A	ENSP00000334373:p.Ala272Val						p.A272V	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		11	1120	-			272					A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.815C>T	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942958	0.73672	.	.	ENSG00000186432	ENST00000334256	T	0.28454	1.61	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	N	0.16656	0.425	0.80722	D	1	B	0.26120	0.142	B	0.25759	0.063	T	0.07635	-1.0762	10	0.72032	D	0.01	-5.4149	19.144	0.93457	0.0:0.0:1.0:0.0	.	272	O00629	IMA4_HUMAN	V	272	ENSP00000334373:A272V	ENSP00000334373:A272V	A	-	2	0	KPNA4	161722349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.745000	0.94114	0.655000	0.94253	GCT		0.353	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		4	243	0	0	0	0.150653	0	4	243				
SRRM2	23524	broad.mit.edu	37	16	2817587	2817587	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:2817587C>T	ENST00000301740.8	+	11	7607	c.7058C>T	c.(7057-7059)gCc>gTc	p.A2353V	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2353	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTGAATATTGCCGGCTCCAGA	0.627																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7057-7059)gCc>gTc		serine/arginine repetitive matrix 2							97.0	102.0	101.0					16																	2817587		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817587C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7058C>T	16.37:g.2817587C>T	ENSP00000301740:p.Ala2353Val					SRRM2_ENST00000574593.1_3'UTR	p.A2353V	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7607	+			2353			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7058C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187072	0.38609	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78595	-1.19	5.77	4.81	0.61882	.	0.092240	0.47852	D	0.000218	T	0.67739	0.2925	N	0.17082	0.46	0.32131	N	0.586702	P	0.38395	0.629	B	0.42282	0.382	T	0.75202	-0.3401	10	0.52906	T	0.07	-6.4687	12.9496	0.58391	0.0:0.8379:0.1621:0.0	.	2353	Q9UQ35	SRRM2_HUMAN	V	2353;1605	ENSP00000301740:A2353V	ENSP00000301740:A2353V	A	+	2	0	SRRM2	2757588	0.960000	0.32886	1.000000	0.80357	0.911000	0.54048	1.106000	0.31098	1.424000	0.47217	0.655000	0.94253	GCC		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	185	0	0	0	0.150653	0	4	185				
IGHA1	3493	broad.mit.edu	37	14	106173520	106173520	+	RNA	SNP	G	G	A	rs1130897	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:106173520G>A	ENST00000390547.2	-	0	1046				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AGCAGGTGCCGTCCACCTCCG	0.637													.|||	55	0.0109824	0.0401	0.0029	5008	,	,		18572	0.0		0.0	False		,,,				2504	0.0					ENST00000390547.2																			0																				25.0	44.0	38.0					14																	106173520		2083	4252	6335			0							g.chr14:106173520G>A	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173520G>A														0	1046	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.637	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		6	15	0	0	0	0.248553	0	6	15				
KRT28	162605	broad.mit.edu	37	17	38955859	38955859	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:38955859C>T	ENST00000306658.7	-	1	352	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGATGCCAAGCGGTCATTAAG	0.478																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(286-288)cGc>cAc		keratin 28							110.0	110.0	110.0					17																	38955859		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38955859C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.287G>A	17.37:g.38955859C>T	ENSP00000305263:p.Arg96His						p.R96H	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			1	352	-		Breast(137;0.000301)	96			Coil 1A.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.287G>A	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959321	0.92726	.	.	ENSG00000173908	ENST00000306658	D	0.94046	-3.34	5.34	5.34	0.76211	Filament (1);	0.000000	0.64402	D	0.000014	D	0.97269	0.9107	M	0.88450	2.955	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97820	1.0256	10	0.87932	D	0	.	18.382	0.90454	0.0:1.0:0.0:0.0	.	96	Q7Z3Y7	K1C28_HUMAN	H	96	ENSP00000305263:R96H	ENSP00000305263:R96H	R	-	2	0	KRT28	36209385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.485000	0.81204	2.668000	0.90789	0.650000	0.86243	CGC		0.478	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		6	175	0	0	0	0.217242	0	6	175				
PITX2	5308	broad.mit.edu	37	4	111539762	111539762	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:111539762G>A	ENST00000354925.2	-	7	2178	c.473C>T	c.(472-474)cCg>cTg	p.P158L	PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394595.3_Silent_p.A89A|PITX2_ENST00000355080.5_Missense_Mutation_p.P112L|PITX2_ENST00000394598.2_Missense_Mutation_p.P158L|PITX2_ENST00000306732.3_Missense_Mutation_p.P165L	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	158					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTGAACTGCGGCCCGAAGCC	0.592																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(472-474)cCg>cTg		paired-like homeodomain 2							82.0	77.0	79.0					4																	111539762		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539762G>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.473C>T	4.37:g.111539762G>A	ENSP00000347004:p.Pro158Leu					PITX2_ENST00000394598.2_Missense_Mutation_p.P158L|PITX2_ENST00000394595.3_Silent_p.A89A|PITX2_ENST00000355080.5_Missense_Mutation_p.P112L|PITX2_ENST00000306732.3_Missense_Mutation_p.P165L|PITX2_ENST00000556049.1_5'UTR	p.P158L	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2178	-		Hepatocellular(203;0.217)	158					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.473C>T	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266682	0.80358	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049;ENST00000511990	D;D;D;D;D;T;D	0.94376	-3.05;-3.17;-3.31;-3.17;-3.41;-0.84;-2.98	4.89	4.89	0.63831	.	0.102432	0.64402	D	0.000002	D	0.94663	0.8279	M	0.78049	2.395	0.80722	D	1	P;D;D;D	0.61080	0.947;0.989;0.98;0.967	B;P;B;B	0.49922	0.368;0.626;0.371;0.388	D	0.93578	0.6910	10	0.32370	T	0.25	.	18.6339	0.91370	0.0:0.0:1.0:0.0	.	112;112;158;165	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	L	165;158;112;158;158;82;112	ENSP00000304169:P165L;ENSP00000378097:P158L;ENSP00000347192:P112L;ENSP00000347004:P158L;ENSP00000421454:P158L;ENSP00000450938:P82L;ENSP00000424142:P112L	ENSP00000304169:P165L	P	-	2	0	PITX2	111759211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.712000	0.92718	0.563000	0.77884	CCG		0.592	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			4	102	0	0	0	0.150653	0	4	102				
OR13C2	392376	broad.mit.edu	37	9	107367478	107367478	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107367478A>C	ENST00000542196.1	-	1	473	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCCAGCTGCCATGGGTACATA	0.468																																						ENST00000542196.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(430-432)aTg>aGg		olfactory receptor, family 13, subfamily C, member 2							74.0	95.0	88.0					9																	107367478		2203	4298	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367478A>C		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.431T>G	9.37:g.107367478A>C	ENSP00000438815:p.Met144Arg						p.M144R	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	473	-			144					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.431T>G	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.673123	0.29693	.	.	ENSG00000257019	ENST00000542196	T	0.39056	1.1	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	U	0.000430	T	0.66499	0.2795	M	0.89534	3.04	0.09310	N	0.999995	D	0.67145	0.996	D	0.71184	0.972	T	0.60296	-0.7291	10	0.87932	D	0	.	10.0804	0.42386	1.0:0.0:0.0:0.0	.	144	Q8NGS9	O13C2_HUMAN	R	144	ENSP00000438815:M144R	ENSP00000438815:M144R	M	-	2	0	OR13C2	106407299	0.907000	0.30839	0.714000	0.30535	0.385000	0.30292	4.685000	0.61693	1.475000	0.48197	0.379000	0.24179	ATG		0.468	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		32	99	0	0	0	0.847076	0	32	99				
ATP2B2	491	broad.mit.edu	37	3	10452378	10452378	+	Silent	SNP	C	C	T	rs376027431		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:10452378C>T	ENST00000352432.4	-	2	390	c.321G>A	c.(319-321)acG>acA	p.T107T	ATP2B2_ENST00000397077.1_Silent_p.T107T|ATP2B2_ENST00000360273.2_Silent_p.T107T|ATP2B2_ENST00000343816.4_Silent_p.T107T|ATP2B2_ENST00000383800.4_Silent_p.T107T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	107					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATGAGCGTCACGTCCT	0.552																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(319-321)acG>acA		ATPase, Ca++ transporting, plasma membrane 2		C	,	0,4406		0,0,2203	186.0	199.0	195.0		321,321	-5.8	0.9	3		195	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP2B2	NM_001001331.2,NM_001683.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	107/1244,107/1199	10452378	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452378C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.321G>A	3.37:g.10452378C>T						ATP2B2_ENST00000343816.4_Silent_p.T107T|ATP2B2_ENST00000383800.4_Silent_p.T107T|ATP2B2_ENST00000360273.2_Silent_p.T107T|ATP2B2_ENST00000352432.4_Silent_p.T107T	p.T107T			Q01814	AT2B2_HUMAN			5	896	-			107					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.321G>A	CCDS33701.1																																																																																				0.552	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		8	355	0	0	0	0.278610	0	8	355				
KRT17P2	339241	broad.mit.edu	37	17	18333005	18333005	+	RNA	SNP	C	C	T	rs537927575		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:18333005C>T	ENST00000326333.8	+	0	827				KRT16P1_ENST00000581027.1_RNA					keratin 17 pseudogene 2																		AGGAGATGAACGCCCCGCGAG	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		13009	0.0		0.001	False		,,,				2504	0.0					ENST00000580052.1																			0																																																			0							g.chr17:18333005C>T			17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18333005C>T						KRT17P2_ENST00000326333.8_RNA								0	43	+									RNA	SNP	ENST00000326333.8	37																																																																																						0.607	KRT17P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446573.1	NG_002778		8	3	0	0	0	0.387290	0	8	3				
ATP10B	23120	broad.mit.edu	37	5	160025790	160025790	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:160025790C>A	ENST00000327245.5	-	22	4397	c.3551G>T	c.(3550-3552)gGc>gTc	p.G1184V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1184					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)			AGAGTTCTGGCCACTCTTGTA	0.502																																						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.(3550-3552)gGc>gTc		ATPase, class V, type 10B							264.0	252.0	256.0					5																	160025790		1947	4133	6080	SO:0001583	missense	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.chr5:160025790C>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.3551G>T	5.37:g.160025790C>A	ENSP00000313600:p.Gly1184Val						p.G1184V	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		22	4397	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1184					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.3551G>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011858	0.75046	.	.	ENSG00000118322	ENST00000327245	T	0.75050	-0.9	5.53	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91413	0.5152	9	.	.	.	.	13.3175	0.60415	0.0:0.9246:0.0:0.0754	.	1184	O94823	AT10B_HUMAN	V	1184	ENSP00000313600:G1184V	.	G	-	2	0	ATP10B	159958368	1.000000	0.71417	0.990000	0.47175	0.898000	0.52572	5.939000	0.70179	1.341000	0.45600	0.655000	0.94253	GGC		0.502	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		193	275	1	0	8.57144e-96	0.870114	1.03484e-95	193	275				
SIPA1L1	26037	broad.mit.edu	37	14	72138006	72138006	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:72138006G>A	ENST00000555818.1	+	8	2774	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R284H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R809H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R809H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	809	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)		ACTCGGACCCGCCAGGAATAC	0.473																																						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.(2425-2427)cGc>cAc		signal-induced proliferation-associated 1 like 1							87.0	86.0	86.0					14																	72138006		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.chr14:72138006G>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.2426G>A	14.37:g.72138006G>A	ENSP00000450832:p.Arg809His					SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R284H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R809H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R809H	p.R809H	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	2774	+			809			Rap-GAP.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2426G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694304	0.88830	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	6.05	6.05	0.98169	Rap/ran-GAP (2);	0.045412	0.85682	D	0.000000	D	0.98563	0.9520	H	0.97051	3.93	0.80722	D	1	P;B;D;P;B	0.60160	0.73;0.237;0.987;0.835;0.056	B;B;P;B;B	0.54401	0.329;0.117;0.751;0.401;0.027	D	0.98858	1.0761	10	0.62326	D	0.03	-23.9335	13.7549	0.62930	0.0698:0.0:0.9302:0.0	.	284;809;284;809;809	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	809;809;809;284	ENSP00000370630:R809H;ENSP00000450832:R809H;ENSP00000351352:R809H;ENSP00000440682:R284H	ENSP00000351352:R809H	R	+	2	0	SIPA1L1	71207759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.029000	0.88807	2.878000	0.98634	0.650000	0.86243	CGC		0.473	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		29	49	0	0	0	0.750413	0	29	49				
COL6A3	1293	broad.mit.edu	37	2	238249727	238249727	+	Missense_Mutation	SNP	G	G	A	rs114806654		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:238249727G>A	ENST00000295550.4	-	38	8284	c.7832C>T	c.(7831-7833)gCg>gTg	p.A2611V	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2411V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2410V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2405V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2004V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2405V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2611	Nonhelical region.				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)	p.A2611E(1)		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)		GCTCCCTGCCGCTCTCCTGTC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19818	0.0		0.0	False		,,,				2504	0.0					ENST00000295550.4																			1	Substitution - Missense(1)	p.A2611E(1)	lung(1)	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.(7831-7833)gCg>gTg		collagen, type VI, alpha 3							149.0	150.0	150.0					2																	238249727		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.chr2:238249727G>A	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.7832C>T	2.37:g.238249727G>A	ENSP00000295550:p.Ala2611Val					COL6A3_ENST00000347401.3_Missense_Mutation_p.A2410V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2405V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2411V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2405V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2004V	p.A2611V	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)	38	8284	-		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)	2611			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7832C>T	CCDS33412.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.79	1.743029	0.30865	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88664	-2.41;-2.37;-2.37;-2.37;-2.37;-2.37	5.05	5.05	0.67936	.	0.123875	0.36034	N	0.002826	D	0.90120	0.6913	N	0.19112	0.55	0.35101	D	0.765203	D;D;D	0.89917	0.957;0.975;1.0	B;P;D	0.72982	0.41;0.614;0.979	D	0.92155	0.5731	10	0.39692	T	0.17	.	18.7716	0.91894	0.0:0.0:1.0:0.0	.	2004;2405;2611	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	2611;2410;2405;2004;2405;2411	ENSP00000295550:A2611V;ENSP00000315609:A2410V;ENSP00000315873:A2405V;ENSP00000418285:A2004V;ENSP00000386844:A2405V;ENSP00000295546:A2411V	ENSP00000295550:A2611V	A	-	2	0	COL6A3	237914466	1.000000	0.71417	0.573000	0.28510	0.487000	0.33371	6.565000	0.73974	2.478000	0.83669	0.655000	0.94253	GCG		0.512	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		76	118	0	0	0	0.870114	0	76	118				
CCM2L	140706	broad.mit.edu	37	20	30617623	30617623	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:30617623C>A	ENST00000300415.8	+	9	1397	c.1384C>A	c.(1384-1386)Cgc>Agc	p.R462S	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	462																	CGGAGACCGGCGCAAGTTCCT	0.632																																						ENST00000300415.8																			0											c.(1384-1386)Cgc>Agc		cerebral cavernous malformation 2-like							42.0	39.0	40.0					20																	30617623		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30617623C>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1384C>A	20.37:g.30617623C>A	ENSP00000300415:p.Arg462Ser					RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR	p.R462S							9	1397	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.1384C>A		.	.	.	.	.	.	.	.	.	.	C	22.7	4.329616	0.81690	.	.	ENSG00000101331	ENST00000300415;ENST00000452892	T;T	0.42513	0.97;0.97	5.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	.	.	.	0.42019	D	0.990973	D	0.89917	1.0	D	0.87578	0.998	T	0.68368	-0.5427	9	0.87932	D	0	-38.9871	13.0775	0.59095	0.2199:0.7801:0.0:0.0	.	462	Q9NUG4	CT160_HUMAN	S	462;215	ENSP00000300415:R462S;ENSP00000392448:R215S	ENSP00000300415:R462S	R	+	1	0	C20orf160	30081284	0.976000	0.34144	1.000000	0.80357	0.972000	0.66771	1.975000	0.40569	2.648000	0.89879	0.563000	0.77884	CGC		0.632	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		3	109	1	0	0.115264	0.115264	0.1227	3	109				
PTEN	5728	broad.mit.edu	37	10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	rs121913293		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:89711899C>T	ENST00000371953.3	+	6	1874	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		90	Whole gene deletion(37)|Substitution - Missense(32)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)	central_nervous_system(31)|endometrium(16)|prostate(16)|skin(9)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM074467	PTEN	M	rs121913293	c.(517-519)Cgc>Tgc		phosphatase and tensin homolog							126.0	130.0	129.0					10																	89711899		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711899C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.517C>T	10.37:g.89711899C>T	ENSP00000361021:p.Arg173Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R173C	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1874	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.517C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207402	0.95033	.	.	ENSG00000171862	ENST00000371953	D	0.98926	-5.24	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99468	0.9811	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.98423	1.0578	9	.	.	.	0.9169	19.9308	0.97118	0.0:1.0:0.0:0.0	.	173	P60484	PTEN_HUMAN	C	173	ENSP00000361021:R173C	.	R	+	1	0	PTEN	89701879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		73	51	0	0	0	0.870114	0	73	51				
RFX3	5991	broad.mit.edu	37	9	3270522	3270522	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:3270522A>T	ENST00000382004.3	-	12	1517	c.1206T>A	c.(1204-1206)aaT>aaA	p.N402K	RFX3_ENST00000302303.1_Missense_Mutation_p.N402K|RFX3_ENST00000358730.2_Missense_Mutation_p.N402K	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	402					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTCACTCAGATTGCTGGTGT	0.348																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1204-1206)aaT>aaA		regulatory factor X, 3 (influences HLA class II expression)							75.0	71.0	72.0					9																	3270522		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3270522A>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1206T>A	9.37:g.3270522A>T	ENSP00000371434:p.Asn402Lys					RFX3_ENST00000302303.1_Missense_Mutation_p.N402K|RFX3_ENST00000358730.2_Missense_Mutation_p.N402K	p.N402K	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	12	1517	-			402					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1206T>A	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089816	0.36855	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.56941	0.44;0.43;0.43	5.71	5.71	0.89125	.	0.089362	0.85682	D	0.000000	T	0.33556	0.0867	N	0.14661	0.345	0.58432	D	0.999995	B;B	0.28291	0.206;0.007	B;B	0.28011	0.085;0.01	T	0.20974	-1.0259	10	0.22109	T	0.4	-15.1956	10.3543	0.43954	0.9273:0.0:0.0727:0.0	.	402;402	P48380-2;P48380	.;RFX3_HUMAN	K	402	ENSP00000371434:N402K;ENSP00000351574:N402K;ENSP00000303847:N402K	ENSP00000303847:N402K	N	-	3	2	RFX3	3260522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.071000	0.57556	2.191000	0.70037	0.528000	0.53228	AAT		0.348	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		3	73	0	0	0	0.150653	0	3	73				
RP11-739N20.2	0	broad.mit.edu	37	1	204363980	204363980	+	RNA	DEL	A	A	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:204363980delA	ENST00000443515.1	+	0	146																											tttgtttttcaaaaaaaaaaa	0.308																																						ENST00000443515.1																			0																																																			0							g.chr1:204363980delA																													1.37:g.204363980delA														0	146	+									RNA	DEL	ENST00000443515.1	37																																																																																						0.308	RP11-739N20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000087972.1			12	138						12	138	---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32422896	32422896	+	Splice_Site	DEL	G	G	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:32422896delG	ENST00000282587.5	+	10	702		c.e10+1		SLC30A6_ENST00000538303.1_Splice_Site|SLC30A6_ENST00000379343.2_Splice_Site|SLC30A6_ENST00000435660.1_Splice_Site|SLC30A6_ENST00000357055.3_Splice_Site|SLC30A6_ENST00000406369.1_Splice_Site	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6						cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGAAATTAAGTGAGTATTTT	0.373																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e10+1		solute carrier family 30 (zinc transporter), member 6							98.0	92.0	94.0					2																	32422896		2203	4300	6503	SO:0001630	splice_region_variant	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32422896delG	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.665+1G>-	2.37:g.32422896delG						SLC30A6_ENST00000357055.3_Splice_Site|SLC30A6_ENST00000406369.1_Splice_Site|SLC30A6_ENST00000538303.1_Splice_Site|SLC30A6_ENST00000435660.1_Splice_Site|SLC30A6_ENST00000379343.2_Splice_Site		NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN			10	702	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)							A5YM45|B7Z901|Q8N5C9|Q96NC3	Splice_Site	DEL	ENST00000282587.5	37		CCDS1780.1																																																																																				0.373	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		Intron	47	92						47	92	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																						ENST00000309964.4																			2	Deletion - Frameshift(2)	p.L123fs*1(2)	ovary(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(367-369)tafs		clock circadian regulator							88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336954delA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs					CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		7	618	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	c.368delT	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	254						7	254	---	---	---	---
RP11-686D16.1	0	broad.mit.edu	37	6	19319481	19319482	+	lincRNA	DEL	TT	TT	-	rs200515542		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:19319481_19319482delTT	ENST00000443504.1	-	0	104																											ttctcttccctttctctttctt	0.475																																						ENST00000443504.1																			0																																																			0							g.chr6:19319481_19319482delTT																													6.37:g.19319481_19319482delTT														0	104	-									RNA	DEL	ENST00000443504.1	37																																																																																						0.475	RP11-686D16.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000039969.1			6	8						6	8	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100345611	100345611	+	RNA	DEL	A	A	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:100345611delA	ENST00000348028.3	+	0	1188				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			caagactctgaaaaaaaaaaa	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345611delA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345611delA						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1171	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48866909	48866910	+	Frame_Shift_Ins	INS	-	-	T	rs537061158	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:48866909_48866910insT	ENST00000314191.2	-	5	552_553	c.496_497insA	c.(496-498)atafs	p.I166fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.I166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTATCTGGTATTTTTTTTTTC	0.267								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(496-498)accfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide																																				SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48866909_48866910insT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.497dupA	8.37:g.48866919_48866919dupT	ENSP00000313420:p.Ile166fs					PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.T166fs|PRKDC_ENST00000523565.1_5'UTR	p.T166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			5	552_553	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	166					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	ENST00000314191.2	37	c.496_497insA																																																																																					0.267	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		2	4						2	4	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	CGCCCCCCG	-	rs556055601	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:13699134_13699142delCGCCCCCCG	ENST00000357447.2	-	22	2815_2823	c.2447_2455delCGGGGGGCG	c.(2446-2457)gcggggggcggt>ggt	p.AGG816del	FRMD4A_ENST00000358621.4_In_Frame_Del_p.AGG801del|FRMD4A_ENST00000378503.1_In_Frame_Del_p.AGG816del	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	816					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGTACACAccgccccccgcgccccccgc	0.761														136	0.0271565	0.0666	0.0187	5008	,	,		3762	0.0		0.0179	False		,,,				2504	0.0174					ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2446-2457)ggt>g		FERM domain containing 4A				204,2252		73,58,1097						4.8	0.9			8	213,4449		76,61,2194	no	coding	FRMD4A	NM_018027.3		149,119,3291	A1A1,A1R,RR		4.5689,8.3062,5.8584				417,6701				SO:0001651	inframe_deletion	55691					cytoplasm|cytoskeleton	binding	g.chr10:13699134_13699142delCGCCCCCCG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2447_2455delCGGGGGGCG	10.37:g.13699143_13699151delCGCCCCCCG	ENSP00000350032:p.Ala816_Gly818del					FRMD4A_ENST00000378503.1_In_Frame_Del_p.AGGG816del|FRMD4A_ENST00000358621.4_In_Frame_Del_p.AGGG801del	p.AGGG816del	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	2815_2823	-			816					A7E2Y3|Q5T377	In_Frame_Del	DEL	ENST00000357447.2	37	c.2447_2455delCGGGGGGCG	CCDS7101.1																																																																																				0.761	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		5	4						5	4	---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-	rs149062181		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616																																						ENST00000527881.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(13-15)del		tsukushi, small leucine rich proteoglycan																																				SO:0001651	inframe_deletion	25987					extracellular region		g.chr11:76506673_76506675delCTG	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.13_15delCTG	11.37:g.76506682_76506684delCTG	ENSP00000434847:p.Leu9del					TSKU_ENST00000333090.4_In_Frame_Del_p.L9del	p.L9del			Q8WUA8	TSK_HUMAN			2	1039_1041	+	Ovarian(111;0.112)		9					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	In_Frame_Del	DEL	ENST00000527881.1	37	c.13_15delCTG	CCDS8246.1																																																																																				0.616	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		7	98						7	98	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			6	1						6	1	---	---	---	---
RP11-847H18.2	0	broad.mit.edu	37	12	34190730	34190731	+	RNA	INS	-	-	TT	rs372080633|rs10844783		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:34190730_34190731insTT	ENST00000501954.2	-	0	325				RP11-847H18.3_ENST00000537655.1_lincRNA																							gtgtgtgtgtgtccgtgtgtgt	0.446																																						ENST00000501954.2																			0																																																			0							g.chr12:34190730_34190731insTT																													12.37:g.34190730_34190731insTT						RP11-847H18.3_ENST00000537655.1_lincRNA								0	325	-									RNA	INS	ENST00000501954.2	37																																																																																						0.446	RP11-847H18.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000403313.1			3	3						3	3	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	89						7	89	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39802386	39802387	+	In_Frame_Ins	INS	-	-	GAAGAA			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:39802386_39802387insGAAGAA	ENST00000373271.1	+	29	3894_3895	c.3489_3490insGAAGAA	c.(3490-3492)gaa>GAAGAAgaa	p.1164_1164E>EEE	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_In_Frame_Ins_p.1164_1164E>EEE|PLCG1_ENST00000244007.3_In_Frame_Ins_p.1164_1164E>EEE	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1164	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGGTGTATGAGGAAGACATGTT	0.515											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3487-3492)gaaaga>gaGAAGAAaaga		phospholipase C, gamma 1																																				SO:0001652	inframe_insertion	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802386_39802387insGAAGAA	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	Exception_encountered	20.37:g.39802386_39802387insGAAGAA	ENSP00000362368:p.GluGlu1164dup		OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000244007.3_In_Frame_Ins_p.1163_1164ER>EKKR|PLCG1_ENST00000373271.1_In_Frame_Ins_p.1163_1164ER>EKKR	p.1163_1164ER>EKKR	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			29	3894_3895	+		Myeloproliferative disorder(115;0.00878)	1163			C2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	In_Frame_Ins	INS	ENST00000373271.1	37	c.3489_3490insGAAGAA	CCDS13314.1																																																																																				0.515	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		47	231						47	231	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	6						4	6	---	---	---	---
SLC25A5	292	broad.mit.edu	37	X	118603962	118603962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:118603962delT	ENST00000317881.8	+	2	566	c.450delT	c.(448-450)gctfs	p.A150fs	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	150					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	AAGCTGGAGCTGAAAGGGAAT	0.537																																						ENST00000317881.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12						c.(448-450)gcfs		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	Clodronate(DB00720)						83.0	85.0	84.0					X																	118603962		2203	4300	6503	SO:0001589	frameshift_variant	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118603962delT	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.450delT	X.37:g.118603962delT	ENSP00000360671:p.Ala150fs					SLC25A5_ENST00000460013.1_3'UTR	p.A150fs	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN			2	566	+			150					B2RCV1|O43350	Frame_Shift_Del	DEL	ENST00000317881.8	37	c.450delT	CCDS14578.1																																																																																				0.537	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		9	124						9	124	---	---	---	---
