#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
CYR61	3491	broad.mit.edu	37	1	86048170	86048170	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:86048170T>C	ENST00000451137.2	+	4	930	c.706T>C	c.(706-708)Tgg>Cgg	p.W236R		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	236	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)	p.W236R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AACAACTTCATGGTCCCAGTG	0.458											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			1	Substitution - Missense(1)	p.W236R(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(706-708)Tgg>Cgg		cysteine-rich, angiogenic inducer, 61							88.0	82.0	84.0					1																	86048170		2203	4300	6503	SO:0001583	missense	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86048170T>C	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.706T>C	1.37:g.86048170T>C	ENSP00000398736:p.Trp236Arg		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241		p.W236R	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	4	930	+			236			TSP type-1.		O14934|O43775|Q9BZL7	Missense_Mutation	SNP	ENST00000451137.2	37	c.706T>C	CCDS706.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820020	0.71028	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.77489	-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96083	0.9055	10	0.87932	D	0	-23.7684	16.6438	0.85155	0.0:0.0:0.0:1.0	.	236	O00622	CYR61_HUMAN	R	236;212;236	ENSP00000398736:W236R	ENSP00000353612:W236R	W	+	1	0	CYR61	85820758	1.000000	0.71417	0.969000	0.41365	0.957000	0.61999	8.026000	0.88783	2.333000	0.79357	0.533000	0.62120	TGG		0.458	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		13	110	0	0	0	1	0	13	110				
PDK1	5163	broad.mit.edu	37	2	173457705	173457705	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:173457705C>A	ENST00000282077.3	+	10	1281	c.1099C>A	c.(1099-1101)Caa>Aaa	p.Q367K	PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K|PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000410055.1_Missense_Mutation_p.Q367K			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	367	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.Q367K(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TCTTTACGCACAATACTTCCA	0.378									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			1	Substitution - Missense(1)	p.Q367K(1)	prostate(1)	central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(1099-1101)Caa>Aaa		pyruvate dehydrogenase kinase, isozyme 1							141.0	138.0	139.0					2																	173457705		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173457705C>A	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1099C>A	2.37:g.173457705C>A	ENSP00000282077:p.Gln367Lys					PDK1_ENST00000282077.2_Missense_Mutation_p.Q367K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K	p.Q367K	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		10	1199	+			367			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.1099C>A	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614680	0.28712	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.8	5.8	0.92144	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.099026	0.64402	D	0.000002	T	0.26593	0.0650	N	0.01679	-0.765	0.44711	D	0.997707	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.17048	-1.0382	10	0.24483	T	0.36	-6.6937	14.9017	0.70684	0.1432:0.8568:0.0:0.0	.	367;387	Q15118;E9PD65	PDK1_HUMAN;.	K	291;212;367;387;367	ENSP00000438567:Q291K;ENSP00000437502:Q212K;ENSP00000282077:Q367K;ENSP00000376352:Q387K;ENSP00000386985:Q367K	ENSP00000282077:Q367K	Q	+	1	0	PDK1	173165951	0.996000	0.38824	0.957000	0.39632	0.939000	0.58152	3.338000	0.52128	2.775000	0.95449	0.650000	0.86243	CAA		0.378	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		4	160	1	0	0.150653	1	0.157827	4	160				
CROCCP2	84809	broad.mit.edu	37	1	16946368	16946368	+	lincRNA	SNP	A	A	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:16946368A>G	ENST00000412962.1	-	0	1151				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGCCAGGAGGAGGCCCTCGTC	0.667																																						ENST00000412962.1																			0																																																			0							g.chr1:16946368A>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946368A>G														0	1151	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.667	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	16	0	0	0	1	0	2	16				
LOC728715	728715	broad.mit.edu	37	12	9723393	9723393	+	RNA	SNP	G	G	A	rs368189128		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:9723393G>A	ENST00000520314.1	+	0	6073																											CCAGGTTAACGGTCATAACCG	0.493																																						ENST00000520314.1																			0																																																			0							g.chr12:9723393G>A																													12.37:g.9723393G>A														0	6073	+									RNA	SNP	ENST00000520314.1	37																																																																																						0.493	RP11-726G1.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000381543.1			13	52	0	0	0	1	0	13	52				
CHPF	79586	broad.mit.edu	37	2	220406592	220406592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:220406592G>T	ENST00000243776.6	-	2	882	c.634C>A	c.(634-636)Cta>Ata	p.L212I	TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.L50I|TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.L212I	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	212					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.L212I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGCCAGTTAGGCGTGCCAGG	0.706											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243776.6																			1	Substitution - Missense(1)	p.L212I(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(634-636)Cta>Ata		chondroitin polymerizing factor							31.0	26.0	28.0					2																	220406592		2200	4299	6499	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406592G>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.634C>A	2.37:g.220406592G>T	ENSP00000243776:p.Leu212Ile		OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_ENST00000535926.1_Missense_Mutation_p.L50I|CHPF_ENST00000373891.2_Missense_Mutation_p.L212I	p.L212I	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	882	-		Renal(207;0.0183)	212					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.634C>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706923	0.48412	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.15256	2.44;2.51	4.29	2.49	0.30216	.	0.000000	0.64402	D	0.000013	T	0.35799	0.0944	M	0.74647	2.275	0.51012	D	0.999905	D;P	0.67145	0.996;0.791	D;B	0.80764	0.994;0.279	T	0.04203	-1.0969	10	0.33141	T	0.24	-9.9151	9.0295	0.36249	0.2435:0.0:0.7565:0.0	.	212;212	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	I	212;50;212	ENSP00000243776:L212I;ENSP00000445571:L50I	ENSP00000243776:L212I	L	-	1	2	CHPF	220114836	1.000000	0.71417	0.161000	0.22692	0.977000	0.68977	2.832000	0.48152	0.577000	0.29470	0.549000	0.68633	CTA		0.706	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		3	30	1	0	0.115264	1	0.123698	3	30				
YME1L1	10730	broad.mit.edu	37	10	27436415	27436415	+	Intron	SNP	C	C	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr10:27436415C>T	ENST00000326799.3	-	3	488				YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Silent_p.G117G|YME1L1_ENST00000376016.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase						cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTGGAGAAACCCGCAGTGTA	0.468																																						ENST00000477432.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(349-351)ggG>ggA		YME1-like 1 ATPase							153.0	131.0	139.0					10																	27436415		2203	4300	6503	SO:0001627	intron_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27436415C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.339+11G>A	10.37:g.27436415C>T						YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000375972.3_Intron	p.G117G			Q96TA2	YMEL1_HUMAN			3	1406	-			0					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.351G>A	CCDS7152.1																																																																																				0.468	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	69	0	0	0	1	0	3	69				
BRD3	8019	broad.mit.edu	37	9	136899859	136899859	+	Missense_Mutation	SNP	C	C	T	rs202198193		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr9:136899859C>T	ENST00000303407.7	-	11	2214	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	677	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.G677R(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCAGCTGCCCGCTGACATCC	0.617			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	2	Substitution - Missense(2)	p.G677R(2)	prostate(2)	kidney(1)|skin(1)|stomach(4)	6						c.(2029-2031)Ggg>Agg		bromodomain containing 3							104.0	102.0	103.0					9																	136899859		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136899859C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.2029G>A	9.37:g.136899859C>T	ENSP00000305918:p.Gly677Arg					BRD3_ENST00000473349.1_5'UTR	p.G677R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	11	2214	-			677			Ser-rich.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.2029G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643449	0.87859	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.33216	1.42	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64676	-0.6351	10	0.59425	D	0.04	-40.4828	16.7337	0.85442	0.0:1.0:0.0:0.0	.	677	Q15059	BRD3_HUMAN	R	677;356	ENSP00000305918:G677R	ENSP00000305918:G677R	G	-	1	0	BRD3	135889680	1.000000	0.71417	0.925000	0.36789	0.830000	0.47004	6.896000	0.75665	2.185000	0.69588	0.491000	0.48974	GGG		0.617	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		4	181	0	0	0	1	0	4	181				
HIST3H3	8290	broad.mit.edu	37	1	228612642	228612642	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:228612642G>A	ENST00000366696.1	-	1	384	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	129					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R129C(1)		large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CGGATACGGCGTGCCAGCTGG	0.602																																						ENST00000366696.1																			1	Substitution - Missense(1)	p.R129C(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(385-387)Cgc>Tgc		histone cluster 3, H3							77.0	68.0	71.0					1																	228612642		2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612642G>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.385C>T	1.37:g.228612642G>A	ENSP00000355657:p.Arg129Cys						p.R129C	NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN			1	384	-		Prostate(94;0.0724)	129					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.385C>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	g	7.073	0.568738	0.13560	.	.	ENSG00000168148	ENST00000366696	T	0.70164	-0.46	3.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.40222	N	0.001160	T	0.68044	0.2958	M	0.90705	3.14	0.54753	D	0.999985	B	0.28439	0.212	B	0.18263	0.021	T	0.71148	-0.4677	10	0.59425	D	0.04	.	9.6576	0.39936	0.1043:0.0:0.8957:0.0	.	129	Q16695	H31T_HUMAN	C	129	ENSP00000355657:R129C	ENSP00000355657:R129C	R	-	1	0	HIST3H3	226679265	1.000000	0.71417	0.118000	0.21660	0.083000	0.17756	3.543000	0.53633	1.202000	0.43218	0.645000	0.84053	CGC		0.602	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		6	85	0	0	0	1	0	6	85				
CLMN	79789	broad.mit.edu	37	14	95670748	95670748	+	Missense_Mutation	SNP	C	C	T	rs145924471		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr14:95670748C>T	ENST00000298912.4	-	9	1051	c.938G>A	c.(937-939)cGc>cAc	p.R313H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	313					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R313H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTCTTTGATGCGAACAAAAGT	0.373																																						ENST00000298912.4																			1	Substitution - Missense(1)	p.R313H(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(937-939)cGc>cAc		calmin (calponin-like, transmembrane)		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	91.0	96.0	95.0		938	2.9	1.0	14	dbSNP_134	95	0,8600		0,0,4300	no	missense	CLMN	NM_024734.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	313/1003	95670748	2,13004	2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670748C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.938G>A	14.37:g.95670748C>T	ENSP00000298912:p.Arg313His						p.R313H	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1051	-			313					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.938G>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531008	0.45073	4.54E-4	0.0	ENSG00000165959	ENST00000298912	D	0.93307	-3.2	5.64	2.86	0.33363	.	0.354493	0.20869	N	0.084216	D	0.87156	0.6107	L	0.52364	1.645	0.80722	D	1	P	0.45715	0.865	B	0.36766	0.232	T	0.81393	-0.0953	10	0.25106	T	0.35	.	6.0299	0.19675	0.0:0.5391:0.0:0.4608	.	313	Q96JQ2	CLMN_HUMAN	H	313	ENSP00000298912:R313H	ENSP00000298912:R313H	R	-	2	0	CLMN	94740501	1.000000	0.71417	0.995000	0.50966	0.737000	0.42083	0.987000	0.29603	0.753000	0.32945	0.655000	0.94253	CGC		0.373	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			4	174	0	0	0	1	0	4	174				
SLCO1B1	10599	broad.mit.edu	37	12	21350054	21350054	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:21350054C>A	ENST00000256958.2	+	8	998	c.902C>A	c.(901-903)aCa>aAa	p.T301K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	301					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.T301K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTGCTGGAAACAAATGATGAA	0.328																																						ENST00000256958.2																			1	Substitution - Missense(1)	p.T301K(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(901-903)aCa>aAa		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						101.0	97.0	98.0					12																	21350054		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21350054C>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.902C>A	12.37:g.21350054C>A	ENSP00000256958:p.Thr301Lys						p.T301K	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			8	998	+			301					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.902C>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	7.166	0.586714	0.13749	.	.	ENSG00000134538	ENST00000256958	T	0.56444	0.46	3.08	2.15	0.27550	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.278740	0.01658	N	0.024928	T	0.48077	0.1480	L	0.43152	1.355	0.09310	N	1	B	0.14438	0.01	B	0.27608	0.081	T	0.25222	-1.0138	10	0.14656	T	0.56	.	8.5032	0.33170	0.5588:0.4412:0.0:0.0	.	301	Q9Y6L6	SO1B1_HUMAN	K	301	ENSP00000256958:T301K	ENSP00000256958:T301K	T	+	2	0	SLCO1B1	21241321	0.293000	0.24371	0.168000	0.22838	0.079000	0.17450	1.264000	0.33015	0.578000	0.29487	0.313000	0.20887	ACA		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		30	122	1	0	9.39395e-14	1	1.18095e-13	30	122				
CNGA4	1262	broad.mit.edu	37	11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr11:6261464C>T	ENST00000379936.2	+	4	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A147V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587																																						ENST00000379936.2																			1	Substitution - Missense(1)	p.A147V(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(439-441)gCg>gTg		cyclic nucleotide gated channel alpha 4							79.0	86.0	84.0					11																	6261464		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261464C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.440C>T	11.37:g.6261464C>T	ENSP00000369268:p.Ala147Val					CNGA4_ENST00000533426.1_Intron	p.A147V	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	555	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	147						Missense_Mutation	SNP	ENST00000379936.2	37	c.440C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	1.015	-0.686802	0.03328	.	.	ENSG00000132259	ENST00000379936	D	0.97404	-4.37	5.26	-5.43	0.02632	Ion transport (1);	0.589948	0.18900	N	0.128064	D	0.86760	0.6010	N	0.01668	-0.77	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.74450	-0.3661	10	0.22109	T	0.4	.	14.3643	0.66795	0.0:0.5734:0.0:0.4266	.	147;107	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	V	147	ENSP00000369268:A147V	ENSP00000369268:A147V	A	+	2	0	CNGA4	6218040	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.473000	0.06615	-1.108000	0.03000	-0.794000	0.03295	GCG		0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		5	205	0	0	0	1	0	5	205				
DPYSL2	1808	broad.mit.edu	37	8	26484737	26484737	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr8:26484737G>A	ENST00000311151.5	+	6	959	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	183					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.E183K(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCAGATTTATGAAGTACTGAG	0.483																																						ENST00000311151.5																			1	Substitution - Missense(1)	p.E183K(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(547-549)Gaa>Aaa		dihydropyrimidinase-like 2							115.0	107.0	110.0					8																	26484737		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26484737G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.547G>A	8.37:g.26484737G>A	ENSP00000309539:p.Glu183Lys					DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K	p.E183K	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	6	959	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	183					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.547G>A	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198118	0.79015	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.58	5.58	0.84498	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	L	0.52011	1.625	0.80722	D	1	B;D;D	0.76494	0.17;0.991;0.999	B;D;D	0.78314	0.099;0.977;0.991	D	0.93595	0.6925	10	0.49607	T	0.09	-22.2419	19.5653	0.95390	0.0:0.0:1.0:0.0	.	183;183;239	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	K	147;183;183;147	ENSP00000427985:E147K;ENSP00000309539:E183K;ENSP00000428909:E183K;ENSP00000431117:E147K	ENSP00000309539:E183K	E	+	1	0	DPYSL2	26540654	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	9.864000	0.99589	2.612000	0.88384	0.655000	0.94253	GAA		0.483	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		14	55	0	0	0	1	0	14	55				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'Flank	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		5	51	0	0	0	1	0	5	51				
GCM2	9247	broad.mit.edu	37	6	10881950	10881950	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr6:10881950G>T	ENST00000379491.4	-	1	224	c.77C>A	c.(76-78)cCg>cAg	p.P26Q	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.2_ENST00000436249.3_RNA|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	26					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.P26Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGGCATCTGCGGATCGTTGAT	0.642																																						ENST00000379491.4																			1	Substitution - Missense(1)	p.P26Q(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(76-78)cCg>cAg		glial cells missing homolog 2 (Drosophila)							52.0	46.0	48.0					6																	10881950		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10881950G>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.77C>A	6.37:g.10881950G>T	ENSP00000368805:p.Pro26Gln					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.P26Q	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			1	224	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	26					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.77C>A	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061572	0.93846	.	.	ENSG00000124827	ENST00000379491	T	0.73363	-0.74	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84625	0.0686	10	0.66056	D	0.02	-14.6888	19.1268	0.93388	0.0:0.0:1.0:0.0	.	26	O75603	GCM2_HUMAN	Q	26	ENSP00000368805:P26Q	ENSP00000368805:P26Q	P	-	2	0	GCM2	10989936	1.000000	0.71417	0.937000	0.37676	0.912000	0.54170	9.005000	0.93587	2.503000	0.84419	0.561000	0.74099	CCG		0.642	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			3	68	1	0	0.115264	1	0.123698	3	68				
GGT5	2687	broad.mit.edu	37	22	24622217	24622217	+	Silent	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr22:24622217C>A	ENST00000327365.4	-	8	1472	c.1056G>T	c.(1054-1056)ctG>ctT	p.L352L	GGT5_ENST00000418439.2_Silent_p.L275L|GGT5_ENST00000263112.7_Silent_p.L320L|GGT5_ENST00000398292.3_Silent_p.L352L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	352					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.L352L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TCTCCCCCAGCAGGTCCCGGG	0.682																																						ENST00000327365.4																			1	Substitution - coding silent(1)	p.L352L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1054-1056)ctG>ctT		gamma-glutamyltransferase 5							25.0	30.0	28.0					22																	24622217		2202	4297	6499	SO:0001819	synonymous_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622217C>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1056G>T	22.37:g.24622217C>A						GGT5_ENST00000263112.7_Silent_p.L320L|GGT5_ENST00000418439.2_Silent_p.L275L|GGT5_ENST00000398292.3_Silent_p.L352L	p.L352L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1472	-			352					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	c.1056G>T	CCDS13825.1																																																																																				0.682	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		3	52	1	0	1	1	1	3	52				
NCAM2	4685	broad.mit.edu	37	21	22849736	22849736	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr21:22849736A>G	ENST00000400546.1	+	15	2270	c.2021A>G	c.(2020-2022)tAt>tGt	p.Y674C	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	674	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y674C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGATTGGGATATTCTGAACCG	0.368																																						ENST00000400546.1																			1	Substitution - Missense(1)	p.Y674C(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(2020-2022)tAt>tGt		neural cell adhesion molecule 2							91.0	85.0	87.0					21																	22849736		1871	4113	5984	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849736A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2021A>G	21.37:g.22849736A>G	ENSP00000383392:p.Tyr674Cys					NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	p.Y674C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2270	+		Lung NSC(9;0.195)	674			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2021A>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114208	0.56505	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.53640	0.61;0.61	5.8	3.21	0.36854	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.202352	0.45126	D	0.000390	T	0.35682	0.0940	N	0.08118	0	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.52627	0.704;0.704	T	0.18116	-1.0347	10	0.40728	T	0.16	-18.2703	10.8739	0.46900	0.7994:0.0:0.0:0.2006	.	532;674	B7Z5K2;O15394	.;NCAM2_HUMAN	C	674;532	ENSP00000383392:Y674C;ENSP00000284894:Y532C	ENSP00000284894:Y532C	Y	+	2	0	NCAM2	21771607	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.972000	0.40540	2.213000	0.71641	0.528000	0.53228	TAT		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		21	129	0	0	0	1	0	21	129				
NOX5	79400	broad.mit.edu	37	15	69348910	69348910	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr15:69348910C>A	ENST00000388866.3	+	16	2213	c.2172C>A	c.(2170-2172)ttC>ttA	p.F724L	NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000260364.5_Missense_Mutation_p.F706L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L|NOX5_ENST00000530406.2_Missense_Mutation_p.F696L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	724					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.F706L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCCAGGTGTTCCAGAAAGTGG	0.557																																						ENST00000260364.5																			1	Substitution - Missense(1)	p.F706L(1)	prostate(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2116-2118)ttC>ttA		NADPH oxidase, EF-hand calcium binding domain 5							86.0	82.0	84.0					15																	69348910		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69348910C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2172C>A	15.37:g.69348910C>A	ENSP00000373518:p.Phe724Leu					NOX5_ENST00000388866.3_Missense_Mutation_p.F724L|NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L	p.F706L			Q96PH1	NOX5_HUMAN			17	2419	+			724					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2118C>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140587	0.21205	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.93307	-3.2;-3.2;-3.2	3.41	3.41	0.39046	Ferric reductase, NAD binding (1);	0.071563	0.56097	U	0.000033	D	0.88485	0.6449	L	0.42581	1.335	0.43857	D	0.996453	B;B;B	0.29162	0.02;0.235;0.02	B;B;B	0.26094	0.027;0.066;0.027	D	0.85413	0.1138	10	0.30854	T	0.27	.	10.6097	0.45415	0.0:0.8025:0.1975:0.0	.	689;724;696	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	L	689;706;724;696	ENSP00000416828:F689L;ENSP00000373518:F724L;ENSP00000432440:F696L	ENSP00000373518:F724L	F	+	3	2	NOX5	67135964	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	0.641000	0.24720	1.746000	0.51805	0.505000	0.49811	TTC		0.557	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		26	145	1	0	1.22384e-17	1	1.58379e-17	26	145				
HRC	3270	broad.mit.edu	37	19	49656664	49656664	+	Splice_Site	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:49656664C>A	ENST00000252825.4	-	1	2017	c.1831G>T	c.(1831-1833)Ggt>Tgt	p.G611C	HRC_ENST00000595625.1_Splice_Site_p.G611C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	611					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.G611C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCACTTACCTGTGTCCTCA	0.632																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			1	Substitution - Missense(1)	p.G611C(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.e1+1		histidine rich calcium binding protein							92.0	76.0	82.0					19																	49656664		2203	4300	6503	SO:0001630	splice_region_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656664C>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1831+1G>T	19.37:g.49656664C>A						HRC_ENST00000595625.1_Splice_Site_p.G611_splice	p.G611_splice	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	2017	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	611					Q504Y6	Splice_Site	SNP	ENST00000252825.4	37	c.1831_splice	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960315	0.53400	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.51325	0.71	3.01	3.01	0.34805	.	.	.	.	.	T	0.49474	0.1559	L	0.51422	1.61	0.39039	D	0.960086	D	0.63046	0.992	P	0.52710	0.707	T	0.50659	-0.8802	8	.	.	.	-3.5834	9.7229	0.40313	0.0:1.0:0.0:0.0	.	611	P23327	SRCH_HUMAN	C	611;301	ENSP00000252825:G611C	.	G	-	1	0	HRC	54348476	0.954000	0.32549	0.966000	0.40874	0.624000	0.37722	2.584000	0.46102	2.016000	0.59253	0.563000	0.77884	GGT		0.632	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	Missense_Mutation	3	72	1	0	1	1	1	3	72				
SLC2A14	144195	broad.mit.edu	37	12	7982567	7982567	+	Missense_Mutation	SNP	G	G	A	rs145793375	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:7982567G>A	ENST00000543909.1	-	10	1136	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	126					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.A126V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCACCAGTGGCAGCCAACAG	0.478													g|||	5	0.000998403	0.0038	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000543909.1																			1	Substitution - Missense(1)	p.A126V(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(376-378)gCc>gTc		solute carrier family 2 (facilitated glucose transporter), member 14		G	VAL/ALA	8,4398	14.3+/-33.2	0,8,2195	65.0	63.0	64.0		377	1.9	0.0	12	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC2A14	NM_153449.2	64	0,10,6493	AA,AG,GG		0.0233,0.1816,0.0769	benign	126/521	7982567	10,12996	2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982567G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.377C>T	12.37:g.7982567G>A	ENSP00000440480:p.Ala126Val					SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000542505.1_Intron	p.A126V			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1136	-			126					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.377C>T	CCDS8585.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	0.809	-0.752646	0.03041	0.001816	2.33E-4	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557	T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	3.11	1.93	0.25924	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.845509	0.10675	N	0.647105	T	0.23171	0.0560	N	0.00754	-1.215	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.20605	-1.0270	10	0.13853	T	0.58	.	6.7344	0.23401	0.8739:0.0:0.1261:0.0	.	141;17;103;126	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	V	103;126;103;126;17;17;141;103;103;103;126	ENSP00000340450:A103V;ENSP00000440480:A126V;ENSP00000407287:A103V;ENSP00000379834:A126V;ENSP00000440492:A17V;ENSP00000443903:A17V;ENSP00000445929:A141V;ENSP00000440043:A103V;ENSP00000438312:A103V;ENSP00000443217:A103V;ENSP00000440044:A126V	ENSP00000340450:A103V	A	-	2	0	SLC2A14	7873834	0.741000	0.28217	0.000000	0.03702	0.018000	0.09664	6.492000	0.73654	0.214000	0.20742	-0.606000	0.04082	GCC		0.478	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		3	69	0	0	0	1	0	3	69				
JADE2	23338	broad.mit.edu	37	5	133914476	133914476	+	Silent	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr5:133914476G>A	ENST00000282605.4	+	12	2060	c.1974G>A	c.(1972-1974)ggG>ggA	p.G658G	PHF15_ENST00000395003.1_Silent_p.G614G|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.G615G														p.G614G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCAGGACGGGCCTGGTTCAC	0.672																																						ENST00000395003.1																			1	Substitution - coding silent(1)	p.G614G(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1840-1842)ggG>ggA									43.0	47.0	45.0					5																	133914476		2203	4300	6503	SO:0001819	synonymous_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914476G>A																												ENST00000282605.4:c.1974G>A	5.37:g.133914476G>A						PHF15_ENST00000282605.4_Silent_p.G658G|PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000402835.1_3'UTR	p.G614G	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2021	+			614			Pro-rich.			Silent	SNP	ENST00000282605.4	37	c.1842G>A																																																																																					0.672	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			5	48	0	0	0	1	0	5	48				
TBX18	9096	broad.mit.edu	37	6	85448257	85448257	+	Missense_Mutation	SNP	G	G	A	rs571410094		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr6:85448257G>A	ENST00000369663.5	-	7	1394	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	TBX18_ENST00000606784.1_Missense_Mutation_p.R195W	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	353					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R353W(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTCAGAGTCCGTAGTGATGGT	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19793	0.001		0.0	False		,,,				2504	0.0					ENST00000369663.5																			2	Substitution - Missense(2)	p.R353W(2)	large_intestine(1)|prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1057-1059)Cgg>Tgg		T-box 18							218.0	204.0	209.0					6																	85448257		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85448257G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1057C>T	6.37:g.85448257G>A	ENSP00000358677:p.Arg353Trp					TBX18_ENST00000606784.1_Missense_Mutation_p.R195W	p.R353W	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1394	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	353					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1057C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409287	0.62399	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.89343	-2.5	5.54	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.969;0.999	D	0.90421	0.4417	10	0.87932	D	0	.	13.4672	0.61260	0.0:0.0:0.5625:0.4375	.	269;353	Q8IW86;O95935	.;TBX18_HUMAN	W	268;353	ENSP00000358677:R353W	ENSP00000358677:R353W	R	-	1	2	TBX18	85504976	0.987000	0.35691	0.934000	0.37439	0.548000	0.35241	1.935000	0.40173	1.427000	0.47276	0.650000	0.86243	CGG		0.468	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		93	398	0	0	0	1	0	93	398				
ACTRT1	139741	broad.mit.edu	37	X	127185764	127185764	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chrX:127185764G>A	ENST00000371124.3	-	1	618	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	141						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A141V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGCTGCCACCGCATGATTAGA	0.522																																						ENST00000371124.3																			1	Substitution - Missense(1)	p.A141V(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(421-423)gCg>gTg		actin-related protein T1							192.0	176.0	182.0					X																	127185764		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185764G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.422C>T	X.37:g.127185764G>A	ENSP00000360165:p.Ala141Val						p.A141V	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	618	-			141					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.422C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148347	0.37923	.	.	ENSG00000123165	ENST00000371124	D	0.97811	-4.55	3.75	1.94	0.25998	.	0.094216	0.44097	D	0.000492	D	0.98673	0.9555	H	0.94462	3.54	0.43207	D	0.995069	D	0.89917	1.0	D	0.97110	1.0	D	0.97562	1.0099	10	0.87932	D	0	.	5.6715	0.17725	0.113:0.0:0.6924:0.1946	.	141	Q8TDG2	ACTT1_HUMAN	V	141	ENSP00000360165:A141V	ENSP00000360165:A141V	A	-	2	0	ACTRT1	127013445	1.000000	0.71417	0.020000	0.16555	0.085000	0.17905	3.934000	0.56553	0.390000	0.25115	0.538000	0.68166	GCG		0.522	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5	266	0	0	0	1	0	5	266				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	118	0	0	0	1	0	3	118				
ZNF683	257101	broad.mit.edu	37	1	26691329	26691329	+	Silent	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:26691329C>A	ENST00000436292.1	-	4	828	c.708G>T	c.(706-708)ctG>ctT	p.L236L	ZNF683_ENST00000403843.1_Silent_p.L236L|ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000374204.1_Silent_p.L236L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	236					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L236L(1)|p.L221L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCATCATCAGCAGGCTAGGCA	0.632																																						ENST00000436292.1																			2	Substitution - coding silent(2)	p.L236L(1)|p.L221L(1)	prostate(2)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(706-708)ctG>ctT		zinc finger protein 683							53.0	58.0	57.0					1																	26691329		2203	4300	6503	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691329C>A	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.708G>T	1.37:g.26691329C>A						ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000403843.1_Silent_p.L236L|ZNF683_ENST00000374204.1_Silent_p.L236L	p.L236L			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	828	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	236					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.708G>T		.	.	.	.	.	.	.	.	.	.	C	2.518	-0.311364	0.05422	.	.	ENSG00000176083	ENST00000374203	.	.	.	4.74	1.79	0.24919	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35500	-0.9786	5	0.87932	D	0	-0.1957	6.9614	0.24599	0.0:0.7038:0.0:0.2962	.	.	.	.	F	168	.	ENSP00000363319:C168F	C	-	2	0	ZNF683	26563916	0.382000	0.25148	0.009000	0.14445	0.016000	0.09150	0.091000	0.15046	0.619000	0.30197	-0.258000	0.10820	TGC		0.632	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		13	119	1	0	0.000422831	1	0.000502827	13	119				
C16orf62	57020	broad.mit.edu	37	16	19661780	19661780	+	Splice_Site	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:19661780G>A	ENST00000251143.5	+	25	2117	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	C16orf62_ENST00000448695.1_Splice_Site_p.R552Q|C16orf62_ENST00000543152.1_Splice_Site_p.R451Q|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000438132.3_Splice_Site_p.R791Q|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	702						integral component of membrane (GO:0016021)		p.R702Q(1)|p.R791Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GCATTTGTCCGGGTATGTTCT	0.378																																						ENST00000438132.3																			2	Substitution - Missense(2)	p.R702Q(1)|p.R791Q(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.e25+1		chromosome 16 open reading frame 62							104.0	104.0	104.0					16																	19661780		2197	4300	6497	SO:0001630	splice_region_variant	57020					integral to membrane		g.chr16:19661780G>A		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2106+1G>A	16.37:g.19661780G>A						C16orf62_ENST00000251143.5_Splice_Site_p.R702_splice|C16orf62_ENST00000543152.1_Splice_Site_p.R451_splice|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000448695.1_Splice_Site_p.R552_splice|C16orf62_ENST00000417362.2_Intron	p.R791_splice	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			25	2420	+			702					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Splice_Site	SNP	ENST00000251143.5	37	c.2373_splice		.	.	.	.	.	.	.	.	.	.	G	33	5.253721	0.95336	.	.	ENSG00000103544	ENST00000438132;ENST00000251143;ENST00000448695	T;T;T	0.61274	0.12;0.12;0.12	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.77230	-0.2664	9	.	.	.	-26.7973	18.3732	0.90420	0.0:0.0:1.0:0.0	.	702	Q7Z3J2	CP062_HUMAN	Q	791;702;552	ENSP00000400815:R791Q;ENSP00000251143:R702Q;ENSP00000398009:R552Q	.	R	+	2	0	C16orf62	19569281	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	7.328000	0.79160	2.941000	0.99782	0.655000	0.94253	CGG		0.378	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	Missense_Mutation	4	186	0	0	0	1	0	4	186				
GALNT4	8693	broad.mit.edu	37	12	89917323	89917323	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:89917323C>G	ENST00000529983.2	-	1	1260	c.1004G>C	c.(1003-1005)gGa>gCa	p.G335A	POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G332A|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	335	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G335A(1)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GTTTTCACCTCCCCACACTTC	0.522																																						ENST00000548729.1																			1	Substitution - Missense(1)	p.G335A(1)	prostate(1)								c.(994-996)gGa>gCa									180.0	183.0	182.0					12																	89917323		2037	4204	6241	SO:0001583	missense	0							g.chr12:89917323C>G	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1004G>C	12.37:g.89917323C>G	ENSP00000436604:p.Gly335Ala					POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G335A|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron	p.G332A	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1297	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.995G>C	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491033	0.84962	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.96136	-0.26;-3.92;-0.26	5.84	5.84	0.93424	.	.	.	.	.	D	0.98679	0.9557	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99383	1.0923	9	0.87932	D	0	.	19.1417	0.93448	0.0:1.0:0.0:0.0	.	332;335	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	A	332;163;335	ENSP00000447852:G332A;ENSP00000389686:G163A;ENSP00000436604:G335A	ENSP00000436604:G335A	G	-	2	0	GALNT4;RP11-1109F11.4	88441454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.760000	0.85248	2.764000	0.94973	0.650000	0.86243	GGA		0.522	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		42	257	0	0	0	1	0	42	257				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	118	0	0	0	1	0	5	118				
AGTRAP	57085	broad.mit.edu	37	1	11810282	11810282	+	3'UTR	SNP	G	G	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:11810282G>T	ENST00000314340.5	+	0	567				AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000510878.1_Missense_Mutation_p.G136V|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000400895.2_3'UTR	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein						regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCCGGGCCTTCCTCGT	0.637																																						ENST00000510878.1																		AGTRAP/BRAF(2)	0				endometrium(1)|lung(3)|prostate(1)	5						c.(406-408)gGc>gTc		angiotensin II receptor-associated protein																																				SO:0001624	3_prime_UTR_variant	57085					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr1:11810282G>T	AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.*33G>T	1.37:g.11810282G>T						AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000314340.5_3'UTR|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR	p.G136V			Q6RW13	ATRAP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	441	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0					A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	37	c.407G>T	CCDS136.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946404	0.18356	.	.	ENSG00000177674	ENST00000510878	.	.	.	4.07	-1.48	0.08745	.	.	.	.	.	T	0.36936	0.0985	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41822	-0.9487	5	0.87932	D	0	.	4.6476	0.12579	0.3623:0.1656:0.4721:0.0	.	.	.	.	V	136	.	ENSP00000422647:G136V	G	+	2	0	AGTRAP	11732869	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.802000	0.04545	-0.267000	0.09325	-0.350000	0.07774	GGC		0.637	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1	NM_020350		4	12	1	0	0.014758	1	0.01665	4	12				
GPR141	353345	broad.mit.edu	37	7	37780909	37780909	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr7:37780909G>T	ENST00000447769.1	+	4	1203	c.914G>T	c.(913-915)cGt>cTt	p.R305L	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R305L			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R305L(2)|p.R305H(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTTGTGCCGTTAGCCACAA	0.363																																						ENST00000447769.1																			3	Substitution - Missense(3)	p.R305L(2)|p.R305H(1)	ovary(1)|prostate(1)|endometrium(1)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(913-915)cGt>cTt		G protein-coupled receptor 141							59.0	57.0	58.0					7																	37780909		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780909G>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.914G>T	7.37:g.37780909G>T	ENSP00000390410:p.Arg305Leu					GPR141_ENST00000334425.1_Missense_Mutation_p.R305L|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron	p.R305L			Q7Z602	GP141_HUMAN			4	1203	+			305					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.914G>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982482	0.34942	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.18810	2.19;2.19	5.2	-3.2	0.05156	.	1.171940	0.06092	N	0.663753	T	0.18593	0.0446	L	0.36672	1.1	0.09310	N	1	B	0.25007	0.116	B	0.23716	0.048	T	0.40175	-0.9577	10	0.72032	D	0.01	.	12.685	0.56942	0.6984:0.0:0.3016:0.0	.	305	Q7Z602	GP141_HUMAN	L	305	ENSP00000390410:R305L;ENSP00000334540:R305L	ENSP00000334540:R305L	R	+	2	0	GPR141	37747434	0.049000	0.20398	0.015000	0.15790	0.137000	0.21094	-0.041000	0.12084	-0.768000	0.04626	0.655000	0.94253	CGT		0.363	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		6	78	1	0	1.50039e-11	1	1.83381e-11	6	78				
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:22940373T>C	ENST00000596209.1	-	4	2428	c.2338A>G	c.(2338-2340)Aag>Gag	p.K780E	ZNF99_ENST00000397104.3_Missense_Mutation_p.K689E|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343																																						ENST00000397104.3																			3	Substitution - Missense(3)	p.K689E(3)	prostate(1)|lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2065-2067)Aag>Gag		zinc finger protein 99							32.0	34.0	34.0					19																	22940373		1947	4138	6085	SO:0001583	missense	7652							g.chr19:22940373T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2338A>G	19.37:g.22940373T>C	ENSP00000472969:p.Lys780Glu					ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E	p.K689E							5	2064	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2065A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	9.727	1.161345	0.21538	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	L	0.28400	0.85	0.09310	N	1	D	0.65815	0.995	D	0.65233	0.933	T	0.12837	-1.0532	9	0.54805	T	0.06	.	4.187	0.10402	0.1821:0.0:0.5141:0.3038	.	689	A8MXY4	ZNF99_HUMAN	E	689	ENSP00000380293:K689E	ENSP00000380293:K689E	K	-	1	0	ZNF99	22732213	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.737000	0.04877	-0.939000	0.03709	0.313000	0.20887	AAG		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	172	0	0	0	1	0	4	172				
PHYH	5264	broad.mit.edu	37	10	13330436	13330436	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr10:13330436C>T	ENST00000263038.4	-	6	660	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	PHYH_ENST00000396920.3_Missense_Mutation_p.R184Q|PHYH_ENST00000396913.2_Missense_Mutation_p.R101Q	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	201					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.R201Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GCCGTTGTTCCGGCTGATGTG	0.627																																						ENST00000396920.3																			1	Substitution - Missense(1)	p.R201Q(1)	prostate(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(550-552)cGg>cAg		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						68.0	65.0	66.0					10																	13330436		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13330436C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.602G>A	10.37:g.13330436C>T	ENSP00000263038:p.Arg201Gln					PHYH_ENST00000263038.4_Missense_Mutation_p.R201Q|PHYH_ENST00000396913.2_Missense_Mutation_p.R101Q	p.R184Q			O14832	PAHX_HUMAN			6	955	-		Ovarian(717;0.0448)	201					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.551G>A	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055245	0.55325	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.69	3.85	0.44370	.	0.150191	0.56097	N	0.000034	D	0.91994	0.7464	M	0.90019	3.08	0.23820	N	0.996755	P;D	0.56035	0.947;0.974	P;P	0.51229	0.532;0.663	D	0.84800	0.0784	10	0.30854	T	0.27	-19.1168	10.3563	0.43967	0.0:0.7722:0.0:0.2278	.	184;201	B1ALH6;O14832	.;PAHX_HUMAN	Q	101;201;184;101;203	ENSP00000380121:R101Q;ENSP00000263038:R201Q;ENSP00000380126:R184Q;ENSP00000412525:R101Q;ENSP00000420117:R203Q	ENSP00000263038:R201Q	R	-	2	0	PHYH	13370442	0.997000	0.39634	0.224000	0.23877	0.025000	0.11179	3.279000	0.51670	0.764000	0.33197	0.655000	0.94253	CGG		0.627	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			3	88	0	0	0	1	0	3	88				
SPTAN1	6709	broad.mit.edu	37	9	131339198	131339198	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr9:131339198A>G	ENST00000372731.4	+	6	858	c.748A>G	c.(748-750)Aag>Gag	p.K250E	SPTAN1_ENST00000358161.5_Missense_Mutation_p.K250E|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K250E	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	250					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.K250E(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGGCAGGGGAAGCTCTTTGG	0.567																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			1	Substitution - Missense(1)	p.K250E(1)	prostate(1)	NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(748-750)Aag>Gag		spectrin, alpha, non-erythrocytic 1							58.0	60.0	60.0					9																	131339198		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339198A>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.748A>G	9.37:g.131339198A>G	ENSP00000361816:p.Lys250Glu					SPTAN1_ENST00000372731.4_Missense_Mutation_p.K250E|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K250E	p.K250E			Q13813	SPTA2_HUMAN			6	861	+			250					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.748A>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438951	0.83885	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.50548	0.74;0.74;0.74	5.87	5.87	0.94306	.	0.047392	0.85682	D	0.000000	T	0.51601	0.1684	L	0.37561	1.115	0.58432	D	0.999993	B;B;B;P;P	0.50272	0.271;0.164;0.259;0.545;0.933	B;B;B;B;P	0.52710	0.176;0.142;0.341;0.336;0.707	T	0.47837	-0.9086	10	0.41790	T	0.15	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	250;250;250;250;250	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	E	250	ENSP00000350882:K250E;ENSP00000361816:K250E;ENSP00000361824:K250E	ENSP00000350882:K250E	K	+	1	0	SPTAN1	130379019	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	4.616000	0.61197	2.371000	0.80710	0.533000	0.62120	AAG		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	33	0	0	0	1	0	4	33				
PRKCSH	5589	broad.mit.edu	37	19	11558391	11558391	+	Silent	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:11558391G>A	ENST00000589838.1	+	10	987	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PRKCSH_ENST00000591462.1_Silent_p.E329E|PRKCSH_ENST00000252455.2_Silent_p.E329E|PRKCSH_ENST00000592741.1_Silent_p.E329E|PRKCSH_ENST00000412601.1_Silent_p.E329E|PRKCSH_ENST00000587327.1_Silent_p.E329E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	329	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E329E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgaagaagaggaggaggagg	0.632																																						ENST00000252455.2																			1	Substitution - coding silent(1)	p.E329E(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(985-987)gaG>gaA		protein kinase C substrate 80K-H							23.0	23.0	23.0					19																	11558391		2201	4298	6499	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11558391G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.987G>A	19.37:g.11558391G>A						PRKCSH_ENST00000591462.1_Silent_p.E329E|PRKCSH_ENST00000589838.1_Silent_p.E329E|PRKCSH_ENST00000412601.1_Silent_p.E329E|PRKCSH_ENST00000587327.1_Silent_p.E329E|PRKCSH_ENST00000592741.1_Silent_p.E329E	p.E329E	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			11	1323	+			329			Glu-rich (acidic).		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.987G>A	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			3	11	0	0	0	1	0	3	11				
LRRC36	55282	broad.mit.edu	37	16	67375899	67375899	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:67375899G>A	ENST00000329956.6	+	2	129	c.110G>A	c.(109-111)gGc>gAc	p.G37D	LRRC36_ENST00000563303.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	37								p.G37D(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTTATGCTGGCAAAATCCAT	0.378																																						ENST00000329956.6																			1	Substitution - Missense(1)	p.G37D(1)	prostate(1)	endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(109-111)gGc>gAc		leucine rich repeat containing 36							122.0	117.0	119.0					16																	67375899		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67375899G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.110G>A	16.37:g.67375899G>A	ENSP00000329943:p.Gly37Asp					LRRC36_ENST00000563303.1_Intron	p.G37D	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	2	129	+		Ovarian(137;0.192)	37					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.110G>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360169	0.41801	.	.	ENSG00000159708	ENST00000329956	T	0.06608	3.28	5.55	5.55	0.83447	.	0.143109	0.46758	D	0.000280	T	0.10078	0.0247	N	0.05306	-0.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52457	-0.8573	10	0.29301	T	0.29	-11.0739	15.0199	0.71621	0.0:0.0:1.0:0.0	.	37	Q1X8D7	LRC36_HUMAN	D	37	ENSP00000329943:G37D	ENSP00000329943:G37D	G	+	2	0	LRRC36	65933400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.760000	0.62235	2.614000	0.88457	0.563000	0.77884	GGC		0.378	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		4	159	0	0	0	1	0	4	159				
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	-	rs66614970|rs6667693|rs537852372|rs61775088|rs61775087|rs151149897|rs61775086|rs61775085|rs61775084|rs1134584|rs568953708	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENST00000374222.1	-	16	1974_1997	c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1510-1533)ggtcccggtcccggccccagtcccdel	p.GPGPGPSP504del	UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000314675.7_In_Frame_Del_p.GPGPGPSP384del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del			Q5T124	UBX11_HUMAN	UBX domain protein 11	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714																																						ENST00000314675.7																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)	upper_aerodigestive_tract(1)|ovary(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1150-1173)del		UBX domain protein 11			,,	1160,368		529,102,133					,,	-2.8	0.0		dbSNP_134	34	3900,354		1880,140,107	no	coding,coding,coding	UBXN11	NM_183008.2,NM_145345.2,NM_001077262.1	,,	2409,242,240	A1A1,A1R,RR		8.3216,24.0838,12.487	,,	,,		5060,722				SO:0001651	inframe_deletion	91544					cytoplasm|cytoskeleton		g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	1.37:g.26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENSP00000363339:p.Gly504_Pro511del					UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPGPGPSP504del	p.GPGPGPSP384del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1229_1252	-			504					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Del	DEL	ENST00000374222.1	37	c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC	CCDS41288.1																																																																																				0.714	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		11	67						11	67	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40769637	40769637	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:40769637delG	ENST00000372748.3	-	26	1427	c.1331delC	c.(1330-1332)ccafs	p.P444fs	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	444	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCACCCCTGGGTCACCCTG	0.736																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1330-1332)cafs		collagen, type IX, alpha 2							10.0	13.0	12.0					1																	40769637		2150	4198	6348	SO:0001589	frameshift_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40769637delG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1331delC	1.37:g.40769637delG	ENSP00000361834:p.Pro444fs					COL9A2_ENST00000466267.1_5'UTR	p.P444fs	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		26	1427	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	444			Triple-helical region 3 (COL3).		B2RMP9	Frame_Shift_Del	DEL	ENST00000372748.3	37	c.1331delC	CCDS450.1																																																																																				0.736	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		2	4						2	4	---	---	---	---
SRSF11	9295	broad.mit.edu	37	1	70687370	70687371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:70687370_70687371insG	ENST00000370950.3	+	2	133_134	c.51_52insG	c.(52-54)gggfs	p.G18fs	SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.G18fs|RP4-677H15.4_ENST00000422107.1_RNA			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	18	Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GCCCCAGCGGCGGGCCcggtgg	0.649																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(49-54)ggggccfs		serine/arginine-rich splicing factor 11			,	40,4006		6,28,1989					,	3.3	1.0			61	39,8013		6,27,3993	no	frameshift,frameshift	SRSF11	NM_004768.3,NM_001190987.1	,	12,55,5982	A1A1,A1R,RR		0.4844,0.9886,0.653	,	,		79,12019				SO:0001589	frameshift_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70687370_70687371insG	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.54dupG	1.37:g.70687373_70687373dupG	ENSP00000359988:p.Gly18fs					SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.A18fs	p.A18fs			Q05519	SRS11_HUMAN			2	133_134	+			18			Poly-Gly.		Q5T758|Q8IWE6	Frame_Shift_Ins	INS	ENST00000370950.3	37	c.51_52insG	CCDS647.1																																																																																				0.649	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		7	253						7	253	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236228307	236228308	+	Frame_Shift_Ins	INS	-	-	C	rs551401604	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:236228307_236228308insC	ENST00000264187.6	-	1	154_155	c.72_73insG	c.(70-75)gggcctfs	p.P25fs	NID1_ENST00000366595.3_Frame_Shift_Ins_p.P25fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	25					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAGCCCACAGGCCCCGCCAGCA	0.708																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(70-75)ggctgtfs		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236228307_236228308insC	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.73dupG	1.37:g.236228311_236228311dupC	ENSP00000264187:p.Pro25fs					NID1_ENST00000366595.3_Frame_Shift_Ins_p.C25fs	p.C25fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	154_155	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	25					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Frame_Shift_Ins	INS	ENST00000264187.6	37	c.72_73insG	CCDS1608.1																																																																																				0.708	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		2	4						2	4	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89082220	89082223	+	RNA	DEL	TGAT	TGAT	-			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:89082220_89082223delTGAT	ENST00000393525.3	+	0	474									ankyrin repeat domain 36B pseudogene 2																		TGTGTACATATGATTGATTATGTA	0.328																																						ENST00000393525.3																			0																																																			0							g.chr2:89082220_89082223delTGAT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89082224_89082227delTGAT														0	474	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.328	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			9	56						9	56	---	---	---	---
REEP4	80346	broad.mit.edu	37	8	21996234	21996235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr8:21996234_21996235insG	ENST00000306306.3	-	7	1093_1094	c.625_626insC	c.(625-627)cggfs	p.R209fs	REEP4_ENST00000523293.1_Intron|REEP4_ENST00000334530.5_Frame_Shift_Ins_p.G164fs	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	209					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGCTGGCGCCCGGGGGACTGCC	0.663																																						ENST00000306306.3																			0				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7						c.(625-627)ggcfs		receptor accessory protein 4																																				SO:0001589	frameshift_variant	80346					integral to membrane		g.chr8:21996234_21996235insG	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.626dupC	8.37:g.21996239_21996239dupG	ENSP00000303482:p.Arg209fs					REEP4_ENST00000523293.1_Intron|REEP4_ENST00000334530.5_Frame_Shift_Ins_p.A164fs	p.G209fs	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN		Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)	7	1093_1094	-			209					D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Frame_Shift_Ins	INS	ENST00000306306.3	37	c.625_626insC	CCDS6024.1																																																																																				0.663	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	NM_025232		11	253						11	253	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112900482	112900483	+	Frame_Shift_Ins	INS	-	-	C	rs376237093		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr9:112900482_112900483insC	ENST00000259318.7	+	2	2172_2173	c.1965_1966insC	c.(1966-1968)cccfs	p.P656fs	AKAP2_ENST00000555236.1_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000374525.1_Frame_Shift_Ins_p.P745fs|PALM2-AKAP2_ENST00000374530.3_Frame_Shift_Ins_p.P887fs|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000510514.5_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000434623.2_Frame_Shift_Ins_p.P745fs	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	656										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGGAAAGGGGGCCCCCCCAGCC	0.564																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2656-2661)ggccccfs																																						SO:0001589	frameshift_variant	0						enzyme binding	g.chr9:112900482_112900483insC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1972dupC	9.37:g.112900489_112900489dupC	ENSP00000259318:p.Pro656fs					AKAP2_ENST00000434623.2_Frame_Shift_Ins_p.GP744fs|AKAP2_ENST00000374525.1_Frame_Shift_Ins_p.GP744fs|AKAP2_ENST00000259318.7_Frame_Shift_Ins_p.GP655fs|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000555236.1_Frame_Shift_Ins_p.GP886fs|AKAP2_ENST00000510514.5_Frame_Shift_Ins_p.GP886fs|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Ins_p.GP886fs	p.GP886fs	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2838_2839	+			655					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Frame_Shift_Ins	INS	ENST00000259318.7	37	c.2658_2659insC	CCDS48003.1																																																																																				0.564	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		11	36						11	36	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		9	207						9	207	---	---	---	---
GEMIN2	8487	broad.mit.edu	37	14	39601187	39601188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr14:39601187_39601188insT	ENST00000308317.6	+	8	742_743	c.659_660insT	c.(658-663)gcttgtfs	p.C221fs	GEMIN2_ENST00000396249.2_Frame_Shift_Ins_p.C221fs|GEMIN2_ENST00000250379.8_Frame_Shift_Ins_p.C206fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	221					gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											GCTTTATTGGCTTGTCTTGAAA	0.351																																						ENST00000308317.6																			0											c.(658-660)gtgfs		gem (nuclear organelle) associated protein 2																																				SO:0001589	frameshift_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39601187_39601188insT	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.661dupT	14.37:g.39601189_39601189dupT	ENSP00000308533:p.Cys221fs					GEMIN2_ENST00000396249.2_Frame_Shift_Ins_p.V220fs|GEMIN2_ENST00000250379.8_Frame_Shift_Ins_p.V205fs	p.V220fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			8	742_743	+			220					B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Frame_Shift_Ins	INS	ENST00000308317.6	37	c.659_660insT	CCDS9669.1																																																																																				0.351	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2			11	381						11	381	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5995601	5995601	+	RNA	DEL	T	T	-			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:5995601delT	ENST00000569895.1	+	0	436																											ctcagagagattaataactcc	0.468																																						ENST00000569895.1																			0																																																			0							g.chr16:5995601delT																													16.37:g.5995601delT														0	436	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.468	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			2	4						2	4	---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86545125	86545126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:86545125_86545126insC	ENST00000262426.4	+	1	993_994	c.950_951insC	c.(949-954)aacagcfs	p.S318fs	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	318					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CTGCACCAGAACAGCCACAACG	0.683																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(949-951)aagfs		forkhead box F1																																				SO:0001589	frameshift_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86545125_86545126insC	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.951dupC	16.37:g.86545126_86545126dupC	ENSP00000262426:p.Ser318fs						p.K317fs	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	993_994	+			317					B2RAF4|Q5FWE5	Frame_Shift_Ins	INS	ENST00000262426.4	37	c.950_951insC	CCDS10957.2																																																																																				0.683	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		5	5						5	5	---	---	---	---
TTC25	83538	broad.mit.edu	37	17	40104559	40104560	+	RNA	INS	-	-	A	rs61095073|rs11369140		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr17:40104559_40104560insA	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				accctcactccaaaaaaaaaaa	0.416																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25																																						83538					cytoplasm	protein binding	g.chr17:40104559_40104560insA	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40104570_40104570dupA										Q96NG3	TTC25_HUMAN			0	1213	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	INS	ENST00000591658.1	37																																																																																						0.416	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		8	35						8	35	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435501	56435502	+	Frame_Shift_Ins	INS	-	-	G	rs144487242		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr17:56435501_56435502insG	ENST00000584437.1	-	8	3590_3591	c.1635_1636insC	c.(1633-1638)tccagcfs	p.S546fs	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.S505fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.S505fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.S419fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.S546fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.S419fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.S546fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	546					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACATGGCTGGAAACCTGGG	0.624																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1633-1638)tcgccafs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435501_56435502insG		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1636dupC	17.37:g.56435503_56435503dupG	ENSP00000463069:p.Ser546fs					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.P546fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.P419fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.P546fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.P419fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.P505fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.P505fs	p.P546fs			Q68DV7	RNF43_HUMAN			8	3590_3591	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		546					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.1635_1636insC	CCDS11607.1																																																																																				0.624	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		7	195						7	195	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889651	58889662	+	lincRNA	DEL	CATTCTCCCATT	CATTCTCCCATT	-	rs374603250|rs111212420|rs117834183		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr20:58889651_58889662delCATTCTCCCATT	ENST00000432910.1	+	0	332					NR_046099.1																						tccatccatccattctcccattcatccatcct	0.538																																						ENST00000432910.1																			0																																																			0							g.chr20:58889651_58889662delCATTCTCCCATT																													20.37:g.58889651_58889662delCATTCTCCCATT								NR_046099.1						0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.538	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			3	6						3	6	---	---	---	---
