#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
EFNB3	1949	broad.mit.edu	37	17	7611407	7611407	+	Missense_Mutation	SNP	G	G	A	rs562472485		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7611407G>A	ENST00000226091.2	+	2	651	c.254G>A	c.(253-255)gGg>gAg	p.G85E		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	85	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TACCTGGTAGGGGGTGCTCAG	0.627																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(253-255)gGg>gAg		ephrin-B3							57.0	65.0	62.0					17																	7611407		2202	4300	6502	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7611407G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.254G>A	17.37:g.7611407G>A	ENSP00000226091:p.Gly85Glu						p.G85E	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			2	651	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	85					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.254G>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	G	0.615	-0.823645	0.02755	.	.	ENSG00000108947	ENST00000226091	D	0.94862	-3.54	4.84	2.82	0.32997	Cupredoxin (2);	0.252771	0.34603	N	0.003821	D	0.84875	0.5569	N	0.17312	0.475	0.30413	N	0.778861	B	0.06786	0.001	B	0.09377	0.004	T	0.71642	-0.4531	10	0.02654	T	1	-1.5288	8.6214	0.33864	0.2542:0.0:0.7458:0.0	.	85	Q15768	EFNB3_HUMAN	E	85	ENSP00000226091:G85E	ENSP00000226091:G85E	G	+	2	0	EFNB3	7552132	0.792000	0.28813	0.996000	0.52242	0.362000	0.29581	1.458000	0.35223	0.619000	0.30197	0.579000	0.79373	GGG		0.627	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		57	54	0	0	0	1	0	57	54				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		7	131	0	0	0	1	0	7	131				
KLHL1	57626	broad.mit.edu	37	13	70681435	70681435	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:70681435T>C	ENST00000377844.4	-	1	1156	c.397A>G	c.(397-399)Atg>Gtg	p.M133V	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_Start_Codon_SNP_p.M1V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	133					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAAAGTCCATGCCTGGCACC	0.587																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(397-399)Atg>Gtg		kelch-like family member 1							110.0	88.0	95.0					13																	70681435		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681435T>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.397A>G	13.37:g.70681435T>C	ENSP00000367075:p.Met133Val					ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Start_Codon_SNP_p.M1V	p.M133V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1156	-		Breast(118;0.000162)	133					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.397A>G	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.367233	0.41902	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.72051	-0.62;-0.47	5.5	4.33	0.51752	.	0.243956	0.30028	N	0.010596	T	0.49355	0.1552	N	0.22421	0.69	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.01281	0.0;0.0	T	0.38650	-0.9651	10	0.02654	T	1	.	9.1126	0.36737	0.0:0.0823:0.0:0.9177	.	133;133	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	133;1	ENSP00000367075:M133V;ENSP00000439602:M1V	ENSP00000367075:M133V	M	-	1	0	KLHL1	69579436	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.863000	0.39459	0.927000	0.37143	0.533000	0.62120	ATG		0.587	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		84	31	0	0	0	1	0	84	31				
ALDH1L1	10840	broad.mit.edu	37	3	125826019	125826019	+	Silent	SNP	G	G	A	rs372361618		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:125826019G>A	ENST00000393434.2	-	21	2767	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.F705F|ALDH1L1_ENST00000472186.1_Silent_p.F806F|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.F816F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	806	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGACAGGCCCGAAGGACTCCT	0.512																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2416-2418)ttC>ttT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)	G		0,4406		0,0,2203	182.0	157.0	165.0		2418	-5.0	0.7	3		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALDH1L1	NM_012190.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		806/903	125826019	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125826019G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2418C>T	3.37:g.125826019G>A						ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.F816F|ALDH1L1_ENST00000472186.1_Silent_p.F806F|ALDH1L1_ENST00000452905.2_Silent_p.F705F	p.F806F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	21	2767	-			806			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2418C>T	CCDS3034.1																																																																																				0.512	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		56	336	0	0	0	1	0	56	336				
RAPGEF2	9693	broad.mit.edu	37	4	160277110	160277110	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:160277110C>T	ENST00000264431.4	+	23	4693	c.4274C>T	c.(4273-4275)cCg>cTg	p.P1425L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1425					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCCAGGAAACCGCCGGACTAC	0.612																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4273-4275)cCg>cTg		Rap guanine nucleotide exchange factor (GEF) 2							21.0	23.0	22.0					4																	160277110		1994	4163	6157	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277110C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4274C>T	4.37:g.160277110C>T	ENSP00000264431:p.Pro1425Leu						p.P1425L	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4693	+	all_hematologic(180;0.24)		1425					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4274C>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413610	0.62511	.	.	ENSG00000109756	ENST00000264431	T	0.71222	-0.55	5.56	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.81931	0.4927	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84155	0.0425	10	0.87932	D	0	.	16.5216	0.84318	0.0:0.8691:0.1309:0.0	.	1425	Q9Y4G8	RPGF2_HUMAN	L	1425	ENSP00000264431:P1425L	ENSP00000264431:P1425L	P	+	2	0	RAPGEF2	160496560	1.000000	0.71417	0.417000	0.26559	0.104000	0.19210	7.120000	0.77153	1.329000	0.45376	0.563000	0.77884	CCG		0.612	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		7	6	0	0	0	1	0	7	6				
ANKRD32	84250	broad.mit.edu	37	5	94024258	94024258	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:94024258T>C	ENST00000265140.5	+	17	2588	c.2169T>C	c.(2167-2169)tcT>tcC	p.S723S		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	723						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TGCTTGGGTCTGGAAAGATTC	0.378																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2167-2169)tcT>tcC		ankyrin repeat domain 32							106.0	108.0	107.0					5																	94024258		2203	4300	6503	SO:0001819	synonymous_variant	84250							g.chr5:94024258T>C	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2169T>C	5.37:g.94024258T>C							p.S723S	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	17	2588	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	723					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	c.2169T>C	CCDS4071.2																																																																																				0.378	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		34	58	0	0	0	1	0	34	58				
TMEM107	84314	broad.mit.edu	37	17	8077876	8077876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:8077876C>T	ENST00000437139.2	-	4	402	c.315G>A	c.(313-315)tgG>tgA	p.W105*	TMEM107_ENST00000316425.5_Nonsense_Mutation_p.W111*|SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.W111*|TMEM107_ENST00000449985.2_Intron|RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000532998.1_3'UTR	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	105					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						TAGTGCACTCCCAACGCTCGA	0.493																																						ENST00000316425.5																			0				large_intestine(1)|lung(4)|ovary(1)	6						c.(331-333)tgG>tgA		transmembrane protein 107							259.0	234.0	242.0					17																	8077876		2203	4300	6503	SO:0001587	stop_gained	84314					integral to membrane		g.chr17:8077876C>T	AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.315G>A	17.37:g.8077876C>T	ENSP00000402732:p.Trp105*					TMEM107_ENST00000437139.2_Nonsense_Mutation_p.W105*|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.W111*|TMEM107_ENST00000431792.2_Intron	p.W111*	NM_032354.3	NP_115730.2	Q6UX40	TM107_HUMAN			4	445	-			105					A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Nonsense_Mutation	SNP	ENST00000437139.2	37	c.333G>A	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872446	0.91587	.	.	ENSG00000179029	ENST00000437139;ENST00000533070;ENST00000316425	.	.	.	5.91	4.95	0.65309	.	0.164429	0.47455	D	0.000229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7928	0.46443	0.0:0.9137:0.0:0.0863	.	.	.	.	X	105;111;111	.	ENSP00000314116:W111X	W	-	3	0	TMEM107	8018601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.395000	0.73228	1.511000	0.48818	0.542000	0.68232	TGG		0.493	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388844.1	NM_032354		88	277	0	0	0	1	0	88	277				
WDR25	79446	broad.mit.edu	37	14	100995422	100995422	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:100995422C>T	ENST00000335290.6	+	6	1516	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000554998.1_Silent_p.P430P|WDR25_ENST00000402312.3_Silent_p.P430P|WDR25_ENST00000542471.2_Silent_p.P173P	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	430										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCACCTGCCCCAGCCTCGCCT	0.622																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1288-1290)ccC>ccT		WD repeat domain 25							74.0	57.0	63.0					14																	100995422		2203	4300	6503	SO:0001819	synonymous_variant	79446							g.chr14:100995422C>T	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1290C>T	14.37:g.100995422C>T						WDR25_ENST00000542471.2_Silent_p.P173P|WDR25_ENST00000402312.3_Silent_p.P430P|WDR25_ENST00000554998.1_Silent_p.P430P|WDR25_ENST00000557502.1_3'UTR	p.P430P	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			6	1516	+		Melanoma(154;0.212)	430					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	c.1290C>T	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	C	8.492	0.862238	0.17178	.	.	ENSG00000176473	ENST00000555201	T	0.26660	1.72	3.64	1.73	0.24493	.	0.000000	0.85682	U	0.000000	T	0.26521	0.0648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02546	-1.1143	6	.	.	.	.	6.8909	0.24228	0.0:0.555:0.3417:0.1033	.	.	.	.	L	38	ENSP00000452235:P38L	.	P	+	2	0	WDR25	100065175	0.985000	0.35326	1.000000	0.80357	0.960000	0.62799	0.180000	0.16860	0.848000	0.35191	-0.302000	0.09304	CCA		0.622	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		21	82	0	0	0	1	0	21	82				
C9orf91	203197	broad.mit.edu	37	9	117399306	117399306	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:117399306C>A	ENST00000288502.4	+	7	1059	c.622C>A	c.(622-624)Cag>Aag	p.Q208K	C9orf91_ENST00000374049.4_Missense_Mutation_p.Q209K			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	208						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAACTGTGTGCAGTTTTTGTC	0.468																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(625-627)Cag>Aag		chromosome 9 open reading frame 91							167.0	141.0	150.0					9																	117399306		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117399306C>A	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.622C>A	9.37:g.117399306C>A	ENSP00000288502:p.Gln208Lys					C9orf91_ENST00000288502.4_Missense_Mutation_p.Q208K	p.Q209K	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			7	1062	+			208					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.625C>A	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140954	0.56936	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.76	5.76	0.90799	.	0.131854	0.52532	D	0.000074	T	0.51839	0.1698	L	0.42245	1.32	0.40415	D	0.979788	P;P	0.40731	0.728;0.728	B;B	0.39339	0.297;0.297	T	0.53201	-0.8472	9	0.38643	T	0.18	-21.2708	15.4858	0.75564	0.0:1.0:0.0:0.0	.	187;208	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	K	209;208	.	ENSP00000288502:Q208K	Q	+	1	0	C9orf91	116439127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.809000	0.38922	2.706000	0.92434	0.655000	0.94253	CAG		0.468	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		32	84	1	0	6.00712e-18	1	6.84812e-18	32	84				
RSPH1	89765	broad.mit.edu	37	21	43897434	43897434	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:43897434C>T	ENST00000291536.3	-	7	861	c.694G>A	c.(694-696)Gat>Aat	p.D232N	RSPH1_ENST00000398352.3_Missense_Mutation_p.D194N	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	232					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCAGGTCCATCCGTAGAGGTC	0.597																																					Esophageal Squamous(23;63 706 6286 10288 12913)	ENST00000291536.3																			0				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						c.(694-696)Gat>Aat		radial spoke head 1 homolog (Chlamydomonas)							211.0	189.0	197.0					21																	43897434		2203	4300	6503	SO:0001583	missense	89765				meiosis	cytosol|nucleus		g.chr21:43897434C>T	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.694G>A	21.37:g.43897434C>T	ENSP00000291536:p.Asp232Asn					RSPH1_ENST00000398352.3_Missense_Mutation_p.D194N	p.D232N	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN			7	861	-			232					A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	c.694G>A	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503560	0.44558	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.58506	0.36;0.33	4.3	4.3	0.51218	.	2.111270	0.02528	N	0.093312	T	0.54464	0.1860	L	0.40543	1.245	0.09310	N	1	B	0.30482	0.281	B	0.30179	0.112	T	0.44345	-0.9334	10	0.19590	T	0.45	.	14.6523	0.68805	0.0:1.0:0.0:0.0	.	232	Q8WYR4	RSPH1_HUMAN	N	232;194	ENSP00000291536:D232N;ENSP00000381395:D194N	ENSP00000291536:D232N	D	-	1	0	RSPH1	42770503	0.006000	0.16342	0.016000	0.15963	0.003000	0.03518	1.961000	0.40432	2.139000	0.66308	0.655000	0.94253	GAT		0.597	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			25	47	0	0	0	1	0	25	47				
KIF21A	55605	broad.mit.edu	37	12	39763954	39763954	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:39763954C>A	ENST00000361418.5	-	2	169	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	KIF21A_ENST00000541463.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.D52Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D52Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	52	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATACATAGTCAAAAGTAAAA	0.388																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(154-156)Gac>Tac		kinesin family member 21A							121.0	118.0	119.0					12																	39763954		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763954C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.154G>T	12.37:g.39763954C>A	ENSP00000354878:p.Asp52Tyr					KIF21A_ENST00000361418.5_Missense_Mutation_p.D52Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D52Y	p.D52Y			Q7Z4S6	KI21A_HUMAN			2	573	-		Lung NSC(34;0.179)|all_lung(34;0.213)	52			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.154G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385326	0.82792	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.47	5.47	0.80525	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000082	D	0.94653	0.8276	H	0.96720	3.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.995;1.0;0.998	D	0.95936	0.8942	10	0.87932	D	0	.	19.7266	0.96166	0.0:1.0:0.0:0.0	.	52;52;52;52;52	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	Y	52	ENSP00000354851:D52Y;ENSP00000379029:D52Y;ENSP00000445606:D52Y;ENSP00000354878:D52Y;ENSP00000438075:D52Y	ENSP00000344501:D52Y	D	-	1	0	KIF21A	38050221	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.543000	0.82106	2.732000	0.93576	0.650000	0.86243	GAC		0.388	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		40	118	1	0	2.87052e-16	1	3.24642e-16	40	118				
ZNF606	80095	broad.mit.edu	37	19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1771-1773)aCg>aTg		zinc finger protein 606							90.0	88.0	89.0					19																	58490276		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490276G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1772C>T	19.37:g.58490276G>A	ENSP00000343617:p.Thr591Met					ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	p.T591M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2392	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	591					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1772C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647444	0.47258	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134588	0.34676	N	0.003775	T	0.53530	0.1802	M	0.79926	2.475	0.46416	D	0.999034	D	0.89917	1.0	D	0.68765	0.96	T	0.58973	-0.7541	10	0.87932	D	0	.	17.3812	0.87405	0.0:0.0:1.0:0.0	.	591	Q8WXB4	ZN606_HUMAN	M	591;501	ENSP00000343617:T591M;ENSP00000445624:T501M	ENSP00000343617:T591M	T	-	2	0	ZNF606	63182088	0.994000	0.37717	0.995000	0.50966	0.976000	0.68499	2.147000	0.42226	2.706000	0.92434	0.561000	0.74099	ACG		0.418	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		94	106	0	0	0	1	0	94	106				
C1orf85	112770	broad.mit.edu	37	1	156263268	156263268	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:156263268A>G	ENST00000362007.1	-	5	924	c.898T>C	c.(898-900)Tgc>Cgc	p.C300R	C1orf85_ENST00000482579.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	300					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GAAGCTTGGCAGGGCAGGGCT	0.582																																						ENST00000362007.1																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.(898-900)Tgc>Cgc		chromosome 1 open reading frame 85							79.0	89.0	85.0					1																	156263268		2203	4300	6503	SO:0001583	missense	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156263268A>G	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.898T>C	1.37:g.156263268A>G	ENSP00000354553:p.Cys300Arg					C1orf85_ENST00000368264.1_3'UTR|C1orf85_ENST00000472870.1_Intron	p.C300R	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN			5	924	-	Hepatocellular(266;0.158)		300					A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	ENST00000362007.1	37	c.898T>C	CCDS1139.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.847865	0.71603	.	.	ENSG00000198715	ENST00000362007	T	0.23950	1.88	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42344	-0.9457	10	0.87932	D	0	-1.4738	11.7095	0.51616	1.0:0.0:0.0:0.0	.	219;300	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	R	300	ENSP00000354553:C300R	ENSP00000354553:C300R	C	-	1	0	C1orf85	154529892	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.033000	0.57282	2.263000	0.75096	0.379000	0.24179	TGC		0.582	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		11	34	0	0	0	1	0	11	34				
ZNF611	81856	broad.mit.edu	37	19	53208648	53208648	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53208648C>T	ENST00000319783.1	-	7	1976	c.1660G>A	c.(1660-1662)Gca>Aca	p.A554T	ZNF611_ENST00000453741.2_Missense_Mutation_p.A485T|ZNF611_ENST00000543227.1_Missense_Mutation_p.A554T|ZNF611_ENST00000602162.1_Missense_Mutation_p.A485T|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.A554T|ZNF611_ENST00000595798.1_Missense_Mutation_p.A485T	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A554S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTATGTTTTGCCAGATAGGAA	0.403																																						ENST00000543227.1																			1	Substitution - Missense(1)	p.A554S(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1660-1662)Gca>Aca		zinc finger protein 611							191.0	189.0	189.0					19																	53208648		2203	4297	6500	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208648C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1660G>A	19.37:g.53208648C>T	ENSP00000322427:p.Ala554Thr					ZNF611_ENST00000319783.1_Missense_Mutation_p.A554T|ZNF611_ENST00000595798.1_Missense_Mutation_p.A485T|ZNF611_ENST00000602162.1_Missense_Mutation_p.A485T|ZNF611_ENST00000540744.1_Missense_Mutation_p.A554T|ZNF611_ENST00000453741.2_Missense_Mutation_p.A485T	p.A554T	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1934	-			554					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1660G>A	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	1.088	-0.664934	0.03428	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.16743	2.32;2.32;3.14;2.32	1.27	-0.0743	0.13731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	N	0.16066	0.365	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.41520	-0.9504	9	0.02654	T	1	.	4.8769	0.13660	0.0:0.6215:0.0:0.3785	.	554	Q8N823	ZN611_HUMAN	T	554;554;485;554	ENSP00000437616:A554T;ENSP00000439211:A554T;ENSP00000443505:A485T;ENSP00000322427:A554T	ENSP00000322427:A554T	A	-	1	0	ZNF611	57900460	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-6.871000	0.00051	-0.179000	0.10654	0.306000	0.20318	GCA		0.403	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		5	401	0	0	0	1	0	5	401				
ASTE1	28990	broad.mit.edu	37	3	130737546	130737546	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:130737546C>T	ENST00000264992.3	-	4	1758	c.1317G>A	c.(1315-1317)agG>agA	p.R439R	ASTE1_ENST00000514044.1_Silent_p.R439R	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	439					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GCATCTGCCGCCTCCTCAAGG	0.433																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(1315-1317)agG>agA		asteroid homolog 1 (Drosophila)							64.0	66.0	65.0					3																	130737546		2203	4300	6503	SO:0001819	synonymous_variant	28990				DNA repair		nuclease activity	g.chr3:130737546C>T	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1317G>A	3.37:g.130737546C>T						ASTE1_ENST00000514044.1_Silent_p.R439R	p.R439R	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			4	1758	-			439					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	ENST00000264992.3	37	c.1317G>A	CCDS3068.1																																																																																				0.433	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		17	79	0	0	0	1	0	17	79				
IGKV1D-16	28901	broad.mit.edu	37	2	90139484	90139484	+	RNA	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:90139484C>A	ENST00000492446.1	+	0	282									immunoglobulin kappa variable 1D-16																		CAAGGTTCAGCGGCAGTGGAT	0.498																																						ENST00000492446.1																			0																				83.0	87.0	85.0					2																	90139484		1837	4072	5909			28901							g.chr2:90139484C>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139484C>A														0	282	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.498	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		94	160	1	0	5.4523e-64	1	6.58435e-64	94	160				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	34	0	0	0	1	0	4	34				
BCKDK	10295	broad.mit.edu	37	16	31120604	31120604	+	Silent	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:31120604C>A	ENST00000394951.1	+	3	683	c.60C>A	c.(58-60)ctC>ctA	p.L20L	BCKDK_ENST00000219794.6_Silent_p.L20L|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Silent_p.L20L|BCKDK_ENST00000287507.3_Silent_p.L20L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	20					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TCCGGCCCCTCCTGGGACCCG	0.697																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(58-60)ctC>ctA		branched chain ketoacid dehydrogenase kinase							11.0	13.0	12.0					16																	31120604		2176	4276	6452	SO:0001819	synonymous_variant	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31120604C>A	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.60C>A	16.37:g.31120604C>A						BCKDK_ENST00000394950.3_Silent_p.L20L|BCKDK_ENST00000287507.3_Silent_p.L20L|BCKDK_ENST00000219794.6_Silent_p.L20L|AC135050.1_ENST00000517000.2_RNA	p.L20L			O14874	BCKD_HUMAN			3	683	+			20					A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	ENST00000394951.1	37	c.60C>A	CCDS10705.1																																																																																				0.697	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		4	18	1	0	0.184627	1	0.185277	4	18				
CDHR2	54825	broad.mit.edu	37	5	176012980	176012980	+	Silent	SNP	C	C	T	rs114350001		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:176012980C>T	ENST00000510636.1	+	20	3034	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	CDHR2_ENST00000261944.5_Silent_p.D920D|CDHR2_ENST00000506348.1_Silent_p.D920D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	920	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCATTGAGGACGTGAATGACA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		14652	0.0		0.001	False		,,,				2504	0.0					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2758-2760)gaC>gaT		cadherin-related family member 2							123.0	109.0	114.0					5																	176012980		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176012980C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2760C>T	5.37:g.176012980C>T						CDHR2_ENST00000261944.5_Silent_p.D920D|CDHR2_ENST00000506348.1_Silent_p.D920D	p.D920D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			20	3034	+			920			Cadherin 8.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2760C>T	CCDS34297.1																																																																																				0.522	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		29	94	0	0	0	1	0	29	94				
ARHGAP4	393	broad.mit.edu	37	X	153176046	153176046	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:153176046C>G	ENST00000350060.5	-	16	1877	c.1836G>C	c.(1834-1836)gaG>gaC	p.E612D	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E591D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.E652D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E434D|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E589D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	612	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCACCCTCTCCGCTGTGG	0.701																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1954-1956)gaG>gaC		Rho GTPase activating protein 4							9.0	13.0	12.0					X																	153176046		2123	4176	6299	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153176046C>G	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1836G>C	X.37:g.153176046C>G	ENSP00000203786:p.Glu612Asp					ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E589D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E434D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E591D|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.E612D	p.E652D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			17	2013	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		612			Rho-GAP.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1956G>C	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.126|2.126	-0.400327|-0.400327	0.04865|0.04865	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000454164;ENST00000442172	T;T;T;T;T|.	0.21361|.	2.01;2.01;2.01;2.01;2.01|.	4.22|4.22	1.31|1.31	0.21738|0.21738	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|.	0.41712|.	D|.	0.000823|.	T|T	0.36936|0.36936	0.0985|0.0985	L|L	0.50847|0.50847	1.595|1.595	0.21147|0.21147	N|N	0.999779|0.999779	B;B|.	0.27971|.	0.196;0.024|.	B;B|.	0.32090|.	0.14;0.089|.	T|T	0.28427|0.28427	-1.0044|-1.0044	10|5	0.37606|.	T|.	0.19|.	.|.	4.2145|4.2145	0.10528|0.10528	0.0:0.3893:0.3535:0.2572|0.0:0.3893:0.3535:0.2572	.|.	652;612|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	D|T	434;652;612;591;589|112;101	ENSP00000377322:E434D;ENSP00000359045:E652D;ENSP00000203786:E612D;ENSP00000359033:E591D;ENSP00000444169:E589D|.	ENSP00000203786:E612D|.	E|R	-|-	3|2	2|0	ARHGAP4|ARHGAP4	152829240|152829240	0.044000|0.044000	0.20184|0.20184	0.007000|0.007000	0.13788|0.13788	0.005000|0.005000	0.04900|0.04900	0.422000|0.422000	0.21296|0.21296	0.273000|0.273000	0.22049|0.22049	-0.223000|-0.223000	0.12442|0.12442	GAG|AGA		0.701	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		9	9	0	0	0	1	0	9	9				
MTMR7	9108	broad.mit.edu	37	8	17206556	17206556	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:17206556G>C	ENST00000180173.5	-	5	537	c.503C>G	c.(502-504)cCc>cGc	p.P168R	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.P168R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	168	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GGCCGATTTGGGAACGTACAG	0.453																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(502-504)cCc>cGc		myotubularin related protein 7							121.0	116.0	118.0					8																	17206556		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17206556G>C	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.503C>G	8.37:g.17206556G>C	ENSP00000180173:p.Pro168Arg					MTMR7_ENST00000521857.1_Missense_Mutation_p.P168R|MTMR7_ENST00000523571.1_5'UTR	p.P168R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	5	537	-			168			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.503C>G	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527494	0.85706	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.99080	-5.4;-5.4	5.24	5.24	0.73138	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97274	0.9913	10	0.87932	D	0	.	19.719	0.96135	0.0:0.0:1.0:0.0	.	168	Q9Y216	MTMR7_HUMAN	R	168	ENSP00000180173:P168R;ENSP00000429733:P168R	ENSP00000180173:P168R	P	-	2	0	MTMR7	17250927	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.314000	0.96306	2.828000	0.97474	0.655000	0.94253	CCC		0.453	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		38	102	0	0	0	1	0	38	102				
SHBG	6462	broad.mit.edu	37	17	7534049	7534049	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7534049T>C	ENST00000380450.4	+	3	286	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000576728.1_Silent_p.F27F|SHBG_ENST00000441599.2_Silent_p.F85F|SHBG_ENST00000340624.5_Silent_p.F27F|SAT2_ENST00000269298.5_5'Flank|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000572262.1_Silent_p.F27F|SHBG_ENST00000574539.1_Silent_p.F27F|SHBG_ENST00000416273.3_Silent_p.F85F|SHBG_ENST00000575903.1_Silent_p.F85F|SHBG_ENST00000576478.1_Silent_p.F27F|SHBG_ENST00000572182.1_Silent_p.F27F|SHBG_ENST00000570547.1_Silent_p.F27F|SHBG_ENST00000575314.1_Silent_p.F27F	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	85	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GAGTGATTTTTTATGGGGATA	0.512																																						ENST00000380450.4																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(253-255)ttT>ttC		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						81.0	75.0	77.0					17																	7534049		2203	4300	6503	SO:0001819	synonymous_variant	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7534049T>C		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.255T>C	17.37:g.7534049T>C						SHBG_ENST00000576478.1_Silent_p.F27F|SHBG_ENST00000416273.3_Silent_p.F85F|SHBG_ENST00000570547.1_Silent_p.F27F|SHBG_ENST00000575903.1_Silent_p.F85F|SHBG_ENST00000340624.5_Silent_p.F27F|SHBG_ENST00000441599.2_Silent_p.F85F|SHBG_ENST00000575314.1_Silent_p.F27F|SHBG_ENST00000576728.1_Silent_p.F27F|SHBG_ENST00000574539.1_Silent_p.F27F|SHBG_ENST00000572182.1_Silent_p.F27F|SHBG_ENST00000572262.1_Silent_p.F27F	p.F85F	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	3	286	+		all_cancers(10;0.0867)	85			Laminin G-like 1.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	c.255T>C	CCDS11117.1																																																																																				0.512	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		7	114	0	0	0	1	0	7	114				
KDM4A	9682	broad.mit.edu	37	1	44133692	44133692	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:44133692T>C	ENST00000372396.3	+	9	1297		c.e9+2			NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A						cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGACAAGGTAACCCAGCAG	0.532																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.e9+2		lysine (K)-specific demethylase 4A							180.0	175.0	177.0					1																	44133692		2203	4300	6503	SO:0001630	splice_region_variant	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44133692T>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1163+2T>C	1.37:g.44133692T>C								NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			9	1297	+								Q5VVB1	Splice_Site	SNP	ENST00000372396.3	37		CCDS491.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865039	0.71949	.	.	ENSG00000066135	ENST00000372396	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3457	0.60571	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM4A	43906279	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	2.622000	0.46427	2.029000	0.59856	0.454000	0.30748	.		0.532	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	Intron	138	61	0	0	0	1	0	138	61				
DNAH1	25981	broad.mit.edu	37	3	52384124	52384124	+	Splice_Site	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:52384124G>T	ENST00000420323.2	+	15	2907	c.2646G>T	c.(2644-2646)gaG>gaT	p.E882D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	882	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGGCCTGGAGGTGAGGCAGG	0.652																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e15+1		dynein, axonemal, heavy chain 1							22.0	27.0	25.0					3																	52384124		2100	4221	6321	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52384124G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2646+1G>T	3.37:g.52384124G>T							p.E882_splice	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	15	2907	+			882			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37	c.2646_splice	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791451	0.50102	.	.	ENSG00000114841	ENST00000420323	T	0.25085	1.82	5.34	5.34	0.76211	.	0.129559	0.34411	N	0.003982	T	0.26557	0.0649	L	0.47078	1.49	0.80722	D	1	B;B	0.18610	0.001;0.029	B;B	0.22152	0.002;0.038	T	0.06499	-1.0823	10	0.16896	T	0.51	.	19.0383	0.92987	0.0:0.0:1.0:0.0	.	882;882	C9JXH6;Q9P2D7-3	.;.	D	882	ENSP00000401514:E882D	ENSP00000401514:E882D	E	+	3	2	DNAH1	52359164	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.402000	0.66332	2.497000	0.84241	0.655000	0.94253	GAG		0.652	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Missense_Mutation	11	10	1	0	3.07112e-06	1	3.27816e-06	11	10				
PCDH20	64881	broad.mit.edu	37	13	61987012	61987012	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:61987012G>A	ENST00000409186.1	-	5	3325	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	PCDH20_ENST00000409204.4_Missense_Mutation_p.P407L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	407	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GATTACAGCAGGGATGCAGCC	0.428																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1219-1221)cCt>cTt		protocadherin 20							101.0	102.0	101.0					13																	61987012		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987012G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1220C>T	13.37:g.61987012G>A	ENSP00000386653:p.Pro407Leu					PCDH20_ENST00000409204.4_Missense_Mutation_p.P407L	p.P407L			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3325	-		Breast(118;0.195)|Prostate(109;0.229)	380			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1220C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752863	0.69648	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60672	0.17;0.17	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000006	T	0.79257	0.4415	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79732	-0.1680	10	0.62326	D	0.03	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	407	A8K1K9	.	L	407;407;153	ENSP00000387250:P407L;ENSP00000386653:P407L	ENSP00000351500:P153L	P	-	2	0	PCDH20	60885013	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.785000	0.99042	2.808000	0.96608	0.650000	0.86243	CCT		0.428	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		23	115	0	0	0	1	0	23	115				
TRAM1	23471	broad.mit.edu	37	8	71508497	71508497	+	Splice_Site	SNP	C	C	T	rs556123107		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:71508497C>T	ENST00000262213.2	-	5	655		c.e5+1		TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site|TRAM1_ENST00000521425.1_Splice_Site	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAATGACTTACGTCATCAGGT	0.368													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17921	0.0		0.0	False		,,,				2504	0.0				Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.e5+1		translocation associated membrane protein 1							130.0	130.0	130.0					8																	71508497		2203	4300	6503	SO:0001630	splice_region_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71508497C>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.485+1G>A	8.37:g.71508497C>T						TRAM1_ENST00000536748.1_Splice_Site|TRAM1_ENST00000262213.2_Splice_Site|TRAM1_ENST00000521049.1_Intron				Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		5	1264	-								B4E0K2	Splice_Site	SNP	ENST00000262213.2	37		CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827968	0.90955	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAM1	71671051	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.999000	0.76283	2.890000	0.99128	0.585000	0.79938	.		0.368	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	Intron	79	107	0	0	0	1	0	79	107				
MYH6	4624	broad.mit.edu	37	14	23855803	23855803	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:23855803G>T	ENST00000356287.3	-	32	4709	c.4680C>A	c.(4678-4680)atC>atA	p.I1560I	MYH6_ENST00000405093.3_Silent_p.I1560I|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1560					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGCCCGGAGGATCTTGCCCT	0.632																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4678-4680)atC>atA		myosin, heavy chain 6, cardiac muscle, alpha							116.0	122.0	120.0					14																	23855803		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855803G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4680C>A	14.37:g.23855803G>T						MYH6_ENST00000356287.3_Silent_p.I1560I	p.I1560I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4750	-	all_cancers(95;2.54e-05)		1560					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4680C>A	CCDS9600.1																																																																																				0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			31	199	1	0	8.88839e-20	1	1.02558e-19	31	199				
UAP1	6675	broad.mit.edu	37	1	162549382	162549382	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:162549382C>A	ENST00000367925.1	+	3	682	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	UAP1_ENST00000367926.4_Missense_Mutation_p.S217Y|UAP1_ENST00000271469.3_Missense_Mutation_p.S217Y|UAP1_ENST00000367924.1_Missense_Mutation_p.S217Y			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	217					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACAAAGTTTCTATGGCTCCA	0.318																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(649-651)tCt>tAt		UDP-N-acteylglucosamine pyrophosphorylase 1							63.0	67.0	66.0					1																	162549382		2197	4300	6497	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162549382C>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.650C>A	1.37:g.162549382C>A	ENSP00000356902:p.Ser217Tyr					UAP1_ENST00000367925.1_Missense_Mutation_p.S217Y|UAP1_ENST00000367926.4_Missense_Mutation_p.S217Y|UAP1_ENST00000367924.1_Missense_Mutation_p.S217Y	p.S217Y			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		4	952	+	all_hematologic(112;0.115)		217					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.650C>A		.	.	.	.	.	.	.	.	.	.	C	28.2	4.895516	0.91962	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.38	5.38	0.77491	.	0.103719	0.64402	D	0.000002	T	0.34600	0.0903	L	0.58810	1.83	0.40928	D	0.984362	D	0.65815	0.995	D	0.66084	0.941	T	0.10109	-1.0644	9	0.87932	D	0	-16.8158	17.7307	0.88376	0.0:1.0:0.0:0.0	.	217	Q16222-2	.	Y	217	ENSP00000395648:S217Y;ENSP00000356903:S217Y;ENSP00000271469:S217Y;ENSP00000356902:S217Y;ENSP00000356901:S217Y	ENSP00000271469:S217Y	S	+	2	0	UAP1	160816006	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.338000	0.79269	2.515000	0.84797	0.655000	0.94253	TCT		0.318	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		56	41	1	0	4.88506e-25	1	5.72939e-25	56	41				
IFT80	57560	broad.mit.edu	37	3	160000392	160000392	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:160000392A>C	ENST00000326448.7	-	14	1822	c.1390T>G	c.(1390-1392)Ttg>Gtg	p.L464V	IFT80_ENST00000483465.1_Missense_Mutation_p.L327V|IFT80_ENST00000496589.1_Missense_Mutation_p.L327V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L635V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	464					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCAATTTCCAAGATTTCATTC	0.259																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1390-1392)Ttg>Gtg		intraflagellar transport 80 homolog (Chlamydomonas)							36.0	40.0	39.0					3																	160000392		2188	4272	6460	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160000392A>C	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1390T>G	3.37:g.160000392A>C	ENSP00000312778:p.Leu464Val					IFT80_ENST00000496589.1_Missense_Mutation_p.L327V|IFT80_ENST00000483465.1_Missense_Mutation_p.L327V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L635V	p.L464V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		14	1822	-			464					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.1390T>G	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	A	3.402	-0.121963	0.06795	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.70749	2.3;-0.51;-0.51	5.61	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.456221	0.16700	U	0.203197	T	0.44561	0.1299	N	0.11131	0.1	0.30547	N	0.765823	B	0.06786	0.001	B	0.06405	0.002	T	0.35276	-0.9795	10	0.10902	T	0.67	.	6.6009	0.22701	0.5444:0.1304:0.0:0.3252	.	464	Q9P2H3	IFT80_HUMAN	V	464;327;327	ENSP00000312778:L464V;ENSP00000418196:L327V;ENSP00000420646:L327V	ENSP00000312778:L464V	L	-	1	2	IFT80	161483086	0.970000	0.33590	0.998000	0.56505	0.998000	0.95712	0.463000	0.21972	0.938000	0.37419	0.482000	0.46254	TTG		0.259	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		28	142	0	0	0	1	0	28	142				
SHBG	6462	broad.mit.edu	37	17	7534051	7534051	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7534051A>T	ENST00000380450.4	+	3	288	c.257A>T	c.(256-258)tAt>tTt	p.Y86F	SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000576728.1_Missense_Mutation_p.Y28F|SHBG_ENST00000441599.2_Missense_Mutation_p.Y86F|SHBG_ENST00000340624.5_Missense_Mutation_p.Y28F|SAT2_ENST00000269298.5_5'Flank|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000572262.1_Missense_Mutation_p.Y28F|SHBG_ENST00000574539.1_Missense_Mutation_p.Y28F|SHBG_ENST00000416273.3_Missense_Mutation_p.Y86F|SHBG_ENST00000575903.1_Missense_Mutation_p.Y86F|SHBG_ENST00000576478.1_Missense_Mutation_p.Y28F|SHBG_ENST00000572182.1_Missense_Mutation_p.Y28F|SHBG_ENST00000570547.1_Missense_Mutation_p.Y28F|SHBG_ENST00000575314.1_Missense_Mutation_p.Y28F	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	86	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GTGATTTTTTATGGGGATACC	0.512																																						ENST00000380450.4																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(256-258)tAt>tTt		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						84.0	78.0	80.0					17																	7534051		2203	4300	6503	SO:0001583	missense	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7534051A>T		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.257A>T	17.37:g.7534051A>T	ENSP00000369816:p.Tyr86Phe					SHBG_ENST00000576478.1_Missense_Mutation_p.Y28F|SHBG_ENST00000416273.3_Missense_Mutation_p.Y86F|SHBG_ENST00000570547.1_Missense_Mutation_p.Y28F|SHBG_ENST00000575903.1_Missense_Mutation_p.Y86F|SHBG_ENST00000340624.5_Missense_Mutation_p.Y28F|SHBG_ENST00000441599.2_Missense_Mutation_p.Y86F|SHBG_ENST00000575314.1_Missense_Mutation_p.Y28F|SHBG_ENST00000576728.1_Missense_Mutation_p.Y28F|SHBG_ENST00000574539.1_Missense_Mutation_p.Y28F|SHBG_ENST00000572182.1_Missense_Mutation_p.Y28F|SHBG_ENST00000572262.1_Missense_Mutation_p.Y28F	p.Y86F	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	3	288	+		all_cancers(10;0.0867)	86			Laminin G-like 1.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	c.257A>T	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989966	0.74589	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.04	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	L	0.54323	1.7	0.45899	D	0.998742	D;D;D;P;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.95;0.999;0.999;0.999;1.0;0.998;1.0;1.0	D;D;D;P;D;D;D;D;D;D;D	0.87578	0.996;0.996;0.996;0.899;0.996;0.996;0.996;0.998;0.959;0.998;0.998	D	0.84458	0.0592	10	0.32370	T	0.25	-6.3745	12.7288	0.57187	1.0:0.0:0.0:0.0	.	86;81;59;86;86;86;59;59;59;86;28	F5H5Z8;P04278-2;B0FWH6;E9PH59;E9PGW1;E9PGQ3;B0FWH7;B0FWH5;B0FWH4;P04278;B4DYU0	.;.;.;.;.;.;.;.;.;SHBG_HUMAN;.	F	28;86;86;86;86;86	ENSP00000345675:Y28F;ENSP00000393426:Y86F;ENSP00000388867:Y86F;ENSP00000369816:Y86F	ENSP00000345675:Y28F	Y	+	2	0	SHBG	7474776	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.689000	0.54706	1.908000	0.55244	0.459000	0.35465	TAT		0.512	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		7	118	0	0	0	1	0	7	118				
KCNA2	3737	broad.mit.edu	37	1	111147088	111147088	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:111147088A>G	ENST00000485317.1	-	3	990	c.317T>C	c.(316-318)tTa>tCa	p.L106S	KCNA2_ENST00000316361.4_Missense_Mutation_p.L106S|KCNA2_ENST00000369770.3_Missense_Mutation_p.L106S|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.L106S			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	106					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	GAATATATCTAAGGGCACATT	0.473																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(316-318)tTa>tCa		potassium voltage-gated channel, shaker-related subfamily, member 2							42.0	44.0	44.0					1																	111147088		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147088A>G	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.317T>C	1.37:g.111147088A>G	ENSP00000433109:p.Leu106Ser					KCNA2_ENST00000369770.3_Missense_Mutation_p.L106S|KCNA2_ENST00000440270.1_Missense_Mutation_p.L106S|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.L106S	p.L106S			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	990	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	106					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.317T>C	CCDS827.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420414	0.62622	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	6.02	6.02	0.97574	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.155531	0.43416	D	0.000579	T	0.80232	0.4585	L	0.55213	1.73	0.80722	D	1	P;D	0.53619	0.855;0.961	P;P	0.57620	0.626;0.824	T	0.82908	-0.0224	10	0.87932	D	0	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	106;106	Q86XG6;P16389	.;KCNA2_HUMAN	S	106	ENSP00000358785:L106S;ENSP00000433109:L106S;ENSP00000415257:L106S;ENSP00000314520:L106S	ENSP00000314520:L106S	L	-	2	0	KCNA2	110948611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.311000	0.77944	0.533000	0.62120	TTA		0.473	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		3	35	0	0	0	1	0	3	35				
LRRC4C	57689	broad.mit.edu	37	11	40136232	40136232	+	Silent	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:40136232T>A	ENST00000278198.2	-	2	3574	c.1611A>T	c.(1609-1611)acA>acT	p.T537T	LRRC4C_ENST00000530763.1_Silent_p.T537T|LRRC4C_ENST00000527150.1_Silent_p.T537T|LRRC4C_ENST00000528697.1_Silent_p.T537T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	537					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAGCCATGAGTGTGATGGCCA	0.453																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1609-1611)acA>acT		leucine rich repeat containing 4C							154.0	134.0	141.0					11																	40136232		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136232T>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1611A>T	11.37:g.40136232T>A						LRRC4C_ENST00000528697.1_Silent_p.T537T|LRRC4C_ENST00000527150.1_Silent_p.T537T|LRRC4C_ENST00000530763.1_Silent_p.T537T	p.T537T			Q9HCJ2	LRC4C_HUMAN			2	3574	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	537					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1611A>T	CCDS31464.1																																																																																				0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		8	85	0	0	0	1	0	8	85				
PRB1	5542	broad.mit.edu	37	12	11506762	11506762	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:11506762G>C	ENST00000500254.2	-	3	312	c.275C>G	c.(274-276)tCt>tGt	p.S92C	PRB1_ENST00000545626.1_Missense_Mutation_p.S92C|PRB1_ENST00000546254.1_Missense_Mutation_p.S92C	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	153	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGAGATCGGGGACT	0.617																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(274-276)tCt>tGt		proline-rich protein BstNI subfamily 1							174.0	217.0	203.0					12																	11506762		2161	4276	6437	SO:0001583	missense	5542					extracellular region		g.chr12:11506762G>C		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.275C>G	12.37:g.11506762G>C	ENSP00000420826:p.Ser92Cys					PRB1_ENST00000545626.1_Missense_Mutation_p.S92C|PRB1_ENST00000546254.1_Missense_Mutation_p.S92C	p.S92C	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	312	-			275			15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.275C>G	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	4.225	0.040695	0.08196	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04809	3.72;3.55;3.55	1.32	0.339	0.15979	.	.	.	.	.	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	P;P;P	0.50272	0.933;0.933;0.933	B;B;B	0.37550	0.253;0.253;0.253	T	0.42999	-0.9418	9	0.72032	D	0.01	.	2.028	0.03523	0.2051:0.0:0.4748:0.3202	.	99;92;92	Q86YA1;G3V1R1;G3V1M9	.;.;.	C	92	ENSP00000444249:S92C;ENSP00000420826:S92C;ENSP00000442127:S92C	ENSP00000420826:S92C	S	-	2	0	PRB1	11398029	0.541000	0.26417	0.001000	0.08648	0.025000	0.11179	-0.229000	0.09098	0.135000	0.18707	-0.889000	0.02933	TCT		0.617	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		219	783	0	0	0	1	0	219	783				
MED20	9477	broad.mit.edu	37	6	41884614	41884614	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:41884614C>T	ENST00000265350.4	-	2	158	c.78G>A	c.(76-78)cgG>cgA	p.R26R	Y_RNA_ENST00000384641.1_RNA|MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_Silent_p.R26R|MED20_ENST00000409060.1_Silent_p.R26R	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	26					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCAATTTCCGGGTAAGGA	0.537																																						ENST00000265350.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5						c.(76-78)cgG>cgA		mediator complex subunit 20							133.0	110.0	117.0					6																	41884614		2203	4300	6503	SO:0001819	synonymous_variant	9477				regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding	g.chr6:41884614C>T	AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.78G>A	6.37:g.41884614C>T						MED20_ENST00000409060.1_Silent_p.R26R|MED20_ENST00000409312.1_Silent_p.R26R|MED20_ENST00000467535.1_5'UTR	p.R26R	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	158	-	Colorectal(47;0.121)		26					B4DE08|O95821|Q5T8J4|Q9Y429	Silent	SNP	ENST00000265350.4	37	c.78G>A	CCDS4862.1																																																																																				0.537	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040539.1	NM_004275		18	62	0	0	0	1	0	18	62				
C7	730	broad.mit.edu	37	5	40958310	40958310	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40958310C>T	ENST00000313164.9	+	11	1795	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	479	EGF-like.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.P479Q(1)					Ovarian(839;0.0112)				CATTGCAAACCGTACACATTT	0.507																																						ENST00000313164.9																			1	Substitution - Missense(1)	p.P479Q(1)	lung(1)								c.(1435-1437)cCg>cTg		complement component 7							140.0	138.0	139.0					5																	40958310		2008	4168	6176	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40958310C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1436C>T	5.37:g.40958310C>T	ENSP00000322061:p.Pro479Leu						p.P479L	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			11	1795	+		Ovarian(839;0.0112)	479			EGF-like.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1436C>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796962	0.90453	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.63580	-0.05	5.87	5.87	0.94306	.	0.060526	0.64402	D	0.000002	T	0.71929	0.3398	L	0.43598	1.365	0.80722	D	1	D	0.71674	0.998	P	0.62435	0.902	T	0.65919	-0.6051	10	0.29301	T	0.29	-16.2245	20.2192	0.98319	0.0:1.0:0.0:0.0	.	479	P10643	CO7_HUMAN	L	479;319	ENSP00000322061:P479L	ENSP00000322061:P479L	P	+	2	0	C7	40994067	0.999000	0.42202	0.970000	0.41538	0.978000	0.69477	4.524000	0.60552	2.780000	0.95670	0.655000	0.94253	CCG		0.507	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			4	153	0	0	0	1	0	4	153				
IGFL3	388555	broad.mit.edu	37	19	46627904	46627904	+	Start_Codon_SNP	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:46627904C>T	ENST00000341415.2	-	1	27	c.3G>A	c.(1-3)atG>atA	p.M1I	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	1						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ATCGTGGCCTCATGCTTCCAA	0.463																																						ENST00000341415.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(1-3)atG>atA		IGF-like family member 3							169.0	158.0	161.0					19																	46627904		2185	4300	6485	SO:0001582	initiator_codon_variant	388555					extracellular region	protein binding	g.chr19:46627904C>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.3G>A	19.37:g.46627904C>T	ENSP00000344860:p.Met1Ile					AC007193.6_ENST00000597989.1_lincRNA	p.M1I	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	1	27	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	1						Translation_Start_Site	SNP	ENST00000341415.2	37	c.3G>A	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	C	6.483	0.457361	0.12342	.	.	ENSG00000188624	ENST00000341415	T	0.23348	1.91	1.06	1.06	0.20224	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.80722	D	1	B	0.22414	0.069	B	0.17979	0.02	T	0.11665	-1.0578	8	0.87932	D	0	0.0219	5.4667	0.16648	0.0:1.0:0.0:0.0	.	1	Q6UXB1	IGFL3_HUMAN	I	1	ENSP00000344860:M1I	ENSP00000344860:M1I	M	-	3	0	IGFL3	51319744	0.000000	0.05858	0.012000	0.15200	0.006000	0.05464	0.054000	0.14205	0.883000	0.36040	0.543000	0.68304	ATG		0.463	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393	Missense_Mutation	19	79	0	0	0	1	0	19	79				
MADD	8567	broad.mit.edu	37	11	47346191	47346191	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:47346191A>C	ENST00000405573.2	+	13	1428	c.1215A>C	c.(1213-1215)caA>caC	p.Q405H	MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Intron|MADD_ENST00000311027.5_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000407859.3_Intron					MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCAATGTCCAAGCCCCCAGTA	0.582																																						ENST00000405573.2																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(1213-1215)caA>caC		MAP-kinase activating death domain																																				SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47346191A>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000405573.2:c.1215A>C	11.37:g.47346191A>C	ENSP00000384483:p.Gln405His					MADD_ENST00000395336.3_Intron|MADD_ENST00000311027.5_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000407859.3_Intron	p.Q405H			Q8WXG6	MADD_HUMAN		Lung(87;0.182)	13	1428	+			0						Missense_Mutation	SNP	ENST00000405573.2	37	c.1215A>C		.	.	.	.	.	.	.	.	.	.	G	12.45	1.942422	0.34283	.	.	ENSG00000110514	ENST00000405573	T	0.47869	0.83	4.9	3.99	0.46301	.	.	.	.	.	T	0.35128	0.0921	.	.	.	0.09310	N	1	B	0.31351	0.32	B	0.34138	0.176	T	0.21348	-1.0248	7	.	.	.	.	7.9557	0.30040	0.1912:0.0:0.8088:0.0	.	405	F8W8U2	.	H	405	ENSP00000384483:Q405H	.	Q	+	3	2	MADD	47302767	0.037000	0.19845	0.273000	0.24645	0.025000	0.11179	1.195000	0.32186	0.616000	0.30141	-0.338000	0.08134	CAA		0.582	MADD-018	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000391722.1			7	5	0	0	0	1	0	7	5				
LDOC1	23641	broad.mit.edu	37	X	140271069	140271069	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:140271069C>T	ENST00000370526.2	-	1	241	c.138G>A	c.(136-138)ccG>ccA	p.P46P	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	46					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GGCAGCTCGGCGGACGTACCT	0.642																																						ENST00000370526.2																			0				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14						c.(136-138)ccG>ccA		leucine zipper, down-regulated in cancer 1							31.0	28.0	29.0					X																	140271069		2203	4300	6503	SO:0001819	synonymous_variant	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271069C>T	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.138G>A	X.37:g.140271069C>T						LDOC1_ENST00000460721.1_Intron	p.P46P	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN			1	241	-	Acute lymphoblastic leukemia(192;7.65e-05)		46					Q6IAR6	Silent	SNP	ENST00000370526.2	37	c.138G>A	CCDS14672.1																																																																																				0.642	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		37	8	0	0	0	1	0	37	8				
LRRTM3	347731	broad.mit.edu	37	10	68687004	68687004	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:68687004A>C	ENST00000361320.4	+	2	908	c.330A>C	c.(328-330)agA>agC	p.R110S	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	110					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GAATACGCAGACTCAAAGAGC	0.368																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(328-330)agA>agC		leucine rich repeat transmembrane neuronal 3							98.0	103.0	101.0					10																	68687004		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687004A>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.330A>C	10.37:g.68687004A>C	ENSP00000355187:p.Arg110Ser					CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	p.R110S	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	908	+			110					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.330A>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125679	0.37533	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.51574	0.7	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.44222	0.1283	N	0.12569	0.235	0.45914	D	0.998752	D;D	0.65815	0.965;0.995	D;D	0.71184	0.912;0.972	T	0.41662	-0.9496	10	0.27082	T	0.32	.	6.8902	0.24224	0.8331:0.0:0.1669:0.0	.	110;110	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	S	110	ENSP00000355187:R110S	ENSP00000355187:R110S	R	+	3	2	LRRTM3	68357010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.724000	0.54962	2.056000	0.61249	0.533000	0.62120	AGA		0.368	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		25	188	0	0	0	1	0	25	188				
PSIP1	11168	broad.mit.edu	37	9	15506632	15506632	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:15506632C>G	ENST00000380733.4	-	3	419	c.76G>C	c.(76-78)Gac>Cac	p.D26H	PSIP1_ENST00000380738.4_Missense_Mutation_p.D26H|PSIP1_ENST00000484265.1_5'UTR|PSIP1_ENST00000380715.1_Missense_Mutation_p.D26H|PSIP1_ENST00000380716.4_Missense_Mutation_p.D26H|PSIP1_ENST00000397519.2_Missense_Mutation_p.D26H			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	26	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGAACTTCGTCTACCTAAAAG	0.348																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(76-78)Gac>Cac		PC4 and SFRS1 interacting protein 1							84.0	89.0	87.0					9																	15506632		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15506632C>G	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.76G>C	9.37:g.15506632C>G	ENSP00000370109:p.Asp26His					PSIP1_ENST00000380738.4_Missense_Mutation_p.D26H|PSIP1_ENST00000380716.4_Missense_Mutation_p.D26H|PSIP1_ENST00000397519.2_Missense_Mutation_p.D26H|PSIP1_ENST00000484265.1_5'UTR|PSIP1_ENST00000380715.1_Missense_Mutation_p.D26H	p.D26H			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	3	419	-			26			PWWP.		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.76G>C	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661649	0.88154	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.88	5.88	0.94601	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.993	D;D;D	0.81914	0.993;0.994;0.995	D	0.86539	0.1827	10	0.87932	D	0	.	19.0155	0.92892	0.0:1.0:0.0:0.0	.	26;26;26	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	H	26	ENSP00000370109:D26H;ENSP00000370114:D26H;ENSP00000370091:D26H;ENSP00000370092:D26H;ENSP00000380653:D26H	ENSP00000370091:D26H	D	-	1	0	PSIP1	15496632	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.746000	0.74866	2.774000	0.95407	0.655000	0.94253	GAC		0.348	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		29	51	0	0	0	1	0	29	51				
OR51M1	390059	broad.mit.edu	37	11	5411022	5411022	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:5411022T>C	ENST00000328611.3	+	1	416	c.394T>C	c.(394-396)Ttt>Ctt	p.F132L	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	132					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGTCCTTTGACCGCCT	0.502																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(394-396)Ttt>Ctt		olfactory receptor, family 51, subfamily M, member 1							226.0	216.0	219.0					11																	5411022		2065	4246	6311	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411022T>C	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.394T>C	11.37:g.5411022T>C	ENSP00000333196:p.Phe132Leu					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.F132L	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	416	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	132					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.394T>C	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541436	0.45280	.	.	ENSG00000184698	ENST00000328611	T	0.02552	4.25	5.06	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.248048	0.21164	U	0.079119	T	0.09335	0.0230	M	0.64170	1.965	0.30812	N	0.738731	D	0.76494	0.999	D	0.72075	0.976	T	0.02471	-1.1154	10	0.52906	T	0.07	.	7.5417	0.27742	0.1362:0.0:0.4205:0.4433	.	121	Q9H341	O51M1_HUMAN	L	132	ENSP00000333196:F132L	ENSP00000333196:F132L	F	+	1	0	OR51M1	5367598	0.000000	0.05858	0.991000	0.47740	0.198000	0.23893	-0.046000	0.11983	0.342000	0.23796	0.533000	0.62120	TTT		0.502	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		81	171	0	0	0	1	0	81	171				
NT5C1B	93034	broad.mit.edu	37	2	18766140	18766140	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:18766140C>T	ENST00000359846.2	-	5	620	c.543G>A	c.(541-543)gcG>gcA	p.A181A	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A181A|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.A121A|NT5C1B_ENST00000600945.1_Silent_p.A181A	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	181	Pro-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTGGGGCGACGCGGGTGGCT	0.716																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(361-363)gcG>gcA		5'-nucleotidase, cytosolic IB							11.0	17.0	15.0					2																	18766140		2130	4132	6262	SO:0001819	synonymous_variant	93034							g.chr2:18766140C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.543G>A	2.37:g.18766140C>T						NT5C1B_ENST00000359846.2_Silent_p.A181A|NT5C1B_ENST00000600945.1_Silent_p.A181A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A181A	p.A121A	NM_033253.3	NP_150278.2					4	463	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.363G>A	CCDS33150.1																																																																																				0.716	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			8	21	0	0	0	1	0	8	21				
IKBKAP	8518	broad.mit.edu	37	9	111681115	111681115	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:111681115C>T	ENST00000374647.5	-	8	1023	c.716G>A	c.(715-717)gGa>gAa	p.G239E	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	239					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.G239E(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGTCCCAGTCCTGCCACAGG	0.522																																						ENST00000374647.5																			1	Substitution - Missense(1)	p.G239E(1)	skin(1)	NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(715-717)gGa>gAa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							97.0	101.0	100.0					9																	111681115		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111681115C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.716G>A	9.37:g.111681115C>T	ENSP00000363779:p.Gly239Glu					IKBKAP_ENST00000537196.1_Intron	p.G239E	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			8	1023	-			239					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.716G>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960608	0.92791	.	.	ENSG00000070061	ENST00000374647	T	0.33654	1.4	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.046980	0.85682	D	0.000000	T	0.70395	0.3219	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78349	-0.2238	10	0.66056	D	0.02	-9.1987	16.9249	0.86173	0.0:1.0:0.0:0.0	.	239	O95163	ELP1_HUMAN	E	239	ENSP00000363779:G239E	ENSP00000363779:G239E	G	-	2	0	IKBKAP	110720936	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.244000	0.78228	2.582000	0.87167	0.655000	0.94253	GGA		0.522	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			12	71	0	0	0	1	0	12	71				
ALOX15B	247	broad.mit.edu	37	17	7948606	7948606	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7948606C>T	ENST00000380183.4	+	7	1039	c.900C>T	c.(898-900)acC>acT	p.T300T	ALOX15B_ENST00000380173.2_Silent_p.T300T|ALOX15B_ENST00000573359.1_Silent_p.T300T|ALOX15B_ENST00000572022.1_Silent_p.T300T	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	300	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCATCCAGACCAATGTCATTA	0.567																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(898-900)acC>acT		arachidonate 15-lipoxygenase, type B							82.0	84.0	84.0					17																	7948606		2203	4300	6503	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7948606C>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.900C>T	17.37:g.7948606C>T						ALOX15B_ENST00000572022.1_Silent_p.T300T|ALOX15B_ENST00000573359.1_Silent_p.T300T|ALOX15B_ENST00000380173.2_Silent_p.T300T	p.T300T	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			7	1039	+			300			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.900C>T	CCDS11128.1																																																																																				0.567	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			58	58	0	0	0	1	0	58	58				
SLC9B2	133308	broad.mit.edu	37	4	103987522	103987522	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:103987522C>A	ENST00000394785.3	-	3	864	c.233G>T	c.(232-234)tGc>tTc	p.C78F	SLC9B2_ENST00000362026.3_Missense_Mutation_p.C78F|SLC9B2_ENST00000339611.4_Missense_Mutation_p.C78F|SLC9B2_ENST00000503230.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000503103.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000505838.1_5'UTR	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	78					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										ATGTGGAGGGCAAGCCAGCAT	0.383																																						ENST00000394785.3																			0											c.(232-234)tGc>tTc		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							311.0	264.0	280.0					4																	103987522		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103987522C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.233G>T	4.37:g.103987522C>A	ENSP00000378265:p.Cys78Phe					SLC9B2_ENST00000339611.4_Missense_Mutation_p.C78F|SLC9B2_ENST00000503103.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000362026.3_Missense_Mutation_p.C78F|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.C78F	p.C78F	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			3	864	-			78					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.233G>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338900	0.41398	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.71934	1.71;1.64;1.71;-0.58;-0.61	4.06	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.83483	2.645	0.40626	D	0.981815	P;P;P	0.50943	0.94;0.845;0.881	P;B;B	0.45506	0.483;0.347;0.317	T	0.78344	-0.2240	10	0.87932	D	0	-2.101	10.7314	0.46098	0.1915:0.8085:0.0:0.0	.	78;78;78	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	F	78	ENSP00000354574:C78F;ENSP00000345241:C78F;ENSP00000378265:C78F;ENSP00000425385:C78F;ENSP00000422477:C78F	ENSP00000345241:C78F	C	-	2	0	SLC9B2	104206971	1.000000	0.71417	0.969000	0.41365	0.870000	0.49936	4.205000	0.58466	0.981000	0.38548	0.585000	0.79938	TGC		0.383	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		107	103	1	0	2.15005e-58	1	2.5855e-58	107	103				
GOLGA1	2800	broad.mit.edu	37	9	127674281	127674281	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:127674281C>G	ENST00000373555.4	-	11	1201	c.868G>C	c.(868-870)Gaa>Caa	p.E290Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	290					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ATAACGTCTTCTTTCTCTTGA	0.443																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(868-870)Gaa>Caa		golgin A1							193.0	174.0	180.0					9																	127674281		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127674281C>G	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.868G>C	9.37:g.127674281C>G	ENSP00000362656:p.Glu290Gln						p.E290Q	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			11	1201	-			290					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.868G>C	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	9.957	1.221653	0.22457	.	.	ENSG00000136935	ENST00000373555	T	0.77620	-1.11	5.84	4.0	0.46444	.	0.317994	0.22261	U	0.062407	T	0.76564	0.4005	M	0.63843	1.955	0.19300	N	0.999978	P;P	0.36048	0.493;0.534	P;B	0.44359	0.447;0.261	T	0.63985	-0.6513	10	0.25106	T	0.35	-2.1322	8.1149	0.30937	0.0:0.7537:0.0:0.2463	.	189;290	Q59HA1;Q92805	.;GOGA1_HUMAN	Q	290	ENSP00000362656:E290Q	ENSP00000362656:E290Q	E	-	1	0	GOLGA1	126714102	0.998000	0.40836	0.034000	0.17996	0.041000	0.13682	1.529000	0.35996	0.815000	0.34398	0.643000	0.83706	GAA		0.443	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		30	81	0	0	0	1	0	30	81				
PAPPA2	60676	broad.mit.edu	37	1	176564553	176564553	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:176564553A>G	ENST00000367662.3	+	3	2977	c.1813A>G	c.(1813-1815)Aca>Gca	p.T605A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T605A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	605	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACCCACTCACAGGCTATGA	0.587																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1813-1815)Aca>Gca		pappalysin 2							86.0	91.0	90.0					1																	176564553		2086	4220	6306	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564553A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1813A>G	1.37:g.176564553A>G	ENSP00000356634:p.Thr605Ala					PAPPA2_ENST00000367661.3_Missense_Mutation_p.T605A	p.T605A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2977	+			605			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1813A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383675	0.61845	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.91295	-2.82;-2.82	5.42	5.42	0.78866	Notch domain (2);	0.109570	0.64402	D	0.000009	D	0.94499	0.8229	M	0.67397	2.05	0.53688	D	0.999975	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.966	D	0.95063	0.8197	10	0.87932	D	0	-11.8279	15.1539	0.72723	1.0:0.0:0.0:0.0	.	605;605	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	A	605	ENSP00000356634:T605A;ENSP00000356633:T605A	ENSP00000356633:T605A	T	+	1	0	PAPPA2	174831176	1.000000	0.71417	0.986000	0.45419	0.293000	0.27360	9.170000	0.94795	2.057000	0.61298	0.528000	0.53228	ACA		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			15	67	0	0	0	1	0	15	67				
ARPC1B	10095	broad.mit.edu	37	7	98988690	98988690	+	Silent	SNP	C	C	T	rs138310411		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:98988690C>T	ENST00000451682.1	+	8	984	c.675C>T	c.(673-675)acC>acT	p.T225T	PDAP1_ENST00000496335.1_5'Flank|ARPC1B_ENST00000252725.5_Silent_p.T225T			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	225					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACGACAGCACCGTCTGCCTGG	0.622																																						ENST00000451682.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.(673-675)acC>acT		actin related protein 2/3 complex, subunit 1B, 41kDa		C		1,4405	2.1+/-5.4	0,1,2202	47.0	40.0	42.0		675	-4.1	0.9	7	dbSNP_134	42	0,8600		0,0,4300	no	coding-synonymous	ARPC1B	NM_005720.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		225/373	98988690	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98988690C>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.675C>T	7.37:g.98988690C>T						ARPC1B_ENST00000252725.5_Silent_p.T225T	p.T225T			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	984	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		225					Q9BU00	Silent	SNP	ENST00000451682.1	37	c.675C>T	CCDS5661.1																																																																																				0.622	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		22	32	0	0	0	1	0	22	32				
HTR5A	3361	broad.mit.edu	37	7	154862767	154862767	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:154862767C>T	ENST00000287907.2	+	1	734	c.158C>T	c.(157-159)gCg>gTg	p.A53V	HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.A83T|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.A83T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	53					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTGGTGGCGGCGACGTTCGCC	0.642																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(157-159)gCg>gTg		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							94.0	73.0	80.0					7																	154862767		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862767C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.158C>T	7.37:g.154862767C>T	ENSP00000287907:p.Ala53Val					AC093726.4_ENST00000395731.2_Missense_Mutation_p.A83T|AC093726.4_ENST00000543018.1_Missense_Mutation_p.A83T|AC093726.4_ENST00000493904.1_5'UTR	p.A53V	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	734	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	53					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.158C>T	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.313315|5.313315	0.95655|0.95655	.|.	.|.	ENSG00000220575|ENSG00000157219	ENST00000395731;ENST00000543018|ENST00000287907	.|T	.|0.32272	.|1.46	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.31638|0.31638	0.0803|0.0803	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.87578|0.64595	0.998|0.927	T|T	0.17228|0.17228	-1.0376|-1.0376	9|10	0.87932|0.15952	D|T	0|0.53	.|.	17.2701|17.2701	0.87098|0.87098	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83|53	B7Z8E6|P47898	.|5HT5A_HUMAN	T|V	83|53	.|ENSP00000287907:A53V	ENSP00000379080:A83T|ENSP00000287907:A53V	A|A	-|+	1|2	0|0	AC093726.4|HTR5A	154493700|154493700	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.949000|0.949000	0.60115|0.60115	7.246000|7.246000	0.78247|0.78247	2.309000|2.309000	0.77851|0.77851	0.467000|0.467000	0.42956|0.42956	GCC|GCG		0.642	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		16	79	0	0	0	1	0	16	79				
EHMT1	79813	broad.mit.edu	37	9	140637884	140637884	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:140637884C>T	ENST00000460843.1	+	5	912	c.885C>T	c.(883-885)acC>acT	p.T295T	EHMT1_ENST00000334856.6_Silent_p.T264T|EHMT1_ENST00000462484.1_Silent_p.T295T|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	295					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAATGGGAACCTATAGCCTGG	0.383																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(883-885)acC>acT		euchromatic histone-lysine N-methyltransferase 1							77.0	74.0	75.0					9																	140637884		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140637884C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.885C>T	9.37:g.140637884C>T						EHMT1_ENST00000334856.6_Silent_p.T264T|EHMT1_ENST00000462484.1_Silent_p.T295T|EHMT1_ENST00000371394.2_3'UTR	p.T295T	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	912	+	all_cancers(76;0.164)		295					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.885C>T	CCDS7050.2																																																																																				0.383	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		21	66	0	0	0	1	0	21	66				
GABRP	2568	broad.mit.edu	37	5	170235604	170235604	+	Splice_Site	SNP	G	G	A	rs267600549		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:170235604G>A	ENST00000518525.1	+	9	1144	c.680G>A	c.(679-681)gGa>gAa	p.G227E	GABRP_ENST00000519385.1_Splice_Site_p.G227E|GABRP_ENST00000519598.1_Splice_Site_p.G227E|GABRP_ENST00000265294.4_Splice_Site_p.G227E			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	227					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCCTTTCAGGAAATTACACT	0.403																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.e9-1		gamma-aminobutyric acid (GABA) A receptor, pi							159.0	143.0	148.0					5																	170235604		2203	4300	6503	SO:0001630	splice_region_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170235604G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.680-1G>A	5.37:g.170235604G>A						GABRP_ENST00000519385.1_Splice_Site_p.G227_splice|GABRP_ENST00000265294.4_Splice_Site_p.G227_splice|GABRP_ENST00000519598.1_Splice_Site_p.G227_splice	p.G227_splice			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1144	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	227					A8KA36|D3DQL2|Q32MJ1	Splice_Site	SNP	ENST00000518525.1	37	c.679_splice	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168648	0.57584	.	.	ENSG00000094755	ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.94	4.07	0.47477	Neurotransmitter-gated ion-channel ligand-binding (3);	0.102441	0.64402	D	0.000002	D	0.89722	0.6797	M	0.91717	3.235	0.80722	D	1	B;D	0.89917	0.291;1.0	B;D	0.97110	0.231;1.0	D	0.91553	0.5258	9	.	.	.	.	13.491	0.61395	0.077:0.0:0.923:0.0	.	227;227	E7EWG0;O00591	.;GBRP_HUMAN	E	227;125;227;227;227	ENSP00000430100:G227E;ENSP00000265294:G227E;ENSP00000430727:G227E;ENSP00000430772:G227E	.	G	+	2	0	GABRP	170168182	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	9.800000	0.99124	1.199000	0.43173	0.655000	0.94253	GGA		0.403	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	Missense_Mutation	19	47	0	0	0	1	0	19	47				
SLC28A1	9154	broad.mit.edu	37	15	85486741	85486741	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:85486741C>T	ENST00000286749.3	+	15	1737	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000394573.1_Silent_p.I549I|SLC28A1_ENST00000537624.1_Silent_p.I549I|SLC28A1_ENST00000538177.1_Silent_p.I383I			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	549					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCATTGGGATCATGCTGGGAG	0.522																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1645-1647)atC>atT		solute carrier family 28 (concentrative nucleoside transporter), member 1							115.0	91.0	99.0					15																	85486741		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85486741C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1647C>T	15.37:g.85486741C>T						SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.I549I|SLC28A1_ENST00000537624.1_Silent_p.I549I|SLC28A1_ENST00000538177.1_Silent_p.I383I	p.I549I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		16	1849	+			549					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1647C>T	CCDS10334.1																																																																																				0.522	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			15	75	0	0	0	1	0	15	75				
STAT6	6778	broad.mit.edu	37	12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57490672C>T	ENST00000300134.3	-	21	2640	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y|STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y|STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y|STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	772					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(2314-2316)tGc>tAc		signal transducer and activator of transcription 6, interleukin-4 induced							50.0	47.0	48.0					12																	57490672		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490672C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2315G>A	12.37:g.57490672C>T	ENSP00000300134:p.Cys772Tyr					STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y|STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y|STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y|STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y	p.C772Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			21	2640	-			772					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2315G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949601	0.53186	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	D;D;D;D;D;D	0.92397	-2.79;-3.03;-2.79;-2.79;-3.03;-2.79	4.87	4.87	0.63330	.	0.475564	0.20115	N	0.098921	D	0.87087	0.6090	N	0.24115	0.695	0.34682	D	0.724782	P;P	0.42785	0.79;0.79	B;B	0.41723	0.365;0.365	D	0.91590	0.5286	10	0.72032	D	0.01	-8.3535	13.3934	0.60836	0.0:1.0:0.0:0.0	.	772;772	A8K4S9;P42226	.;STAT6_HUMAN	Y	772;662;662;772;772;662;772;662	ENSP00000300134:C772Y;ENSP00000445409:C662Y;ENSP00000438451:C772Y;ENSP00000451742:C772Y;ENSP00000444530:C662Y;ENSP00000401486:C772Y	ENSP00000300134:C772Y	C	-	2	0	STAT6	55776939	0.911000	0.30947	1.000000	0.80357	0.965000	0.64279	1.974000	0.40559	2.537000	0.85549	0.561000	0.74099	TGC		0.642	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		48	47	0	0	0	1	0	48	47				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	113	0	0	0	1	0	4	113				
FRMPD3	84443	broad.mit.edu	37	X	106840686	106840686	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:106840686T>C	ENST00000276185.4	+	15	1676	c.1676T>C	c.(1675-1677)gTc>gCc	p.V559A				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	559						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTGAGCTTGTCAGCTTCTGC	0.582																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(1675-1677)gTc>gCc		FERM and PDZ domain containing 3							68.0	66.0	66.0					X																	106840686		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106840686T>C	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.1676T>C	X.37:g.106840686T>C	ENSP00000276185:p.Val559Ala						p.V559A			Q5JV73	FRPD3_HUMAN			15	1676	+			559					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.1676T>C		.	.	.	.	.	.	.	.	.	.	T	15.55	2.865763	0.51588	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.49720	0.77;0.77	4.93	4.93	0.64822	.	0.073490	0.56097	D	0.000034	T	0.44519	0.1297	L	0.40543	1.245	0.29250	N	0.872029	.	.	.	.	.	.	T	0.40308	-0.9570	8	0.21540	T	0.41	.	12.8541	0.57876	0.0:0.0:0.0:1.0	.	.	.	.	A	559;507	ENSP00000276185:V559A;ENSP00000398668:V507A	ENSP00000276185:V559A	V	+	2	0	FRMPD3	106727342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.321000	0.79088	1.827000	0.53221	0.356000	0.21956	GTC		0.582	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		17	42	0	0	0	1	0	17	42				
COL6A6	131873	broad.mit.edu	37	3	130305488	130305488	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:130305488G>A	ENST00000358511.6	+	10	4140	c.4109G>A	c.(4108-4110)cGg>cAg	p.R1370Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1370Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1370	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTGGAAGCCGGCTGTCAAAG	0.373																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(4108-4110)cGg>cAg		collagen, type VI, alpha 6							77.0	74.0	75.0					3																	130305488		1820	4084	5904	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130305488G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4109G>A	3.37:g.130305488G>A	ENSP00000351310:p.Arg1370Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.R1370Q	p.R1370Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			10	4140	+			1370			Nonhelical region.|VWFA 7.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4109G>A	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.425|1.425	-0.571810|-0.571810	0.03882|0.03882	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|D;D	.|0.88586	.|-2.39;-2.4	5.65|5.65	-3.32|-3.32	0.04973|0.04973	.|von Willebrand factor, type A (2);	.|1.005570	.|0.08011	.|N	.|0.990419	T|T	0.72495|0.72495	0.3467|0.3467	N|N	0.03115|0.03115	-0.41|-0.41	0.09310|0.09310	N|N	1|1	.|B	.|0.16603	.|0.018	.|B	.|0.08055	.|0.003	T|T	0.57412|0.57412	-0.7816|-0.7816	5|10	.|0.10111	.|T	.|0.7	.|.	13.8601|13.8601	0.63554|0.63554	0.6321:0.0:0.3679:0.0|0.6321:0.0:0.3679:0.0	.|.	.|1370	.|A6NMZ7	.|CO6A6_HUMAN	S|Q	128|1370	.|ENSP00000351310:R1370Q;ENSP00000399236:R1370Q	.|ENSP00000351310:R1370Q	G|R	+|+	1|2	0|0	COL6A6|COL6A6	131788178|131788178	0.000000|0.000000	0.05858|0.05858	0.021000|0.021000	0.16686|0.16686	0.208000|0.208000	0.24298|0.24298	-1.628000|-1.628000	0.02031|0.02031	-0.633000|-0.633000	0.05545|0.05545	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.373	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		36	67	0	0	0	1	0	36	67				
TAS2R3	50831	broad.mit.edu	37	7	141464576	141464576	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:141464576C>T	ENST00000247879.2	+	1	680	c.618C>T	c.(616-618)tcC>tcT	p.S206S	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	206					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TCATCTTCTCCCTGGGGAGGC	0.517																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(616-618)tcC>tcT		taste receptor, type 2, member 3							108.0	93.0	98.0					7																	141464576		2203	4300	6503	SO:0001819	synonymous_variant	50831				sensory perception of taste		taste receptor activity	g.chr7:141464576C>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.618C>T	7.37:g.141464576C>T						SSBP1_ENST00000465582.1_Intron	p.S206S	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	680	+	Melanoma(164;0.0171)		206					A4D1U2|Q645W2|Q75MV6	Silent	SNP	ENST00000247879.2	37	c.618C>T	CCDS5867.1																																																																																				0.517	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			36	126	0	0	0	1	0	36	126				
ICA1L	130026	broad.mit.edu	37	2	203693718	203693718	+	Silent	SNP	C	C	T	rs552339558		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:203693718C>T	ENST00000392237.2	-	3	172	c.15G>A	c.(13-15)ggG>ggA	p.G5G	ICA1L_ENST00000425178.1_Silent_p.G5G|ICA1L_ENST00000418208.1_Silent_p.G5G|ICA1L_ENST00000358299.2_Silent_p.G5G	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	5										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTGGGTTGCCCAAAGGAAT	0.383													c|||	1	0.000199681	0.0	0.0	5008	,	,		19230	0.0		0.0	False		,,,				2504	0.001					ENST00000392237.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(13-15)ggG>ggA		islet cell autoantigen 1,69kDa-like							133.0	118.0	123.0					2																	203693718		2203	4300	6503	SO:0001819	synonymous_variant	130026							g.chr2:203693718C>T	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.15G>A	2.37:g.203693718C>T						ICA1L_ENST00000418208.1_Silent_p.G5G|ICA1L_ENST00000425178.1_Silent_p.G5G|ICA1L_ENST00000358299.2_Silent_p.G5G	p.G5G	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN			3	172	-			5					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Silent	SNP	ENST00000392237.2	37	c.15G>A	CCDS2354.1																																																																																				0.383	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		44	113	0	0	0	1	0	44	113				
EXOC4	60412	broad.mit.edu	37	7	133041131	133041131	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:133041131C>G	ENST00000253861.4	+	6	840	c.811C>G	c.(811-813)Cca>Gca	p.P271A	EXOC4_ENST00000539845.1_Missense_Mutation_p.P170A|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	271					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGAATTGGATCCAGAGGAAAA	0.398																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(811-813)Cca>Gca		exocyst complex component 4							71.0	71.0	71.0					7																	133041131		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133041131C>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.811C>G	7.37:g.133041131C>G	ENSP00000253861:p.Pro271Ala					EXOC4_ENST00000539845.1_Missense_Mutation_p.P170A|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271A	p.P271A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			6	840	+		Esophageal squamous(399;0.129)	271					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.811C>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445679	0.63178	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.51	4.6	0.57074	.	0.053128	0.85682	D	0.000000	T	0.79793	0.4507	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.80764	0.994;0.876	T	0.82904	-0.0226	9	0.62326	D	0.03	.	15.7586	0.78058	0.1374:0.8625:0.0:0.0	.	271;271	Q96A65;Q8TAR2	EXOC4_HUMAN;.	A	271;271;170	.	ENSP00000253861:P271A	P	+	1	0	EXOC4	132691671	1.000000	0.71417	0.908000	0.35775	0.965000	0.64279	5.834000	0.69361	1.396000	0.46663	0.650000	0.86243	CCA		0.398	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		7	170	0	0	0	1	0	7	170				
FSTL5	56884	broad.mit.edu	37	4	163032436	163032436	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:163032436C>G	ENST00000306100.5	-	2	549	c.113G>C	c.(112-114)aGa>aCa	p.R38T	FSTL5_ENST00000379164.4_Missense_Mutation_p.R38T|FSTL5_ENST00000536695.1_Missense_Mutation_p.R38T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R38T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	38						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTCGCAATCTCATTAGAGG	0.403																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(112-114)aGa>aCa		follistatin-like 5							182.0	177.0	179.0					4																	163032436		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:163032436C>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.113G>C	4.37:g.163032436C>G	ENSP00000305334:p.Arg38Thr					FSTL5_ENST00000536695.1_Missense_Mutation_p.R38T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R38T|FSTL5_ENST00000379164.4_Missense_Mutation_p.R38T	p.R38T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	2	549	-	all_hematologic(180;0.24)		38					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.113G>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515553	0.64634	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.76839	-1.05;-1.01;-1.03;-1.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	L	0.47716	1.5	0.38320	D	0.943497	D;D;D	0.61080	0.981;0.989;0.981	D;D;D	0.75020	0.95;0.985;0.966	D	0.86239	0.1642	10	0.72032	D	0.01	.	15.2632	0.73640	0.0:1.0:0.0:0.0	.	38;38;38	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	T	38	ENSP00000305334:R38T;ENSP00000368462:R38T;ENSP00000389270:R38T;ENSP00000440409:R38T	ENSP00000305334:R38T	R	-	2	0	FSTL5	163251886	1.000000	0.71417	0.972000	0.41901	0.961000	0.63080	4.955000	0.63638	2.761000	0.94854	0.585000	0.79938	AGA		0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		66	65	0	0	0	1	0	66	65				
AXIN1	8312	broad.mit.edu	37	16	360043	360043	+	Missense_Mutation	SNP	C	C	T	rs36045489		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:360043C>T	ENST00000262320.3	-	4	1417	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	AXIN1_ENST00000354866.3_Missense_Mutation_p.R349H|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTGCTGCTTACGGATCCTGTA	0.612																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221	GRCh37	CM043742	AXIN1	M	rs36045489	c.(1045-1047)cGt>cAt		axin 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	53.0	63.0		1046,1046	3.8	0.9	16	dbSNP_126	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	349/863,349/827	360043	2,13004	2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:360043C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1046G>A	16.37:g.360043C>T	ENSP00000262320:p.Arg349His					AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R349H	p.R349H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			4	1417	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	349			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1046G>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314980	0.40996	2.27E-4	1.16E-4	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82711	-1.64;-1.64	4.84	3.84	0.44239	.	0.057737	0.64402	D	0.000001	D	0.82554	0.5062	M	0.78801	2.425	0.58432	D	0.999996	B;B	0.16802	0.015;0.019	B;B	0.18263	0.021;0.013	T	0.81446	-0.0929	10	0.42905	T	0.14	14.04	14.4783	0.67562	0.1474:0.8526:0.0:0.0	rs36045489	349;349	O15169-2;O15169	.;AXIN1_HUMAN	H	349	ENSP00000262320:R349H;ENSP00000346935:R349H	ENSP00000262320:R349H	R	-	2	0	AXIN1	300044	1.000000	0.71417	0.941000	0.38009	0.200000	0.23975	5.801000	0.69115	2.257000	0.74773	0.456000	0.33151	CGT		0.612	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			5	22	0	0	0	1	0	5	22				
SAMD9L	219285	broad.mit.edu	37	7	92762251	92762251	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:92762251C>T	ENST00000318238.4	-	5	4250	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1012T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1012T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1012					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATATTCAATGCAATTTGACAT	0.363																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3034-3036)Gca>Aca		sterile alpha motif domain containing 9-like							55.0	58.0	57.0					7																	92762251		2203	4297	6500	SO:0001583	missense	219285							g.chr7:92762251C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3034G>A	7.37:g.92762251C>T	ENSP00000326247:p.Ala1012Thr					SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1012T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1012T	p.A1012T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4250	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1012					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3034G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	1.395	-0.579694	0.03854	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.22539	1.95;1.95;1.95	5.11	3.27	0.37495	.	0.282256	0.31461	N	0.007609	T	0.12433	0.0302	L	0.29908	0.895	0.23765	N	0.996901	B	0.23377	0.084	B	0.20184	0.028	T	0.20840	-1.0263	10	0.20046	T	0.44	-15.8259	6.4058	0.21664	0.0:0.6257:0.0:0.3743	.	1012	Q8IVG5	SAM9L_HUMAN	T	1012	ENSP00000326247:A1012T;ENSP00000405760:A1012T;ENSP00000408796:A1012T	ENSP00000326247:A1012T	A	-	1	0	SAMD9L	92600187	0.001000	0.12720	0.645000	0.29479	0.013000	0.08279	0.428000	0.21395	1.390000	0.46547	0.467000	0.42956	GCA		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		77	115	0	0	0	1	0	77	115				
NAGLU	4669	broad.mit.edu	37	17	40690691	40690691	+	Missense_Mutation	SNP	C	C	T	rs368907396		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:40690691C>T	ENST00000225927.2	+	4	783	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	228					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTCCAGCACCGGGTCCTGGA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17841	0.0		0.0	False		,,,				2504	0.0					ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(682-684)Cgg>Tgg		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	54.0	59.0		682	4.2	0.9	17		59	0,8600		0,0,4300	no	missense	NAGLU	NM_000263.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	228/744	40690691	1,13005	2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40690691C>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.682C>T	17.37:g.40690691C>T	ENSP00000225927:p.Arg228Trp					RP11-400F19.8_ENST00000585572.1_RNA	p.R228W	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	4	783	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	228						Missense_Mutation	SNP	ENST00000225927.2	37	c.682C>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908873	0.52439	2.27E-4	0.0	ENSG00000108784	ENST00000225927	D	0.99089	-5.41	5.18	4.21	0.49690	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.270342	0.36778	N	0.002412	D	0.99080	0.9684	M	0.83483	2.645	0.38521	D	0.948716	D	0.89917	1.0	P	0.62885	0.908	D	0.99911	1.1202	10	0.87932	D	0	-22.6975	12.6654	0.56840	0.0:0.9183:0.0:0.0817	.	228	P54802	ANAG_HUMAN	W	228	ENSP00000225927:R228W	ENSP00000225927:R228W	R	+	1	2	NAGLU	37944217	0.998000	0.40836	0.895000	0.35142	0.253000	0.25986	3.237000	0.51344	1.170000	0.42753	-0.263000	0.10527	CGG		0.627	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		16	69	0	0	0	1	0	16	69				
SOX9	6662	broad.mit.edu	37	17	70119806	70119806	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:70119806T>A	ENST00000245479.2	+	3	1180	c.808T>A	c.(808-810)Ttc>Atc	p.F270I		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	270					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCCTATCGACTTCCGCGACGT	0.647																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(808-810)Ttc>Atc		SRY (sex determining region Y)-box 9							62.0	70.0	67.0					17																	70119806		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119806T>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.808T>A	17.37:g.70119806T>A	ENSP00000245479:p.Phe270Ile						p.F270I	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1180	+		Colorectal(1115;0.245)	270					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.808T>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.616893	0.66672	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.82893	-1.66	4.53	4.53	0.55603	.	0.058031	0.64402	D	0.000001	D	0.88800	0.6535	H	0.96080	3.765	0.80722	D	1	P	0.40250	0.709	B	0.40410	0.328	D	0.91445	0.5177	10	0.87932	D	0	.	13.5225	0.61576	0.0:0.0:0.0:1.0	.	270	P48436	SOX9_HUMAN	I	270	ENSP00000245479:F270I	ENSP00000245479:F270I	F	+	1	0	SOX9	67631401	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	7.714000	0.84703	1.676000	0.50930	0.379000	0.24179	TTC		0.647	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		76	66	0	0	0	1	0	76	66				
CD200R1L	344807	broad.mit.edu	37	3	112546292	112546292	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:112546292T>C	ENST00000398214.1	-	3	577	c.352A>G	c.(352-354)Act>Gct	p.T118A	CD200R1L_ENST00000488794.1_Missense_Mutation_p.T97A|CD200R1L_ENST00000448932.1_Missense_Mutation_p.T97A	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	118	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CCGTCATGAGTGGTGTCCACC	0.463																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(289-291)Act>Gct		CD200 receptor 1-like							142.0	138.0	139.0					3																	112546292		2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546292T>C	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.352A>G	3.37:g.112546292T>C	ENSP00000381272:p.Thr118Ala					CD200R1L_ENST00000398214.1_Missense_Mutation_p.T118A|CD200R1L_ENST00000448932.1_Missense_Mutation_p.T97A	p.T97A			Q6Q8B3	MO2R2_HUMAN			5	878	-			118			Ig-like V-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.289A>G	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625734	0.46840	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.28666	1.6;1.6;1.6	3.99	-1.33	0.09172	Immunoglobulin-like fold (1);	0.922940	0.09309	N	0.819805	T	0.22282	0.0537	L	0.39245	1.2	0.09310	N	1	D	0.53312	0.959	P	0.47744	0.556	T	0.13899	-1.0492	10	0.19590	T	0.45	.	0.4008	0.00425	0.1817:0.2146:0.1878:0.4158	.	118	Q6Q8B3	MO2R2_HUMAN	A	118;97;97	ENSP00000381272:T118A;ENSP00000418413:T97A;ENSP00000415132:T97A	ENSP00000381272:T118A	T	-	1	0	CD200R1L	114028982	0.000000	0.05858	0.058000	0.19502	0.180000	0.23129	-1.255000	0.02872	-0.095000	0.12351	-0.336000	0.08194	ACT		0.463	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		152	137	0	0	0	1	0	152	137				
BLZF1	8548	broad.mit.edu	37	1	169345982	169345982	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:169345982C>G	ENST00000367808.3	+	3	656	c.233C>G	c.(232-234)gCt>gGt	p.A78G	BLZF1_ENST00000329281.2_Missense_Mutation_p.A78G|BLZF1_ENST00000367807.3_Missense_Mutation_p.A78G			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	78					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAGTTAAAGCTGTAAGAATA	0.403																																						ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(232-234)gCt>gGt		basic leucine zipper nuclear factor 1							116.0	126.0	123.0					1																	169345982		2202	4300	6502	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169345982C>G	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.233C>G	1.37:g.169345982C>G	ENSP00000356782:p.Ala78Gly					BLZF1_ENST00000329281.2_Missense_Mutation_p.A78G|BLZF1_ENST00000367807.3_Missense_Mutation_p.A78G	p.A78G			Q9H2G9	GO45_HUMAN			3	656	+	all_hematologic(923;0.208)		78					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.233C>G	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921913	0.92319	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000420531;ENST00000426663	T;T;T;T;T	0.65916	1.04;1.04;-0.03;-0.18;1.03	5.4	5.4	0.78164	.	0.097390	0.64402	D	0.000001	T	0.76557	0.4004	M	0.74881	2.28	0.48087	D	0.999587	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.979;0.979;0.999	T	0.78018	-0.2368	9	0.59425	D	0.04	-5.9494	19.1919	0.93671	0.0:1.0:0.0:0.0	.	78;78;78	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	G	78	ENSP00000356782:A78G;ENSP00000327541:A78G;ENSP00000356781:A78G;ENSP00000414668:A78G;ENSP00000404408:A78G	ENSP00000327541:A78G	A	+	2	0	BLZF1	167612606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.140000	0.77322	2.537000	0.85549	0.655000	0.94253	GCT		0.403	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		30	77	0	0	0	1	0	30	77				
ESRRG	2104	broad.mit.edu	37	1	216737575	216737575	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:216737575G>A	ENST00000408911.3	-	5	1001	c.848C>T	c.(847-849)gCg>gTg	p.A283V	ESRRG_ENST00000366938.2_Missense_Mutation_p.A260V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A260V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A260V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A260V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A260V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A260V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A267V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A295V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A221V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A260V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A260V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A260V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	283					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AATATGCTTCGCCCATCCAAT	0.418																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(799-801)gCg>gTg		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						136.0	124.0	128.0					1																	216737575		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737575G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.848C>T	1.37:g.216737575G>A	ENSP00000386171:p.Ala283Val					ESRRG_ENST00000493603.1_Missense_Mutation_p.A260V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A283V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A260V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A221V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A260V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A260V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A260V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A260V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A295V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A260V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A260V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A260V	p.A267V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	7	1317	-			283					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.800C>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806256	0.90623	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;T;D;D;D	0.99523	-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-0.1;-6.08;-6.08;-6.08	5.45	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.098508	0.64402	D	0.000001	D	0.99654	0.9872	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.971;0.983	D	0.97543	1.0087	10	0.87932	D	0	.	15.83	0.78743	0.0:0.1364:0.8636:0.0	.	221;295;283	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	260;260;295;283;260;260;260;260;260;267;221;260;260;260;260	ENSP00000355225:A260V;ENSP00000355907:A260V;ENSP00000355904:A295V;ENSP00000386171:A283V;ENSP00000352077:A260V;ENSP00000354584:A260V;ENSP00000355905:A260V;ENSP00000353108:A260V;ENSP00000419594:A260V;ENSP00000375761:A267V;ENSP00000418629:A221V;ENSP00000419155:A260V;ENSP00000417374:A260V;ENSP00000419514:A260V	ENSP00000346386:A260V	A	-	2	0	ESRRG	214804198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.219000	0.43474	0.650000	0.86243	GCG		0.418	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		27	66	0	0	0	1	0	27	66				
ANXA2R	389289	broad.mit.edu	37	5	43040113	43040113	+	Silent	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:43040113A>C	ENST00000314890.3	-	2	1455	c.36T>G	c.(34-36)gcT>gcG	p.A12A	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	12																	CGGAATCCCAAGCCCGCTTCA	0.562											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314890.3																			0											c.(34-36)gcT>gcG		annexin A2 receptor							38.0	44.0	42.0					5																	43040113		2201	4300	6501	SO:0001819	synonymous_variant	389289						receptor activity	g.chr5:43040113A>C	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.36T>G	5.37:g.43040113A>C			OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913		p.A12A	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN			2	1455	-			12					Q8NHX5	Silent	SNP	ENST00000314890.3	37	c.36T>G	CCDS34153.1																																																																																				0.562	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		22	88	0	0	0	1	0	22	88				
NBPF20	100288142	broad.mit.edu	37	1	148346651	148346651	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:148346651C>T	ENST00000369202.1	-	2	303	c.106G>A	c.(106-108)Gga>Aga	p.G36R	NBPF20_ENST00000414710.2_Missense_Mutation_p.G36R			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	36						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TTGAGGTTTCCGAACTGCTGT	0.483																																						ENST00000369202.1																			0				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.(106-108)Gga>Aga		neuroblastoma breakpoint family, member 20							105.0	117.0	113.0					1																	148346651		2167	4292	6459	SO:0001583	missense	100288142							g.chr1:148346651C>T		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.106G>A	1.37:g.148346651C>T	ENSP00000358203:p.Gly36Arg					NBPF20_ENST00000414710.2_Missense_Mutation_p.G36R	p.G36R							2	303	-									Missense_Mutation	SNP	ENST00000369202.1	37	c.106G>A		.	.	.	.	.	.	.	.	.	.	.	0	-2.733818	0.00089	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.02737	4.18;4.31;4.25	0.521	-0.778	0.10977	.	.	.	.	.	T	0.00271	0.0008	.	.	.	0.24145	N	0.995713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40869	-0.9540	6	0.02654	T	1	.	.	.	.	.	36;36	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	R	36	ENSP00000358203:G36R;ENSP00000358189:G36R;ENSP00000389520:G36R	ENSP00000358189:G36R	G	-	1	0	NBPF20	146713275	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.114000	0.01329	-1.569000	0.01668	-1.461000	0.01025	GGA		0.483	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			23	264	0	0	0	1	0	23	264				
SERINC3	10955	broad.mit.edu	37	20	43129789	43129789	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:43129789T>C	ENST00000342374.4	-	9	1365	c.1208A>G	c.(1207-1209)tAt>tGt	p.Y403C	SERINC3_ENST00000541235.1_Missense_Mutation_p.Y348C|SERINC3_ENST00000255175.1_Missense_Mutation_p.Y403C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	403					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGAGTAGCTATACTGCACTCC	0.512																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(1207-1209)tAt>tGt		serine incorporator 3							172.0	149.0	157.0					20																	43129789		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43129789T>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1208A>G	20.37:g.43129789T>C	ENSP00000340243:p.Tyr403Cys					SERINC3_ENST00000255175.1_Missense_Mutation_p.Y403C|SERINC3_ENST00000541235.1_Missense_Mutation_p.Y348C	p.Y403C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		9	1365	-		Myeloproliferative disorder(115;0.0122)	403					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.1208A>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648926	0.87958	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.4	5.4	0.78164	.	0.054502	0.85682	D	0.000000	T	0.66036	0.2749	H	0.96460	3.825	0.80722	D	1	B;B	0.31640	0.333;0.154	P;B	0.50352	0.638;0.424	T	0.73219	-0.4052	10	0.87932	D	0	.	15.5933	0.76558	0.0:0.0:0.0:1.0	.	403;403	Q53GK8;Q13530	.;SERC3_HUMAN	C	142;403;403;370;348	ENSP00000414197:Y142C;ENSP00000255175:Y403C;ENSP00000340243:Y403C;ENSP00000440966:Y348C	ENSP00000255175:Y403C	Y	-	2	0	SERINC3	42563203	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.746000	0.85057	2.270000	0.75569	0.460000	0.39030	TAT		0.512	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		58	44	0	0	0	1	0	58	44				
TAS2R3	50831	broad.mit.edu	37	7	141464575	141464575	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:141464575C>T	ENST00000247879.2	+	1	679	c.617C>T	c.(616-618)tCc>tTc	p.S206F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	206					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CTCATCTTCTCCCTGGGGAGG	0.517																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(616-618)tCc>tTc		taste receptor, type 2, member 3							110.0	94.0	99.0					7																	141464575		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464575C>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.617C>T	7.37:g.141464575C>T	ENSP00000247879:p.Ser206Phe					SSBP1_ENST00000465582.1_Intron	p.S206F	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	679	+	Melanoma(164;0.0171)		206					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.617C>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037773	0.75617	.	.	ENSG00000127362	ENST00000247879	T	0.01572	4.76	5.93	5.93	0.95920	.	0.139926	0.48767	D	0.000171	T	0.14399	0.0348	M	0.88181	2.935	0.44547	D	0.997503	D	0.89917	1.0	D	0.97110	1.0	T	0.00034	-1.2268	10	0.87932	D	0	.	17.8301	0.88679	0.0:1.0:0.0:0.0	.	206	Q9NYW6	TA2R3_HUMAN	F	206	ENSP00000247879:S206F	ENSP00000247879:S206F	S	+	2	0	TAS2R3	141111044	0.994000	0.37717	0.996000	0.52242	0.630000	0.37929	3.599000	0.54045	2.814000	0.96858	0.563000	0.77884	TCC		0.517	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			36	126	0	0	0	1	0	36	126				
NCOR2	9612	broad.mit.edu	37	12	124811994	124811994	+	Missense_Mutation	SNP	C	C	T	rs201513599		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:124811994C>T	ENST00000405201.1	-	45	7144	c.7144G>A	c.(7144-7146)Gct>Act	p.A2382T	NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2372T|NCOR2_ENST00000356219.3_Missense_Mutation_p.A2389T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1943T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2393					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCGTCAGCAGCGGTTATGGGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		8460	0.0		0.0	False		,,,				2504	0.001					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(7165-7167)Gct>Act		nuclear receptor corepressor 2		C	,THR/ALA,THR/ALA	1,4189		0,1,2094	54.0	60.0	58.0		,7144,7114	3.2	1.0	12		58	10,8418		0,10,4204	yes	intron,missense,missense	NCOR2	NM_001077261.3,NM_006312.5,NM_001206654.1	,58,58	0,11,6298	TT,TC,CC		0.1187,0.0239,0.0872	,benign,benign	,2382/2515,2372/2505	124811994	11,12607	2095	4214	6309	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124811994C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7144G>A	12.37:g.124811994C>T	ENSP00000384018:p.Ala2382Thr					NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2372T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2382T|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1943T	p.A2389T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	46	7320	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2393					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.7165G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940718	0.34283	2.39E-4	0.001187	ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T	0.18174	2.23;2.23;2.23;2.49	5.18	3.24	0.37175	.	0.338345	0.26317	N	0.025080	T	0.10294	0.0252	L	0.27053	0.805	0.26808	N	0.969066	B	0.27229	0.172	B	0.28849	0.095	T	0.27191	-1.0081	10	0.25751	T	0.34	-0.7444	4.8335	0.13453	0.0:0.5347:0.1694:0.2959	.	2382	C9JFD3	.	T	2382;2389;2381;1943;474;2372	ENSP00000384018:A2382T;ENSP00000348551:A2389T;ENSP00000385618:A1943T;ENSP00000400281:A2372T	ENSP00000348551:A2389T	A	-	1	0	NCOR2	123377947	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.179000	0.31993	0.471000	0.27319	0.491000	0.48974	GCT		0.637	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	118	0	0	0	1	0	5	118				
PABPC3	5042	broad.mit.edu	37	13	25672188	25672188	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:25672188A>G	ENST00000281589.3	+	1	1889	c.1852A>G	c.(1852-1854)Acc>Gcc	p.T618A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	618					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.T618A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TAAAGAGGCTACCCAGAAAGC	0.408																																						ENST00000281589.3																			1	Substitution - Missense(1)	p.T618A(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1852-1854)Acc>Gcc		poly(A) binding protein, cytoplasmic 3							112.0	118.0	116.0					13																	25672188		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672188A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1852A>G	13.37:g.25672188A>G	ENSP00000281589:p.Thr618Ala						p.T618A	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1889	+		Lung SC(185;0.0225)|Breast(139;0.0602)	618					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1852A>G	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	1.860	-0.462980	0.04476	.	.	ENSG00000151846	ENST00000281589	T	0.37915	1.17	0.875	-1.75	0.08031	Polyadenylate-binding protein/Hyperplastic disc protein (2);	0.133482	0.31472	N	0.007583	T	0.06645	0.0170	N	0.00566	-1.37	0.23577	N	0.997378	B	0.02656	0.0	B	0.01281	0.0	T	0.38329	-0.9666	10	0.02654	T	1	.	5.3909	0.16244	0.2494:0.0:0.7506:0.0	.	618	Q9H361	PABP3_HUMAN	A	618	ENSP00000281589:T618A	ENSP00000281589:T618A	T	+	1	0	PABPC3	24570188	1.000000	0.71417	0.997000	0.53966	0.560000	0.35617	2.112000	0.41892	-0.150000	0.11195	-0.736000	0.03550	ACC		0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		12	194	0	0	0	1	0	12	194				
GPALPP1	55425	broad.mit.edu	37	13	45594503	45594503	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:45594503T>G	ENST00000379151.4	+	7	847	c.744T>G	c.(742-744)gaT>gaG	p.D248E	GPALPP1_ENST00000361121.2_Missense_Mutation_p.D248E|GPALPP1_ENST00000357537.3_Missense_Mutation_p.D78E|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	248																	GTAAGAAAGATGAAGAACATA	0.333																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(742-744)gaT>gaG									94.0	97.0	96.0					13																	45594503		2203	4300	6503	SO:0001583	missense	55425							g.chr13:45594503T>G	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.744T>G	13.37:g.45594503T>G	ENSP00000368447:p.Asp248Glu					RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_Missense_Mutation_p.D78E|KIAA1704_ENST00000379151.4_Missense_Mutation_p.D248E	p.D248E			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	7	779	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	248					A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	c.744T>G	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	T	3.155	-0.173262	0.06421	.	.	ENSG00000133114	ENST00000379151;ENST00000361121;ENST00000357537	.	.	.	5.16	1.2	0.21068	.	0.153174	0.56097	D	0.000035	T	0.27063	0.0663	N	0.16266	0.395	0.41039	D	0.985214	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.07751	-1.0756	9	0.09590	T	0.72	-2.623	5.5629	0.17154	0.1272:0.1434:0.0:0.7294	.	99;248	Q8IXQ4-2;Q8IXQ4	.;K1704_HUMAN	E	248;248;78	.	ENSP00000350145:D78E	D	+	3	2	KIAA1704	44492503	0.911000	0.30947	0.998000	0.56505	0.834000	0.47266	-0.212000	0.09319	0.042000	0.15717	-0.309000	0.09137	GAT		0.333	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		26	98	0	0	0	1	0	26	98				
CYP7B1	9420	broad.mit.edu	37	8	65528525	65528525	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:65528525G>T	ENST00000310193.3	-	3	746	c.573C>A	c.(571-573)atC>atA	p.I191I	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	191					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTGTAAATGTGATCTCAAATA	0.323																																						ENST00000310193.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(571-573)atC>atA		cytochrome P450, family 7, subfamily B, polypeptide 1							51.0	51.0	51.0					8																	65528525		2203	4300	6503	SO:0001819	synonymous_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65528525G>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.573C>A	8.37:g.65528525G>T							p.I191I	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			3	746	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	191					B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	c.573C>A	CCDS6180.1																																																																																				0.323	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			8	67	1	0	0.000442599	1	0.000453744	8	67				
F3	2152	broad.mit.edu	37	1	95005817	95005817	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:95005817T>C	ENST00000334047.7	-	2	371	c.208A>G	c.(208-210)Ata>Gta	p.I70V	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Missense_Mutation_p.I70V	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	70					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GCTTACCTTATTTGAACAGTG	0.348																																					Melanoma(40;358 1339 15970 39161)	ENST00000334047.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14						c.(208-210)Ata>Gta		coagulation factor III (thromboplastin, tissue factor)	Coagulation factor VIIa(DB00036)						127.0	125.0	126.0					1																	95005817		2203	4300	6503	SO:0001583	missense	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:95005817T>C	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.208A>G	1.37:g.95005817T>C	ENSP00000334145:p.Ile70Val					F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Missense_Mutation_p.I70V	p.I70V	NM_001993.4	NP_001984.1	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	2	371	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	70					D3DT47|Q6FHG2|Q86WH4	Missense_Mutation	SNP	ENST00000334047.7	37	c.208A>G	CCDS750.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388801	0.61956	.	.	ENSG00000117525	ENST00000334047;ENST00000370207	T;T	0.72942	-0.7;-0.7	4.9	4.9	0.64082	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.054442	0.85682	D	0.000000	T	0.57770	0.2076	L	0.61387	1.9	0.34234	D	0.676808	P;P	0.44478	0.803;0.836	P;P	0.48030	0.564;0.548	T	0.58752	-0.7581	10	0.14252	T	0.57	.	10.9095	0.47099	0.0:0.0:0.0:1.0	.	70;70	P13726-2;P13726	.;TF_HUMAN	V	70	ENSP00000334145:I70V;ENSP00000359226:I70V	ENSP00000334145:I70V	I	-	1	0	F3	94778405	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.161000	0.58170	1.844000	0.53588	0.460000	0.39030	ATA		0.348	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		57	26	0	0	0	1	0	57	26				
USP13	8975	broad.mit.edu	37	3	179439330	179439330	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:179439330C>T	ENST00000263966.3	+	8	1512	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.L282L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	347	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GCTGCTATCTCAGCTCTGTCA	0.567																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(1039-1041)ctC>ctT		ubiquitin specific peptidase 13 (isopeptidase T-3)							111.0	96.0	101.0					3																	179439330		2203	4300	6503	SO:0001819	synonymous_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179439330C>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1041C>T	3.37:g.179439330C>T						USP13_ENST00000496897.1_Silent_p.L282L|USP13_ENST00000482333.1_3'UTR	p.L347L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		8	1512	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		347					A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	c.1041C>T	CCDS3235.1																																																																																				0.567	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			13	146	0	0	0	1	0	13	146				
DNAH11	8701	broad.mit.edu	37	7	21744171	21744171	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:21744171G>A	ENST00000409508.3	+	38	6424	c.6393G>A	c.(6391-6393)aaG>aaA	p.K2131K	DNAH11_ENST00000328843.6_Silent_p.K2138K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2138					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAGGAGGAAGCTGCACTTTG	0.527									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(6412-6414)aaG>aaA		dynein, axonemal, heavy chain 11							75.0	76.0	76.0					7																	21744171		1996	4181	6177	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21744171G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6393G>A	7.37:g.21744171G>A						DNAH11_ENST00000409508.3_Silent_p.K2131K	p.K2138K			Q96DT5	DYH11_HUMAN			39	6445	+			2138					Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6414G>A																																																																																					0.527	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	29	0	0	0	1	0	14	29				
CIPC	85457	broad.mit.edu	37	14	77576297	77576297	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:77576297C>T	ENST00000361786.2	+	3	596	c.279C>T	c.(277-279)gtC>gtT	p.V93V	RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.V93V|KIAA1737_ENST00000555437.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		93					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CTCCCATGGTCGTCATGAAGA	0.473																																						ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(277-279)gtC>gtT		KIAA1737							120.0	107.0	112.0					14																	77576297		2203	4300	6503	SO:0001819	synonymous_variant	85457							g.chr14:77576297C>T																												ENST00000361786.2:c.279C>T	14.37:g.77576297C>T						KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.V93V|RP11-463C8.4_ENST00000557752.1_Intron	p.V93V	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	3	596	+			93					B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	37	c.279C>T	CCDS9855.1																																																																																				0.473	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			15	96	0	0	0	1	0	15	96				
AHNAK2	113146	broad.mit.edu	37	14	105406956	105406956	+	Silent	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:105406956A>C	ENST00000333244.5	-	7	14951	c.14832T>G	c.(14830-14832)gcT>gcG	p.A4944A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4944						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTCGTGGTCAGCATCTTCAG	0.552																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14830-14832)gcT>gcG		AHNAK nucleoprotein 2							45.0	43.0	44.0					14																	105406956		1897	4134	6031	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105406956A>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14832T>G	14.37:g.105406956A>C						AHNAK2_ENST00000557457.1_Intron	p.A4944A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14951	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4944					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.14832T>G	CCDS45177.1																																																																																				0.552	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		14	72	0	0	0	1	0	14	72				
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAACCAGACCTCAGGCGGC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS071266	TP53	S		c.e6+1	Other conserved DNA damage response genes	tumor protein p53							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578176C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	16	24	1	0	3.45872e-05	1	3.59757e-05	16	24				
PSD4	23550	broad.mit.edu	37	2	113940316	113940316	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:113940316G>A	ENST00000245796.6	+	2	478	c.283G>A	c.(283-285)Gac>Aac	p.D95N	PSD4_ENST00000441564.3_Missense_Mutation_p.D95N|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	95					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGGGCCACTGACCCTCCTGA	0.642																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(283-285)Gac>Aac		pleckstrin and Sec7 domain containing 4							49.0	52.0	51.0					2																	113940316		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940316G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.283G>A	2.37:g.113940316G>A	ENSP00000245796:p.Asp95Asn					PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.D95N	p.D95N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	478	+			95					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.283G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955055	0.53293	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.16743	2.48;2.32	4.06	3.18	0.36537	.	2.655290	0.01321	N	0.010934	T	0.12008	0.0292	N	0.14661	0.345	0.18873	N	0.999987	B;B	0.34290	0.447;0.319	B;B	0.29440	0.102;0.047	T	0.22941	-1.0202	10	0.52906	T	0.07	.	7.8637	0.29524	0.1161:0.0:0.8839:0.0	.	95;95	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	N	95	ENSP00000245796:D95N;ENSP00000413997:D95N	ENSP00000245796:D95N	D	+	1	0	PSD4	113656787	0.057000	0.20700	0.003000	0.11579	0.328000	0.28507	2.481000	0.45215	1.043000	0.40175	0.313000	0.20887	GAC		0.642	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		14	44	0	0	0	1	0	14	44				
GALNT13	114805	broad.mit.edu	37	2	155099238	155099238	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:155099238A>G	ENST00000392825.3	+	6	1073	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	GALNT13_ENST00000409237.1_Missense_Mutation_p.Y169C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	169	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTAGAGAATTACGTGAAAAAT	0.348																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(505-507)tAc>tGc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							32.0	35.0	34.0					2																	155099238		2203	4299	6502	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099238A>G	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.506A>G	2.37:g.155099238A>G	ENSP00000376570:p.Tyr169Cys					GALNT13_ENST00000409237.1_Missense_Mutation_p.Y169C	p.Y169C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			6	1073	+			169			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.506A>G	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313724	0.81358	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.65549	-0.16;-0.16	5.98	5.98	0.97165	Glycosyl transferase, family 2 (1);	0.058018	0.64402	D	0.000001	D	0.85961	0.5819	H	0.96833	3.89	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.73380	0.98;0.905	D	0.90568	0.4520	10	0.87932	D	0	.	15.6377	0.76966	1.0:0.0:0.0:0.0	.	169;169	Q08ER7;Q8IUC8	.;GLT13_HUMAN	C	169	ENSP00000376570:Y169C;ENSP00000387239:Y169C	ENSP00000376570:Y169C	Y	+	2	0	GALNT13	154807484	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.293000	0.77203	0.477000	0.44152	TAC		0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		15	55	0	0	0	1	0	15	55				
KIAA2026	158358	broad.mit.edu	37	9	5921802	5921802	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:5921802C>G	ENST00000399933.3	-	8	4193	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N	KIAA2026_ENST00000381461.2_Missense_Mutation_p.K1368N	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1398	Ser-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAATAGAGGACTTCAAGGGAG	0.403																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(4192-4194)aaG>aaC		KIAA2026							161.0	152.0	155.0					9																	5921802		1899	4114	6013	SO:0001583	missense	158358							g.chr9:5921802C>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4194G>C	9.37:g.5921802C>G	ENSP00000382815:p.Lys1398Asn					KIAA2026_ENST00000381461.2_Missense_Mutation_p.K1368N	p.K1398N	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	4193	-		Acute lymphoblastic leukemia(23;0.158)	1398			Ser-rich.		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.4194G>C		.	.	.	.	.	.	.	.	.	.	C	6.461	0.453255	0.12283	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.28	3.33	0.38152	.	0.532334	0.17522	N	0.171229	T	0.20373	0.0490	N	0.24115	0.695	0.21933	N	0.999463	D	0.54207	0.965	P	0.44811	0.461	T	0.05683	-1.0870	9	0.18276	T	0.48	-4.5656	9.5441	0.39271	0.3497:0.6503:0.0:0.0	.	1398	Q5HYC2	K2026_HUMAN	N	1398;1368	.	ENSP00000370870:K1368N	K	-	3	2	KIAA2026	5911802	0.321000	0.24625	1.000000	0.80357	0.652000	0.38707	0.057000	0.14279	2.222000	0.72286	0.484000	0.47621	AAG		0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		37	54	0	0	0	1	0	37	54				
TOPORS	10210	broad.mit.edu	37	9	32542340	32542340	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:32542340G>C	ENST00000360538.2	-	3	2299	c.2183C>G	c.(2182-2184)gCt>gGt	p.A728G	TOPORS_ENST00000379858.1_Missense_Mutation_p.A663G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	728	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGAATAATGAGCTCTGGACAG	0.378																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2182-2184)gCt>gGt		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							170.0	179.0	176.0					9																	32542340		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542340G>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2183C>G	9.37:g.32542340G>C	ENSP00000353735:p.Ala728Gly					TOPORS_ENST00000379858.1_Missense_Mutation_p.A663G	p.A728G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2299	-			728			Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2183C>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.045032	0.36085	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15952	2.38;2.39	6.16	5.26	0.73747	.	0.000000	0.50627	D	0.000118	T	0.09730	0.0239	N	0.14661	0.345	0.29837	N	0.82953	B	0.24920	0.114	B	0.21360	0.034	T	0.06752	-1.0809	10	0.34782	T	0.22	-10.7698	9.3759	0.38283	0.0771:0.1436:0.7793:0.0	.	728	Q9NS56	TOPRS_HUMAN	G	728;663	ENSP00000353735:A728G;ENSP00000369187:A663G	ENSP00000353735:A728G	A	-	2	0	TOPORS	32532340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.556000	0.45862	2.937000	0.99478	0.650000	0.86243	GCT		0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		49	104	0	0	0	1	0	49	104				
LYPLAL1	127018	broad.mit.edu	37	1	219383944	219383944	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:219383944A>G	ENST00000366928.5	+	4	479	c.432A>G	c.(430-432)gtA>gtG	p.V144V	LYPLAL1_ENST00000366927.3_Silent_p.V128V|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	144					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGGCAGGAGTATTTGCTCTTT	0.299																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.(430-432)gtA>gtG		lysophospholipase-like 1							75.0	76.0	75.0					1																	219383944		2203	4299	6502	SO:0001819	synonymous_variant	127018					cytoplasm	lysophospholipase activity	g.chr1:219383944A>G	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.432A>G	1.37:g.219383944A>G						LYPLAL1_ENST00000366927.3_Silent_p.V128V|LYPLAL1_ENST00000483635.1_3'UTR	p.V144V	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	4	479	+			144					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Silent	SNP	ENST00000366928.5	37	c.432A>G	CCDS1522.1																																																																																				0.299	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		37	31	0	0	0	1	0	37	31				
XDH	7498	broad.mit.edu	37	2	31589782	31589782	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:31589782C>T	ENST00000379416.3	-	21	2324	c.2276G>A	c.(2275-2277)gGg>gAg	p.G759E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	759					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTCCATCTCCCCTGCCTCGCC	0.552																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2275-2277)gGg>gAg		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						165.0	141.0	149.0					2																	31589782		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31589782C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2276G>A	2.37:g.31589782C>T	ENSP00000368727:p.Gly759Glu						p.G759E	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			21	2324	-	Acute lymphoblastic leukemia(172;0.155)		759					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2276G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567315	0.65651	.	.	ENSG00000158125	ENST00000379416	T	0.51817	0.69	5.84	5.84	0.93424	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73607	-0.3929	10	0.44086	T	0.13	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	759	P47989	XDH_HUMAN	E	759	ENSP00000368727:G759E	ENSP00000368727:G759E	G	-	2	0	XDH	31443286	1.000000	0.71417	0.991000	0.47740	0.192000	0.23643	7.762000	0.85270	2.765000	0.95021	0.655000	0.94253	GGG		0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		32	142	0	0	0	1	0	32	142				
CSPG4	1464	broad.mit.edu	37	15	75980081	75980081	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:75980081C>T	ENST00000308508.5	-	3	3417	c.3325G>A	c.(3325-3327)Gac>Aac	p.D1109N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1109	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGTTGCCCGTCGGACACCTGC	0.657																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3325-3327)Gac>Aac		chondroitin sulfate proteoglycan 4							53.0	53.0	53.0					15																	75980081		2196	4289	6485	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980081C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3325G>A	15.37:g.75980081C>T	ENSP00000312506:p.Asp1109Asn						p.D1109N	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3417	-			1109			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3325G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.164979	0.78339	.	.	ENSG00000173546	ENST00000308508	T	0.52526	0.66	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.70395	0.3219	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74565	-0.3623	10	0.66056	D	0.02	.	17.455	0.87604	0.0:1.0:0.0:0.0	.	1109	Q6UVK1	CSPG4_HUMAN	N	1109	ENSP00000312506:D1109N	ENSP00000312506:D1109N	D	-	1	0	CSPG4	73767136	1.000000	0.71417	0.303000	0.25071	0.521000	0.34408	7.813000	0.86123	2.356000	0.79943	0.555000	0.69702	GAC		0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		21	75	0	0	0	1	0	21	75				
KCNJ1	3758	broad.mit.edu	37	11	128712308	128712308	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:128712308T>C	ENST00000392664.2	-	1	121	c.5A>G	c.(4-6)aAt>aGt	p.N2S	KCNJ1_ENST00000392666.1_Intron|KCNJ1_ENST00000324036.3_Intron|KCNJ1_ENST00000440599.2_Intron|KCNJ1_ENST00000392665.2_Intron	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	2					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ACTGGAAGCATTCATGGCTGG	0.448																																						ENST00000392664.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(4-6)aAt>aGt		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						126.0	114.0	118.0					11																	128712308		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128712308T>C	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.5A>G	11.37:g.128712308T>C	ENSP00000376432:p.Asn2Ser					KCNJ1_ENST00000440599.2_Intron|KCNJ1_ENST00000392665.2_Intron|KCNJ1_ENST00000392666.1_Intron|KCNJ1_ENST00000324036.3_Intron	p.N2S	NM_000220.4	NP_000211.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	1	121	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	2					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.5A>G	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	T	8.282	0.815812	0.16607	.	.	ENSG00000151704	ENST00000392664	D	0.88586	-2.4	4.34	-0.938	0.10412	.	6.147490	0.00166	N	0.000001	T	0.76285	0.3966	N	0.08118	0	0.30734	N	0.746871	B	0.06786	0.001	B	0.04013	0.001	T	0.65809	-0.6078	10	0.27082	T	0.32	.	4.218	0.10544	0.0:0.287:0.1716:0.5414	.	2	P48048	IRK1_HUMAN	S	2	ENSP00000376432:N2S	ENSP00000376432:N2S	N	-	2	0	KCNJ1	128217518	0.059000	0.20769	0.076000	0.20297	0.014000	0.08584	0.258000	0.18387	-0.164000	0.10927	-0.290000	0.09829	AAT		0.448	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		13	46	0	0	0	1	0	13	46				
KPTN	11133	broad.mit.edu	37	19	47980089	47980089	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:47980089G>T	ENST00000338134.3	-	10	1077	c.970C>A	c.(970-972)Cca>Aca	p.P324T	KPTN_ENST00000536339.1_Missense_Mutation_p.P84T	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	324					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGACTTCTGGCCGCCCATCC	0.622																																						ENST00000338134.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(970-972)Cca>Aca		kaptin (actin binding protein)							22.0	27.0	25.0					19																	47980089		2010	4180	6190	SO:0001583	missense	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47980089G>T	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.970C>A	19.37:g.47980089G>T	ENSP00000337850:p.Pro324Thr					KPTN_ENST00000536339.1_Missense_Mutation_p.P84T	p.P324T	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	10	1077	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	324					B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	c.970C>A	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174903	0.38413	.	.	ENSG00000118162	ENST00000338134;ENST00000536339	T;T	0.40476	1.03;1.95	5.28	5.28	0.74379	.	0.297899	0.37906	N	0.001898	T	0.42653	0.1212	M	0.61703	1.905	0.27954	N	0.937024	B	0.30973	0.302	B	0.26310	0.068	T	0.40213	-0.9575	10	0.39692	T	0.17	-8.7539	17.683	0.88249	0.0:0.0:1.0:0.0	.	324	Q9Y664	KPTN_HUMAN	T	324;84	ENSP00000337850:P324T;ENSP00000442579:P84T	ENSP00000337850:P324T	P	-	1	0	KPTN	52671901	1.000000	0.71417	0.085000	0.20634	0.900000	0.52787	3.922000	0.56462	2.451000	0.82905	0.561000	0.74099	CCA		0.622	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			4	7	1	0	1.23904e-05	1	1.2935e-05	4	7				
GRM3	2913	broad.mit.edu	37	7	86415986	86415986	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:86415986C>A	ENST00000361669.2	+	3	1977	c.878C>A	c.(877-879)gCc>gAc	p.A293D	GRM3_ENST00000394720.2_Missense_Mutation_p.A291D|GRM3_ENST00000439827.1_Missense_Mutation_p.A293D|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A165D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	293					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CGCGCCAATGCCTCCTTCACC	0.672																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(877-879)gCc>gAc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						32.0	38.0	36.0					7																	86415986		2201	4289	6490	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415986C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.878C>A	7.37:g.86415986C>A	ENSP00000355316:p.Ala293Asp					GRM3_ENST00000439827.1_Missense_Mutation_p.A293D|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A291D|GRM3_ENST00000536043.1_Missense_Mutation_p.A165D	p.A293D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1977	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		293					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.878C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.891992	0.52014	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.210963	0.49916	D	0.000128	D	0.88119	0.6351	L	0.49350	1.555	0.54753	D	0.999985	B;D;B	0.54772	0.007;0.968;0.003	B;P;B	0.55824	0.018;0.785;0.052	D	0.83848	0.0261	10	0.16896	T	0.51	.	12.8046	0.57605	0.0:0.9186:0.0:0.0814	.	165;293;293	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	D	293;165;165;293;291	ENSP00000355316:A293D;ENSP00000405427:A165D;ENSP00000441407:A165D;ENSP00000398767:A293D;ENSP00000378209:A291D	ENSP00000355316:A293D	A	+	2	0	GRM3	86253922	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.793000	0.62474	2.885000	0.99019	0.655000	0.94253	GCC		0.672	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			47	92	1	0	1.83081e-24	1	2.12106e-24	47	92				
STRAP	11171	broad.mit.edu	37	12	16048404	16048404	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:16048404A>G	ENST00000419869.2	+	6	925	c.612A>G	c.(610-612)cgA>cgG	p.R204R	STRAP_ENST00000538352.1_Silent_p.R110R|STRAP_ENST00000025399.6_Silent_p.R217R	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	204					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CTTATGGACGATCTATTGCTT	0.313																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(610-612)cgA>cgG		serine/threonine kinase receptor associated protein							74.0	76.0	75.0					12																	16048404		2202	4297	6499	SO:0001819	synonymous_variant	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16048404A>G	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.612A>G	12.37:g.16048404A>G						STRAP_ENST00000538352.1_Silent_p.R110R|STRAP_ENST00000025399.6_Silent_p.R217R	p.R204R	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			6	925	+		Hepatocellular(102;0.121)	204					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Silent	SNP	ENST00000419869.2	37	c.612A>G	CCDS8676.1																																																																																				0.313	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		46	92	0	0	0	1	0	46	92				
SEMA4D	10507	broad.mit.edu	37	9	92008515	92008515	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:92008515G>A	ENST00000450295.1	-	7	1246	c.470C>T	c.(469-471)cCc>cTc	p.P157L	SEMA4D_ENST00000343780.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P157L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P157L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	157	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGGTCAAAGGGACATCTTCC	0.428																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(469-471)cCc>cTc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							269.0	206.0	228.0					9																	92008515		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92008515G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.470C>T	9.37:g.92008515G>A	ENSP00000416523:p.Pro157Leu					SEMA4D_ENST00000343780.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P157L	p.P157L			Q92854	SEM4D_HUMAN			7	1246	-			157			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.470C>T	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087642	0.94100	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.52	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.051665	0.85682	D	0.000000	D	0.84257	0.5432	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90052	0.4150	10	0.87932	D	0	.	17.8007	0.88586	0.0:0.0:1.0:0.0	.	157;157	Q92854-2;Q92854	.;SEM4D_HUMAN	L	157	ENSP00000344923:P157L;ENSP00000391733:P157L;ENSP00000411981:P157L;ENSP00000343418:P157L;ENSP00000416523:P157L;ENSP00000405102:P157L;ENSP00000348822:P157L;ENSP00000388768:P157L	ENSP00000344923:P157L	P	-	2	0	SEMA4D	91198335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.086000	0.94088	2.503000	0.84419	0.655000	0.94253	CCC		0.428	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		31	66	0	0	0	1	0	31	66				
LOXL3	84695	broad.mit.edu	37	2	74779668	74779668	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:74779668C>T	ENST00000264094.3	-	2	165	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.G32S|DOK1_ENST00000340004.6_5'Flank|DOK1_ENST00000233668.5_5'Flank|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409549.1_Missense_Mutation_p.G32S|LOXL3_ENST00000409986.1_Missense_Mutation_p.G32S|LOXL3_ENST00000409249.1_Missense_Mutation_p.G32S	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	32					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TTCTCAGGGCCCGTGGAAGGG	0.677																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(94-96)Ggc>Agc		lysyl oxidase-like 3							14.0	16.0	15.0					2																	74779668		2199	4293	6492	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74779668C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.94G>A	2.37:g.74779668C>T	ENSP00000264094:p.Gly32Ser					LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000393937.2_Missense_Mutation_p.G32S|LOXL3_ENST00000409249.1_Missense_Mutation_p.G32S|LOXL3_ENST00000409986.1_Missense_Mutation_p.G32S|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G32S	p.G32S	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			2	165	-			32					D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.94G>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	5.219	0.225998	0.09916	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.01252	5.21;5.1;5.19;5.24;5.19;5.1	4.72	1.58	0.23477	.	1.798660	0.03329	N	0.193072	T	0.00875	0.0029	N	0.02539	-0.55	0.09310	N	0.999994	B;B;B;B	0.23806	0.03;0.002;0.091;0.0	B;B;B;B	0.25506	0.031;0.003;0.061;0.0	T	0.44143	-0.9347	10	0.14656	T	0.56	.	6.249	0.20835	0.0:0.6604:0.0:0.3396	.	32;32;32;32	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	S	32	ENSP00000264094:G32S;ENSP00000387103:G32S;ENSP00000377512:G32S;ENSP00000386696:G32S;ENSP00000386545:G32S;ENSP00000398260:G32S	ENSP00000264094:G32S	G	-	1	0	LOXL3	74633176	0.000000	0.05858	0.077000	0.20336	0.945000	0.59286	-0.101000	0.10973	0.562000	0.29204	0.555000	0.69702	GGC		0.677	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		15	31	0	0	0	1	0	15	31				
PPP1R9A	55607	broad.mit.edu	37	7	94539795	94539795	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:94539795A>G	ENST00000433881.1	+	2	902	c.370A>G	c.(370-372)Att>Gtt	p.I124V	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.I124V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.I124V			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	124	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTGAACGAATTAGTAGATT	0.403										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(370-372)Att>Gtt		protein phosphatase 1, regulatory subunit 9A							125.0	119.0	121.0					7																	94539795		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539795A>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.370A>G	7.37:g.94539795A>G	ENSP00000398870:p.Ile124Val	HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Missense_Mutation_p.I124V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.I124V	p.I124V	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	586	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		124			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.370A>G	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	2.576	-0.298467	0.05532	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.66	5.66	0.87406	.	0.241427	0.42420	D	0.000709	D	0.94046	0.8092	L	0.29908	0.895	0.33526	D	0.593052	D;D;D;B;B	0.63880	0.962;0.993;0.993;0.402;0.402	P;D;D;B;B	0.74674	0.598;0.984;0.984;0.219;0.219	D	0.95170	0.8289	9	.	.	.	.	16.1952	0.82023	1.0:0.0:0.0:0.0	.	124;124;124;124;124	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	V	124	ENSP00000405514:I124V;ENSP00000344524:I124V;ENSP00000411342:I124V;ENSP00000398870:I124V;ENSP00000289495:I124V;ENSP00000402893:I124V	.	I	+	1	0	PPP1R9A	94377731	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	3.937000	0.56575	2.289000	0.77006	0.482000	0.46254	ATT		0.403	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		25	199	0	0	0	1	0	25	199				
GPR98	84059	broad.mit.edu	37	5	90021381	90021381	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:90021381A>G	ENST00000405460.2	+	48	10165	c.10069A>G	c.(10069-10071)Att>Gtt	p.I3357V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3357					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACAATCATTATTCTGGAAAG	0.343																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10069-10071)Att>Gtt		G protein-coupled receptor 98							93.0	91.0	91.0					5																	90021381		1815	4085	5900	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90021381A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10069A>G	5.37:g.90021381A>G	ENSP00000384582:p.Ile3357Val						p.I3357V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	48	10165	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3357					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10069A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.787775	0.00628	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.25579	1.79	5.0	-0.268	0.12934	.	0.389892	0.28052	N	0.016790	T	0.14098	0.0341	L	0.32530	0.975	0.19300	N	0.99998	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.20140	-1.0284	10	0.22706	T	0.39	.	5.4077	0.16330	0.4954:0.0:0.3716:0.133	.	3357;3357	E7ETI5;Q8WXG9	.;GPR98_HUMAN	V	3357	ENSP00000384582:I3357V	ENSP00000296619:I3357V	I	+	1	0	GPR98	90057137	0.005000	0.15991	0.370000	0.25965	0.222000	0.24845	0.062000	0.14389	0.025000	0.15241	0.416000	0.27883	ATT		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		23	48	0	0	0	1	0	23	48				
EBF1	1879	broad.mit.edu	37	5	158140013	158140013	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:158140013A>T	ENST00000313708.6	-	13	1616	c.1334T>A	c.(1333-1335)gTg>gAg	p.V445E	EBF1_ENST00000380654.4_Missense_Mutation_p.V414E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.V437E	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	445					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGACATTCACGGCCAGTTG	0.542			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1333-1335)gTg>gAg		early B-cell factor 1							113.0	98.0	103.0					5																	158140013		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140013A>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1334T>A	5.37:g.158140013A>T	ENSP00000322898:p.Val445Glu					EBF1_ENST00000517373.1_Missense_Mutation_p.V437E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.V414E	p.V445E	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1616	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	445					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1334T>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.597902	0.87055	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.49139	0.79;0.79;0.79	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.82716	2.605	0.80722	D	1	D;D;P;D	0.76494	0.999;0.996;0.91;0.973	P;D;P;P	0.72982	0.869;0.979;0.638;0.848	T	0.75528	-0.3286	10	0.62326	D	0.03	-5.8403	16.3483	0.83171	1.0:0.0:0.0:0.0	.	445;432;445;414	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	E	445;445;414;437	ENSP00000322898:V445E;ENSP00000370029:V414E;ENSP00000428020:V437E	ENSP00000322898:V445E	V	-	2	0	EBF1	158072591	1.000000	0.71417	0.932000	0.37286	0.969000	0.65631	8.483000	0.90442	2.254000	0.74563	0.533000	0.62120	GTG		0.542	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		4	78	0	0	0	1	0	4	78				
CENPJ	55835	broad.mit.edu	37	13	25480447	25480447	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:25480447C>T	ENST00000381884.4	-	7	1914	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E577K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	577					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AACAAAAATTCATCTAATTCC	0.343																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1729-1731)Gaa>Aaa		centromere protein J							47.0	53.0	51.0					13																	25480447		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480447C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1729G>A	13.37:g.25480447C>T	ENSP00000371308:p.Glu577Lys					CENPJ_ENST00000545981.1_Missense_Mutation_p.E577K	p.E577K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1914	-		Lung SC(185;0.0225)|Breast(139;0.0602)	577					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1729G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897115	0.91962	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.71341	-0.56;-0.04	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	M	0.78637	2.42	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.84442	0.0583	10	0.51188	T	0.08	.	19.3381	0.94329	0.0:1.0:0.0:0.0	.	577	Q9HC77	CENPJ_HUMAN	K	577	ENSP00000371308:E577K;ENSP00000441090:E577K	ENSP00000371308:E577K	E	-	1	0	CENPJ	24378447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.101000	0.76997	2.854000	0.98071	0.655000	0.94253	GAA		0.343	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		14	57	0	0	0	1	0	14	57				
LTBP2	4053	broad.mit.edu	37	14	74989534	74989534	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:74989534C>A	ENST00000261978.4	-	16	3004	c.2618G>T	c.(2617-2619)aGc>aTc	p.S873I	LTBP2_ENST00000556690.1_Missense_Mutation_p.S873I	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	873	Cys-rich.|EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTAGCCAGGGCTGCAGACACA	0.617																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2617-2619)aGc>aTc		latent transforming growth factor beta binding protein 2							54.0	39.0	44.0					14																	74989534		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74989534C>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2618G>T	14.37:g.74989534C>A	ENSP00000261978:p.Ser873Ile					LTBP2_ENST00000556690.1_Missense_Mutation_p.S873I	p.S873I	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	16	3004	-			873			Cys-rich.|EGF-like 4.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2618G>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319393	0.23994	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92495	-3.05;-3.05	4.75	0.955	0.19602	Epidermal growth factor-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.406252	0.20945	N	0.082845	D	0.87038	0.6078	L	0.35487	1.065	0.19945	N	0.999945	P	0.48911	0.917	P	0.48598	0.583	T	0.78226	-0.2286	10	0.22109	T	0.4	.	7.381	0.26856	0.0:0.5512:0.0:0.4488	.	873	Q14767	LTBP2_HUMAN	I	873	ENSP00000261978:S873I;ENSP00000451477:S873I	ENSP00000261978:S873I	S	-	2	0	LTBP2	74059287	0.019000	0.18553	0.979000	0.43373	0.053000	0.15095	-0.339000	0.07832	0.006000	0.14734	0.655000	0.94253	AGC		0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		6	33	1	0	0.00307968	1	0.00313467	6	33				
GBP3	2635	broad.mit.edu	37	1	89474782	89474782	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:89474782T>C	ENST00000370481.4	-	10	1727	c.1507A>G	c.(1507-1509)Atg>Gtg	p.M503V		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0	Sufficient for membrane association.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCCTCCACCATTTTTGCTGAA	0.388																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(1507-1509)Atg>Gtg		guanylate binding protein 3							159.0	136.0	143.0					1																	89474782		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89474782T>C	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1507A>G	1.37:g.89474782T>C	ENSP00000359512:p.Met503Val						p.M503V	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	10	1727	-		Lung NSC(277;0.123)	503					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.1507A>G	CCDS717.2	.	.	.	.	.	.	.	.	.	.	T	3.643	-0.073059	0.07228	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000445969	T;T	0.52754	0.65;0.65	3.66	0.988	0.19796	Guanylate-binding protein, C-terminal (3);	1.374960	0.04084	N	0.310239	T	0.19644	0.0472	L	0.58925	1.835	0.09310	N	1	B;B	0.20052	0.041;0.008	B;B	0.15870	0.014;0.011	T	0.09422	-1.0675	10	0.22109	T	0.4	.	4.4137	0.11445	0.0:0.1153:0.4066:0.478	.	369;503	F6X827;Q9H0R5	.;GBP3_HUMAN	V	471;503;83	ENSP00000359512:M503V;ENSP00000415087:M83V	ENSP00000359512:M503V	M	-	1	0	GBP3	89247370	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-0.490000	0.06482	0.559000	0.29153	0.496000	0.49642	ATG		0.388	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		7	97	0	0	0	1	0	7	97				
RIOK3	8780	broad.mit.edu	37	18	21053550	21053550	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:21053550A>G	ENST00000339486.3	+	8	1590	c.973A>G	c.(973-975)Atc>Gtc	p.I325V	RIOK3_ENST00000581585.1_Missense_Mutation_p.I309V|RIOK3_ENST00000577501.1_Missense_Mutation_p.I325V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	325	Protein kinase.			I -> H (in Ref. 1; AAC26080). {ECO:0000305}.	chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACGTAAGATCATCCGCATGTG	0.323																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(973-975)Atc>Gtc		RIO kinase 3							64.0	59.0	61.0					18																	21053550		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21053550A>G	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.973A>G	18.37:g.21053550A>G	ENSP00000341874:p.Ile325Val					RIOK3_ENST00000577501.1_Missense_Mutation_p.I325V|RIOK3_ENST00000581585.1_Missense_Mutation_p.I309V	p.I325V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			8	1590	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		325	I -> H (in Ref. 1; AAC26080).		Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.973A>G	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549995	0.45383	.	.	ENSG00000101782	ENST00000339486	T	0.05925	3.37	5.05	5.05	0.67936	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	N	0.16233	0.39	0.58432	D	0.999999	P;P;D	0.54047	0.863;0.955;0.964	P;P;P	0.49276	0.605;0.47;0.605	T	0.53165	-0.8477	10	0.17832	T	0.49	2.1405	14.8437	0.70243	1.0:0.0:0.0:0.0	.	309;325;325	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	V	325	ENSP00000341874:I325V	ENSP00000341874:I325V	I	+	1	0	RIOK3	19307548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.253000	0.95501	1.904000	0.55121	0.472000	0.43445	ATC		0.323	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		29	16	0	0	0	1	0	29	16				
TAAR1	134864	broad.mit.edu	37	6	132966643	132966643	+	Missense_Mutation	SNP	C	C	T	rs538751400		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:132966643C>T	ENST00000275216.1	-	1	499	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	167					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	CTCTTCAGCGCCTTTGAAGTT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		20287	0.001		0.0	False		,,,				2504	0.0					ENST00000275216.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(499-501)gGc>gAc		trace amine associated receptor 1	Amphetamine(DB00182)						68.0	71.0	70.0					6																	132966643		2202	4299	6501	SO:0001583	missense	134864					plasma membrane		g.chr6:132966643C>T	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.500G>A	6.37:g.132966643C>T	ENSP00000275216:p.Gly167Asp						p.G167D	NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	499	-	Breast(56;0.135)		167					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.500G>A	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208112	0.58343	.	.	ENSG00000146399	ENST00000275216	T	0.71579	-0.58	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	L	0.61218	1.895	0.53688	D	0.999973	B	0.32862	0.387	B	0.37091	0.241	T	0.68880	-0.5292	10	0.62326	D	0.03	-10.4082	20.3396	0.98756	0.0:1.0:0.0:0.0	.	167	Q96RJ0	TAAR1_HUMAN	D	167	ENSP00000275216:G167D	ENSP00000275216:G167D	G	-	2	0	TAAR1	133008336	0.991000	0.36638	0.977000	0.42913	0.321000	0.28281	2.882000	0.48546	2.812000	0.96745	0.555000	0.69702	GGC		0.373	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		39	55	0	0	0	1	0	39	55				
MRPL46	26589	broad.mit.edu	37	15	89010583	89010583	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:89010583A>G	ENST00000312475.4	-	1	67	c.26T>C	c.(25-27)cTg>cCg	p.L9P	MRPL46_ENST00000559538.1_5'Flank|MRPS11_ENST00000325844.4_5'Flank|MRPS11_ENST00000353598.6_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	9						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCCCTAACAGCGTCCGCCT	0.672																																						ENST00000312475.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(25-27)cTg>cCg		mitochondrial ribosomal protein L46							10.0	14.0	13.0					15																	89010583		2185	4268	6453	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89010583A>G	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.26T>C	15.37:g.89010583A>G	ENSP00000312311:p.Leu9Pro						p.L9P	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		1	67	-	Lung NSC(78;0.203)		9					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.26T>C	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089909	0.55968	.	.	ENSG00000173867	ENST00000312475	T	0.51574	0.7	4.41	4.41	0.53225	.	0.496609	0.21694	N	0.070528	T	0.25791	0.0628	N	0.08118	0	0.22001	N	0.999429	B	0.15719	0.014	B	0.15052	0.012	T	0.09773	-1.0659	10	0.37606	T	0.19	.	8.3309	0.32187	0.9053:0.0:0.0947:0.0	.	9	Q9H2W6	RM46_HUMAN	P	9	ENSP00000312311:L9P	ENSP00000312311:L9P	L	-	2	0	MRPL46	86811587	0.015000	0.18098	0.003000	0.11579	0.097000	0.18754	2.571000	0.45990	1.964000	0.57103	0.533000	0.62120	CTG		0.672	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		4	3	0	0	0	1	0	4	3				
SOX6	55553	broad.mit.edu	37	11	16071484	16071484	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:16071484C>G	ENST00000352083.6	-	11	1329	c.1252G>C	c.(1252-1254)Gat>Cat	p.D418H	SOX6_ENST00000528252.1_Splice_Site_p.D377H|SOX6_ENST00000316399.6_Splice_Site_p.D418H|SOX6_ENST00000527619.1_Splice_Site_p.D380H|SOX6_ENST00000396356.3_Splice_Site_p.D418H|SOX6_ENST00000528429.1_Splice_Site_p.D418H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	418					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCTGCTTCATCCTACAAGAGT	0.443																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.e11-1		SRY (sex determining region Y)-box 6							146.0	153.0	151.0					11																	16071484		2200	4294	6494	SO:0001630	splice_region_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16071484C>G	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1252-1G>C	11.37:g.16071484C>G						SOX6_ENST00000528429.1_Splice_Site_p.D418_splice|SOX6_ENST00000528252.1_Splice_Site_p.D377_splice|SOX6_ENST00000396356.3_Splice_Site_p.D418_splice|SOX6_ENST00000527619.1_Splice_Site_p.D380_splice|SOX6_ENST00000316399.6_Splice_Site_p.D418_splice	p.D418_splice			P35712	SOX6_HUMAN			11	1329	-			418					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Splice_Site	SNP	ENST00000352083.6	37	c.1251_splice		.	.	.	.	.	.	.	.	.	.	C	21.6	4.178585	0.78564	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98264	-4.7;-4.83;-4.7;-4.74;-4.74;-4.83	6.01	6.01	0.97437	.	0.089936	0.85682	D	0.000000	D	0.98327	0.9445	L	0.42245	1.32	0.80722	D	1	P;P;D	0.71674	0.941;0.904;0.998	P;P;D	0.67382	0.735;0.764;0.951	D	0.98302	1.0519	10	0.41790	T	0.15	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	418;418;380	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	418;418;418;377;380;418	ENSP00000324948:D418H;ENSP00000339876:D418H;ENSP00000379644:D418H;ENSP00000432134:D377H;ENSP00000434455:D380H;ENSP00000433233:D418H	ENSP00000324948:D418H	D	-	1	0	SOX6	16028060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.475000	0.66787	2.861000	0.98227	0.650000	0.86243	GAT		0.443	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	Missense_Mutation	10	138	0	0	0	1	0	10	138				
MYO6	4646	broad.mit.edu	37	6	76558166	76558166	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:76558166A>G	ENST00000369977.3	+	11	1135	c.996A>G	c.(994-996)gaA>gaG	p.E332E	MYO6_ENST00000369975.1_Silent_p.E332E|MYO6_ENST00000369981.3_Silent_p.E332E|MYO6_ENST00000369985.4_Silent_p.E332E	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	332	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGGATGATGAAGAAAAGCTTG	0.403																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(994-996)gaA>gaG		myosin VI							137.0	136.0	136.0					6																	76558166		2203	4300	6503	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76558166A>G	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.996A>G	6.37:g.76558166A>G						MYO6_ENST00000369977.3_Silent_p.E332E|MYO6_ENST00000369985.4_Silent_p.E332E|MYO6_ENST00000369975.1_Silent_p.E332E	p.E332E			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	11	1275	+		all_hematologic(105;0.189)	332			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.996A>G	CCDS34487.1																																																																																				0.403	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		41	85	0	0	0	1	0	41	85				
OR8D1	283159	broad.mit.edu	37	11	124180230	124180230	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:124180230C>G	ENST00000357821.2	-	1	503	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGCCAGCACTAGCAGTGAG	0.473																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(433-435)Gtg>Ctg		olfactory receptor, family 8, subfamily D, member 1							75.0	66.0	69.0					11																	124180230		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180230C>G	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.433G>C	11.37:g.124180230C>G	ENSP00000350474:p.Val145Leu						p.V145L	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	503	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	145					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.433G>C	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	c	9.456	1.091883	0.20471	.	.	ENSG00000196341	ENST00000357821	T	0.36878	1.23	4.29	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.263088	0.19534	U	0.111971	T	0.26304	0.0642	L	0.39397	1.21	0.09310	N	1	B	0.15141	0.012	B	0.22880	0.042	T	0.18681	-1.0329	10	0.37606	T	0.19	.	10.1744	0.42931	0.0:0.6537:0.0:0.3463	.	145	Q8WZ84	OR8D1_HUMAN	L	145	ENSP00000350474:V145L	ENSP00000350474:V145L	V	-	1	0	OR8D1	123685440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.243000	0.08915	-0.580000	0.05944	-0.506000	0.04501	GTG		0.473	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		17	15	0	0	0	1	0	17	15				
DTWD2	285605	broad.mit.edu	37	5	118176728	118176728	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:118176728G>T	ENST00000510708.1	-	6	814	c.781C>A	c.(781-783)Caa>Aaa	p.Q261K	DTWD2_ENST00000304058.4_Missense_Mutation_p.Q195K|DTWD2_ENST00000515439.3_Missense_Mutation_p.Q165K	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	261										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AGGCGAATTTGGGCACCATGC	0.383																																						ENST00000304058.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13						c.(583-585)Caa>Aaa		DTW domain containing 2							94.0	83.0	87.0					5																	118176728		2202	4300	6502	SO:0001583	missense	285605							g.chr5:118176728G>T		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.781C>A	5.37:g.118176728G>T	ENSP00000425048:p.Gln261Lys					DTWD2_ENST00000515439.3_Missense_Mutation_p.Q165K|DTWD2_ENST00000510708.1_Missense_Mutation_p.Q261K	p.Q195K			Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	6	653	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	261						Missense_Mutation	SNP	ENST00000510708.1	37	c.583C>A	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415409	0.83449	.	.	ENSG00000169570	ENST00000304058;ENST00000510708;ENST00000515439	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	L	0.47716	1.5	0.58432	D	0.999999	D	0.59357	0.985	P	0.47206	0.541	T	0.53012	-0.8498	9	0.06099	T	0.92	-20.5272	18.8194	0.92090	0.0:0.0:1.0:0.0	.	261	Q8NBA8	DTWD2_HUMAN	K	195;261;165	.	ENSP00000302892:Q195K	Q	-	1	0	DTWD2	118204627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.330000	0.79181	2.539000	0.85634	0.650000	0.86243	CAA		0.383	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		15	34	1	0	2.23348e-06	1	2.40205e-06	15	34				
SNHG14	104472715	broad.mit.edu	37	15	25339085	25339085	+	RNA	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:25339085G>A	ENST00000546682.1	+	0	1074				SNHG14_ENST00000549804.2_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-23_ENST00000384645.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CATATGTGGCGTGGGCTTCTT	0.512																																						ENST00000546682.1																			0																																																			104472715							g.chr15:25339085G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25339085G>A						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	1074	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.512	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			13	46	0	0	0	1	0	13	46				
MKRN2	23609	broad.mit.edu	37	3	12616300	12616300	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:12616300T>C	ENST00000170447.7	+	5	789	c.652T>C	c.(652-654)Ttg>Ctg	p.L218L	MKRN2_ENST00000448482.1_Silent_p.L216L|MKRN2_ENST00000411987.1_Silent_p.L175L	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	218	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GATCTGCATGTTGACGTTCGA	0.552																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(652-654)Ttg>Ctg		makorin ring finger protein 2							136.0	116.0	123.0					3																	12616300		2203	4300	6503	SO:0001819	synonymous_variant	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12616300T>C		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.652T>C	3.37:g.12616300T>C						MKRN2_ENST00000411987.1_Silent_p.L175L|MKRN2_ENST00000448482.1_Silent_p.L216L	p.L218L	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			5	789	+			218			Makorin-type Cys-His.		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Silent	SNP	ENST00000170447.7	37	c.652T>C	CCDS33702.1																																																																																				0.552	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		68	35	0	0	0	1	0	68	35				
STEAP4	79689	broad.mit.edu	37	7	87912155	87912155	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:87912155C>T	ENST00000380079.4	-	3	886	c.785G>A	c.(784-786)gGt>gAt	p.G262D	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G262D|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	262	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AGCAATAACACCAGGGAGGTA	0.433																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(784-786)gGt>gAt		STEAP family member 4							105.0	100.0	102.0					7																	87912155		1933	4131	6064	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912155C>T	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.785G>A	7.37:g.87912155C>T	ENSP00000369419:p.Gly262Asp					AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G262D|STEAP4_ENST00000301959.5_Intron	p.G262D	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			3	886	-	Esophageal squamous(14;0.00802)		262			Ferric oxidoreductase.		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.785G>A	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994927	0.74703	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	D;D	0.91843	-2.92;-2.92	6.08	4.2	0.49525	Flavoprotein transmembrane component (1);	0.043102	0.85682	D	0.000000	D	0.96402	0.8826	M	0.90145	3.09	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96738	0.9544	10	0.56958	D	0.05	-7.8404	13.5303	0.61617	0.1251:0.7549:0.12:0.0	.	262;262	C9JS50;Q687X5	.;STEA4_HUMAN	D	262	ENSP00000369419:G262D;ENSP00000394399:G262D	ENSP00000369419:G262D	G	-	2	0	STEAP4	87750091	1.000000	0.71417	0.849000	0.33467	0.964000	0.63967	7.666000	0.83877	1.560000	0.49568	-0.282000	0.10007	GGT		0.433	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		51	131	0	0	0	1	0	51	131				
POLR2A	5430	broad.mit.edu	37	17	7406588	7406588	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7406588A>G	ENST00000322644.6	+	17	3304	c.2905A>G	c.(2905-2907)Atc>Gtc	p.I969V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	969					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCTCAGGGTCATCTTCCCAAC	0.597																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2905-2907)Atc>Gtc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							149.0	140.0	143.0					17																	7406588		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7406588A>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2905A>G	17.37:g.7406588A>G	ENSP00000314949:p.Ile969Val						p.I969V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			17	3304	+		Prostate(122;0.173)	969					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2905A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431243	0.43122	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.67865	-0.29	5.25	5.25	0.73442	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	L	0.28115	0.83	0.80722	D	1	B	0.18166	0.026	B	0.33960	0.173	T	0.60662	-0.7219	10	0.66056	D	0.02	-15.4863	14.5589	0.68120	1.0:0.0:0.0:0.0	.	969	P24928	RPB1_HUMAN	V	925;969	ENSP00000314949:I969V	ENSP00000314949:I969V	I	+	1	0	SLC35G6	7347312	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.478000	0.90428	2.333000	0.79357	0.533000	0.62120	ATC		0.597	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		22	69	0	0	0	1	0	22	69				
CLTC	1213	broad.mit.edu	37	17	57758661	57758661	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:57758661T>A	ENST00000269122.3	+	20	3345	c.3071T>A	c.(3070-3072)cTg>cAg	p.L1024Q	CLTC_ENST00000393043.1_Missense_Mutation_p.L1024Q|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1024	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAAAGGAATCTGCAAAACCTC	0.348			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(3070-3072)cTg>cAg		clathrin, heavy chain (Hc)							66.0	65.0	66.0					17																	57758661		2203	4299	6502	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57758661T>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3071T>A	17.37:g.57758661T>A	ENSP00000269122:p.Leu1024Gln					CLTC_ENST00000393043.1_Missense_Mutation_p.L1024Q|CLTC_ENST00000579456.1_Intron	p.L1024Q	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			20	3345	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1024			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.3071T>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461807	0.84425	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.26223	1.75;1.75	5.41	5.41	0.78517	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	T	0.76465	-0.2949	10	0.87932	D	0	.	15.7418	0.77905	0.0:0.0:0.0:1.0	.	1024;1024	Q00610;Q00610-2	CLH1_HUMAN;.	Q	1024	ENSP00000269122:L1024Q;ENSP00000376763:L1024Q	ENSP00000269122:L1024Q	L	+	2	0	CLTC	55113443	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.997000	0.88414	2.165000	0.68154	0.455000	0.32223	CTG		0.348	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		4	168	0	0	0	1	0	4	168				
IGSF10	285313	broad.mit.edu	37	3	151166279	151166279	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:151166279C>A	ENST00000282466.3	-	4	1489	c.1490G>T	c.(1489-1491)tGc>tTc	p.C497F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	497	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGGCCTGGGCAGTTCAGGCC	0.493																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1489-1491)tGc>tTc		immunoglobulin superfamily, member 10							208.0	200.0	203.0					3																	151166279		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166279C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1490G>T	3.37:g.151166279C>A	ENSP00000282466:p.Cys497Phe						p.C497F	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1489	-			497			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1490G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110026	0.56398	.	.	ENSG00000152580	ENST00000282466	T	0.65178	-0.14	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000097	D	0.85801	0.5781	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90368	0.4378	10	0.87932	D	0	.	18.4741	0.90785	0.0:1.0:0.0:0.0	.	497	Q6WRI0	IGS10_HUMAN	F	497	ENSP00000282466:C497F	ENSP00000282466:C497F	C	-	2	0	IGSF10	152648969	1.000000	0.71417	0.975000	0.42487	0.376000	0.30014	5.781000	0.68964	2.378000	0.81104	0.555000	0.69702	TGC		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		61	288	1	0	1.22119e-34	1	1.44415e-34	61	288				
PCDHB17	54661	broad.mit.edu	37	5	140537133	140537133	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:140537133G>A	ENST00000539533.1	+	1	1557	c.1557G>A	c.(1555-1557)tcG>tcA	p.S519S						protocadherin beta 17 pseudogene																		CCCTCAGGTCGCTGGACTACG	0.667																																						ENST00000539533.1																			0											c.(1555-1557)tcG>tcA																																						SO:0001819	synonymous_variant	54661							g.chr5:140537133G>A	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1557G>A	5.37:g.140537133G>A							p.S519S							1	1557	+									Silent	SNP	ENST00000539533.1	37	c.1557G>A																																																																																					0.667	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	188	0	0	0	1	0	6	188				
TMEM116	89894	broad.mit.edu	37	12	112369503	112369503	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:112369503C>T	ENST00000550831.3	-	10	1028	c.660G>A	c.(658-660)caG>caA	p.Q220Q	TMEM116_ENST00000549537.2_Silent_p.Q126Q|TMEM116_ENST00000354825.3_Silent_p.Q220Q|TMEM116_ENST00000552374.2_Silent_p.Q312Q|TMEM116_ENST00000437003.2_Silent_p.Q220Q|TMEM116_ENST00000355445.3_Silent_p.Q277Q	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	220						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AGAATCTCTTCTGTGAGCATA	0.448																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(658-660)caG>caA		transmembrane protein 116							148.0	136.0	140.0					12																	112369503		2203	4300	6503	SO:0001819	synonymous_variant	89894					integral to membrane		g.chr12:112369503C>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.660G>A	12.37:g.112369503C>T						TMEM116_ENST00000355445.3_Silent_p.Q277Q|TMEM116_ENST00000437003.2_Silent_p.Q220Q|TMEM116_ENST00000549537.2_Silent_p.Q126Q|TMEM116_ENST00000552374.2_Silent_p.Q312Q|TMEM116_ENST00000550831.3_Silent_p.Q220Q	p.Q220Q			Q8NCL8	TM116_HUMAN			13	1315	-			220					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Silent	SNP	ENST00000550831.3	37	c.660G>A	CCDS9157.1																																																																																				0.448	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		59	97	0	0	0	1	0	59	97				
DPYD	1806	broad.mit.edu	37	1	98164960	98164960	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:98164960C>T	ENST00000370192.3	-	6	727	c.627G>A	c.(625-627)ttG>ttA	p.L209L	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	209					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CAGAGTACCCCAATCGAGCCA	0.393																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(625-627)ttG>ttA		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						147.0	145.0	145.0					1																	98164960		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98164960C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.627G>A	1.37:g.98164960C>T						DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	p.L209L	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	6	727	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	209					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.627G>A	CCDS30777.1																																																																																				0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		4	116	0	0	0	1	0	4	116				
STK19	8859	broad.mit.edu	37	6	31940148	31940148	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:31940148T>A	ENST00000375333.2	+	2	343	c.290T>A	c.(289-291)cTc>cAc	p.L97H	DXO_ENST00000375349.3_5'Flank|DXO_ENST00000337523.5_5'Flank|DXO_ENST00000478221.1_5'Flank|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.L97H	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	97					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						TTCTCTTCCCTCCATTCCTAC	0.572																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(289-291)cTc>cAc		serine/threonine kinase 19							99.0	95.0	97.0					6																	31940148		1511	2709	4220	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31940148T>A	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.290T>A	6.37:g.31940148T>A	ENSP00000364482:p.Leu97His					STK19_ENST00000375333.2_Missense_Mutation_p.L97H	p.L97H	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			2	456	+			97					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.290T>A	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261254	0.39995	.	.	ENSG00000204344	ENST00000460018;ENST00000375331;ENST00000375333	T;T;T	0.57752	0.38;1.39;1.38	4.14	0.373	0.16178	.	.	.	.	.	T	0.29423	0.0733	N	0.19112	0.55	0.09310	N	1	D;D;D;D;D	0.65815	0.97;0.995;0.99;0.983;0.97	B;P;P;B;B	0.55824	0.339;0.785;0.634;0.431;0.339	T	0.08186	-1.0734	9	0.87932	D	0	0.0	6.129	0.20195	0.0:0.3245:0.0:0.6755	.	54;97;97;97;54	C9IZ87;B4E0M4;P49842-2;P49842;B7ZLI8	.;.;.;STK19_HUMAN;.	H	97	ENSP00000418350:L97H;ENSP00000364480:L97H;ENSP00000364482:L97H	ENSP00000364480:L97H	L	+	2	0	STK19	32048127	0.036000	0.19791	0.000000	0.03702	0.002000	0.02628	1.281000	0.33214	-0.010000	0.14271	0.533000	0.62120	CTC		0.572	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			23	65	0	0	0	1	0	23	65				
RPP30	10556	broad.mit.edu	37	10	92645569	92645569	+	Splice_Site	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:92645569A>G	ENST00000371703.3	+	6	614	c.343A>G	c.(343-345)Att>Gtt	p.I115V	RPP30_ENST00000413330.1_Splice_Site_p.I115V	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	115					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TTCTTTACAGATTGCTTGCAC	0.353																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.e6-1		ribonuclease P/MRP 30kDa subunit							116.0	108.0	111.0					10																	92645569		2201	4300	6501	SO:0001630	splice_region_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92645569A>G	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.343-1A>G	10.37:g.92645569A>G						RPP30_ENST00000371703.3_Splice_Site_p.I115_splice	p.I115_splice	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			6	378	+			115					B2R799|E9PB02	Splice_Site	SNP	ENST00000371703.3	37	c.342_splice	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	A	8.205	0.799019	0.16397	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.41065	1.03;1.01;1.03	6.03	5.12	0.69794	Polymerase/histidinol phosphatase-like (1);	0.175549	0.50627	N	0.000117	T	0.20495	0.0493	N	0.03608	-0.345	0.32028	N	0.599913	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.001	T	0.14643	-1.0465	9	.	.	.	-17.7146	13.4646	0.61245	0.0774:0.0:0.9226:0.0	.	115;115;115	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	V	115;115;115;137;69	ENSP00000360768:I115V;ENSP00000389182:I115V;ENSP00000277882:I137V	.	I	+	1	0	RPP30	92635549	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.230000	0.51286	1.532000	0.49169	-0.242000	0.12053	ATT		0.353	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413	Missense_Mutation	17	41	0	0	0	1	0	17	41				
ZNRF3	84133	broad.mit.edu	37	22	29445592	29445592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:29445592C>T	ENST00000544604.2	+	8	1598	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q375*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	475					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTACTACTTCCAGGGCCTCAG	0.667																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1423-1425)Cag>Tag		zinc and ring finger 3							34.0	39.0	37.0					22																	29445592		2094	4202	6296	SO:0001587	stop_gained	84133					integral to membrane	zinc ion binding	g.chr22:29445592C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1423C>T	22.37:g.29445592C>T	ENSP00000443824:p.Gln475*					ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q375*	p.Q475*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1598	+			475					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	ENST00000544604.2	37	c.1423C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	37	6.620913	0.97714	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.8126	18.456	0.90721	0.0:1.0:0.0:0.0	.	.	.	.	X	475;375;182;375;375	.	ENSP00000328614:Q375X	Q	+	1	0	ZNRF3	27775592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.231000	0.78106	2.593000	0.87608	0.655000	0.94253	CAG		0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		9	78	0	0	0	1	0	9	78				
MYO15A	51168	broad.mit.edu	37	17	18070934	18070934	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:18070934A>T	ENST00000205890.5	+	62	10317	c.9979A>T	c.(9979-9981)Agc>Tgc	p.S3327C	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.S591C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3327	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGACTCTTCAGCAGTGTGCC	0.667																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9979-9981)Agc>Tgc		myosin XVA							26.0	30.0	29.0					17																	18070934		2038	4194	6232	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18070934A>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9979A>T	17.37:g.18070934A>T	ENSP00000205890:p.Ser3327Cys					MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.S591C	p.S3327C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			62	10317	+	all_neural(463;0.228)		3327			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9979A>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112270	0.37242	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000445289	T	0.72282	-0.64	5.67	4.6	0.57074	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.	.	.	.	T	0.76307	0.3969	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.971;0.997;0.999	D;D;D;D;P	0.66847	0.935;0.947;0.926;0.911;0.887	T	0.75994	-0.3121	9	0.52906	T	0.07	.	11.1529	0.48469	0.9272:0.0:0.0728:0.0	.	316;22;591;3327;334	B4DLV9;B4DMU9;B4DFC7;Q9UKN7;Q8TCK0	.;.;.;MYO15_HUMAN;.	C	3327;316;22	ENSP00000205890:S3327C	ENSP00000205890:S3327C	S	+	1	0	MYO15A	18011659	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.771000	0.68881	0.993000	0.38866	0.482000	0.46254	AGC		0.667	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		8	46	0	0	0	1	0	8	46				
STH	246744	broad.mit.edu	37	17	44076712	44076712	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:44076712G>T	ENST00000537309.1	+	1	97	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000576518.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	23						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						caggtggccggccctcattga	0.542																																						ENST00000537309.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(67-69)Gcc>Tcc		saitohin							67.0	66.0	67.0					17																	44076712		1948	4136	6084	SO:0001583	missense	246744					cytoplasm|nucleus		g.chr17:44076712G>T	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.67G>T	17.37:g.44076712G>T	ENSP00000443168:p.Ala23Ser					MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Intron	p.A23S	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN			1	97	+			23					A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	c.67G>T	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	G	8.395	0.840679	0.16891	.	.	ENSG00000256762	ENST00000537309	T	0.54479	0.57	1.31	0.31	0.15825	.	.	.	.	.	T	0.27098	0.0664	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.41271	0.352	T	0.16070	-1.0415	9	0.87932	D	0	.	3.5118	0.07710	0.2676:0.0:0.7324:0.0	.	23	Q8IWL8	STH_HUMAN	S	23	ENSP00000443168:A23S	ENSP00000443168:A23S	A	+	1	0	STH	41432549	0.001000	0.12720	0.011000	0.14972	0.008000	0.06430	0.547000	0.23299	0.118000	0.18165	0.561000	0.74099	GCC		0.542	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			18	53	1	0	5.3912e-06	1	5.71187e-06	18	53				
HGF	3082	broad.mit.edu	37	7	81339548	81339548	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:81339548A>T	ENST00000222390.5	-	13	1682	c.1456T>A	c.(1456-1458)Tct>Act	p.S486T	HGF_ENST00000457544.2_Missense_Mutation_p.S481T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	486					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTGGCACAAGATATTACGGGA	0.313																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1456-1458)Tct>Act		hepatocyte growth factor (hepapoietin A; scatter factor)							128.0	114.0	118.0					7																	81339548		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81339548A>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1456T>A	7.37:g.81339548A>T	ENSP00000222390:p.Ser486Thr					HGF_ENST00000457544.2_Missense_Mutation_p.S481T	p.S486T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			13	1682	-			486					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1456T>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474143	0.26423	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.87966	-2.32;-2.28	5.2	4.02	0.46733	.	0.276578	0.41001	N	0.000977	T	0.68778	0.3038	N	0.05351	-0.065	0.80722	D	1	B;B	0.16603	0.018;0.01	B;B	0.14578	0.011;0.005	T	0.56786	-0.7921	10	0.20046	T	0.44	.	3.6319	0.08135	0.6862:0.0:0.1248:0.1889	.	481;486	P14210-3;P14210	.;HGF_HUMAN	T	486;481	ENSP00000222390:S486T;ENSP00000391238:S481T	ENSP00000222390:S486T	S	-	1	0	HGF	81177484	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.717000	0.37991	0.884000	0.36064	0.455000	0.32223	TCT		0.313	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		61	87	0	0	0	1	0	61	87				
ANKS1B	56899	broad.mit.edu	37	12	100200410	100200410	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:100200410G>A	ENST00000547776.2	-	4	440	c.441C>T	c.(439-441)ctC>ctT	p.L147L	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.L147L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	147						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTCTTCTAGGAGAACAGCAA	0.418																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(439-441)ctC>ctT		ankyrin repeat and sterile alpha motif domain containing 1B							116.0	112.0	113.0					12																	100200410		1941	4151	6092	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100200410G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.441C>T	12.37:g.100200410G>A						ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.L147L	p.L147L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	4	440	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	147					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.441C>T	CCDS55872.1																																																																																				0.418	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		8	44	0	0	0	1	0	8	44				
SI	6476	broad.mit.edu	37	3	164758727	164758727	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:164758727C>T	ENST00000264382.3	-	18	2222		c.e18+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTAGTACTCACTCATGAAGAA	0.318										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.e18+1		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						113.0	113.0	113.0					3																	164758727		2203	4300	6503	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164758727C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2159+1G>A	3.37:g.164758727C>T		HNSCC(35;0.089)						NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			18	2222	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)						A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37		CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477241	0.63849	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9529	0.71088	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166241421	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	6.878000	0.75567	2.622000	0.88805	0.549000	0.68633	.		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Intron	156	174	0	0	0	1	0	156	174				
TUBGCP2	10844	broad.mit.edu	37	10	135113043	135113043	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:135113043C>T	ENST00000252936.3	-	3	383	c.344G>A	c.(343-345)aGc>aAc	p.S115N	TUBGCP2_ENST00000368563.2_Missense_Mutation_p.S115N|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S115N			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	115					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTGGTACTGCTGCCCACAGC	0.552																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(343-345)aGc>aAc		tubulin, gamma complex associated protein 2							105.0	86.0	93.0					10																	135113043		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135113043C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.344G>A	10.37:g.135113043C>T	ENSP00000252936:p.Ser115Asn					TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S115N|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.S115N	p.S115N	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	4	700	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	115					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.344G>A	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739748	0.49045	.	.	ENSG00000130640	ENST00000252936;ENST00000368563;ENST00000543663	T;T;T	0.15017	2.5;2.5;2.46	5.35	4.44	0.53790	.	0.457912	0.27831	N	0.017664	T	0.14442	0.0349	L	0.46157	1.445	0.80722	D	1	P;P;B	0.39665	0.682;0.554;0.411	B;B;B	0.32677	0.15;0.072;0.072	T	0.05209	-1.0899	10	0.29301	T	0.29	-17.9213	13.41	0.60938	0.0:0.8421:0.1579:0.0	.	115;115;115	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	N	115	ENSP00000252936:S115N;ENSP00000357551:S115N;ENSP00000446093:S115N	ENSP00000252936:S115N	S	-	2	0	TUBGCP2	134963033	0.998000	0.40836	0.078000	0.20375	0.037000	0.13140	3.316000	0.51960	1.379000	0.46325	0.655000	0.94253	AGC		0.552	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			41	37	0	0	0	1	0	41	37				
TBC1D32	221322	broad.mit.edu	37	6	121544496	121544496	+	Silent	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:121544496A>C	ENST00000398212.2	-	21	2416	c.2367T>G	c.(2365-2367)tcT>tcG	p.S789S	TBC1D32_ENST00000275159.6_Silent_p.S789S|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	789					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										GTGCTAAAAAAGACTAGAGGG	0.358																																						ENST00000275159.6																			0											c.(2365-2367)tcT>tcG		TBC1 domain family, member 32							102.0	96.0	98.0					6																	121544496		1838	4082	5920	SO:0001819	synonymous_variant	221322							g.chr6:121544496A>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2367T>G	6.37:g.121544496A>C						TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.S789S	p.S789S							21	2366	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.2367T>G	CCDS43501.1																																																																																				0.358	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		7	145	0	0	0	1	0	7	145				
GRM3	2913	broad.mit.edu	37	7	86415985	86415985	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:86415985G>A	ENST00000361669.2	+	3	1976	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	GRM3_ENST00000394720.2_Missense_Mutation_p.A291T|GRM3_ENST00000439827.1_Missense_Mutation_p.A293T|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A165T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	293					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCGCGCCAATGCCTCCTTCAC	0.672																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(877-879)Gcc>Acc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						32.0	37.0	36.0					7																	86415985		2200	4289	6489	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415985G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.877G>A	7.37:g.86415985G>A	ENSP00000355316:p.Ala293Thr					GRM3_ENST00000439827.1_Missense_Mutation_p.A293T|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A291T|GRM3_ENST00000536043.1_Missense_Mutation_p.A165T	p.A293T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1976	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		293					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.877G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427855	0.43122	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	6.07	2.36	0.29203	Extracellular ligand-binding receptor (1);	0.210963	0.49916	N	0.000128	T	0.77758	0.4178	L	0.28556	0.865	0.46609	D	0.999126	B;B;B	0.19445	0.008;0.036;0.004	B;B;B	0.22601	0.023;0.037;0.04	T	0.64223	-0.6458	10	0.18710	T	0.47	.	10.5549	0.45112	0.2588:0.0:0.7412:0.0	.	165;293;293	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	T	293;165;165;293;291	ENSP00000355316:A293T;ENSP00000405427:A165T;ENSP00000441407:A165T;ENSP00000398767:A293T;ENSP00000378209:A291T	ENSP00000355316:A293T	A	+	1	0	GRM3	86253921	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	3.256000	0.51492	0.169000	0.19679	-0.137000	0.14449	GCC		0.672	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			49	92	0	0	0	1	0	49	92				
GABRR2	2570	broad.mit.edu	37	6	89967693	89967693	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:89967693C>A	ENST00000402938.3	-	9	1227	c.1094G>T	c.(1093-1095)tGc>tTc	p.C365F	GABRR2_ENST00000602399.1_Missense_Mutation_p.C390F	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	365					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TCCACACATGCACGGGAACTA	0.532																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1093-1095)tGc>tTc		gamma-aminobutyric acid (GABA) A receptor, rho 2							53.0	50.0	51.0					6																	89967693		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89967693C>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1094G>T	6.37:g.89967693C>A	ENSP00000386029:p.Cys365Phe					GABRR2_ENST00000602399.1_Missense_Mutation_p.C390F	p.C365F			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	9	1227	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	390					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1094G>T	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115575	0.37339	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.248325	0.51477	D	0.000096	T	0.75657	0.3879	M	0.77486	2.375	0.80722	D	1	P	0.40731	0.728	P	0.53313	0.723	T	0.73004	-0.4119	8	.	.	.	.	20.0951	0.97834	0.0:1.0:0.0:0.0	.	390	P28476	GBRR2_HUMAN	F	390	.	.	C	-	2	0	GABRR2	90024412	1.000000	0.71417	0.783000	0.31826	0.100000	0.18952	7.388000	0.79795	2.766000	0.95052	0.650000	0.86243	TGC		0.532	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			6	25	1	0	2.7689e-08	1	3.02351e-08	6	25				
KRT5	3852	broad.mit.edu	37	12	52913888	52913888	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:52913888G>T	ENST00000252242.4	-	1	583	c.193C>A	c.(193-195)Ctc>Atc	p.L65I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	65	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTTGTAGAGGCTCCGGCTG	0.642																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(193-195)Ctc>Atc		keratin 5							51.0	65.0	61.0					12																	52913888		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913888G>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.193C>A	12.37:g.52913888G>T	ENSP00000252242:p.Leu65Ile						p.L65I	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	583	-			65			Gly-rich.|Head.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.193C>A	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170364	0.57584	.	.	ENSG00000186081	ENST00000252242;ENST00000546577	D;T	0.85629	-2.01;1.49	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000097	D	0.83547	0.5278	M	0.76938	2.355	0.33372	D	0.573722	P	0.40731	0.728	B	0.28139	0.086	D	0.90186	0.4246	10	0.87932	D	0	.	16.7832	0.85567	0.0:0.137:0.863:0.0	.	65	P13647	K2C5_HUMAN	I	65	ENSP00000252242:L65I;ENSP00000449651:L65I	ENSP00000252242:L65I	L	-	1	0	KRT5	51200155	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.017000	0.49615	2.814000	0.96858	0.655000	0.94253	CTC		0.642	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			60	84	1	0	5.19286e-32	1	6.11556e-32	60	84				
APP	351	broad.mit.edu	37	21	27284224	27284224	+	Missense_Mutation	SNP	T	T	C	rs533667466		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:27284224T>C	ENST00000346798.3	-	14	1771	c.1738A>G	c.(1738-1740)Atg>Gtg	p.M580V	APP_ENST00000348990.5_Missense_Mutation_p.M505V|APP_ENST00000440126.3_Missense_Mutation_p.M556V|APP_ENST00000448388.2_Missense_Mutation_p.M470V|APP_ENST00000354192.3_Missense_Mutation_p.M449V|APP_ENST00000359726.3_Missense_Mutation_p.M524V|APP_ENST00000439274.2_Missense_Mutation_p.M524V|APP_ENST00000358918.3_Missense_Mutation_p.M580V|APP_ENST00000357903.3_Missense_Mutation_p.M561V	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	580					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCACTAATCATGTTGGCCAAG	0.443													T|||	1	0.000199681	0.0	0.0	5008	,	,		22174	0.0		0.0	False		,,,				2504	0.001					ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1738-1740)Atg>Gtg		amyloid beta (A4) precursor protein							188.0	127.0	148.0					21																	27284224		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27284224T>C	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1738A>G	21.37:g.27284224T>C	ENSP00000284981:p.Met580Val					APP_ENST00000439274.2_Missense_Mutation_p.M524V|APP_ENST00000346798.3_Missense_Mutation_p.M580V|APP_ENST00000359726.3_Missense_Mutation_p.M524V|APP_ENST00000348990.5_Missense_Mutation_p.M505V|APP_ENST00000354192.3_Missense_Mutation_p.M449V|APP_ENST00000357903.3_Missense_Mutation_p.M561V|APP_ENST00000448388.2_Missense_Mutation_p.M470V|APP_ENST00000440126.3_Missense_Mutation_p.M556V	p.M580V	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			14	1937	-		Breast(209;0.00295)	580					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1738A>G	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865774	0.32977	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	D;D;D;D;D;D;D;D;D;D	0.95885	-1.9;-3.84;-3.84;-1.9;-1.72;-3.84;-3.84;-1.9;-1.9;-2.67	4.76	3.6	0.41247	.	0.137036	0.64402	N	0.000003	D	0.91971	0.7457	L	0.47190	1.495	0.49130	D	0.999751	B;B;B;B;B;B;B	0.13145	0.004;0.002;0.0;0.007;0.0;0.0;0.002	B;B;B;B;B;B;B	0.12156	0.003;0.003;0.0;0.007;0.001;0.0;0.003	D	0.87803	0.2626	10	0.45353	T	0.12	-14.958	9.5853	0.39512	0.0:0.088:0.0:0.912	.	470;524;556;449;505;561;580	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	V	580;449;505;561;580;524;470;556;524;167	ENSP00000284981:M580V;ENSP00000346129:M449V;ENSP00000345463:M505V;ENSP00000350578:M561V;ENSP00000351796:M580V;ENSP00000352760:M524V;ENSP00000388538:M470V;ENSP00000387483:M556V;ENSP00000398879:M524V;ENSP00000397795:M167V	ENSP00000284981:M580V	M	-	1	0	APP	26206095	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.772000	0.55325	0.940000	0.37473	0.459000	0.35465	ATG		0.443	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		79	49	0	0	0	1	0	79	49				
PPM1F	9647	broad.mit.edu	37	22	22279896	22279896	+	Intron	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:22279896T>A	ENST00000263212.5	-	7	1091				PPM1F_ENST00000397495.4_Missense_Mutation_p.K344M|PPM1F_ENST00000407142.1_Intron|PPM1F_ENST00000538191.1_Intron	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F						cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGGCCTGGGCTTCCGAGAGAC	0.632																																						ENST00000397495.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1030-1032)aAg>aTg		protein phosphatase, Mg2+/Mn2+ dependent, 1F							32.0	28.0	29.0					22																	22279896		2203	4300	6503	SO:0001627	intron_variant	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22279896T>A	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.985+45A>T	22.37:g.22279896T>A						PPM1F_ENST00000263212.5_Intron|PPM1F_ENST00000407142.1_Intron|PPM1F_ENST00000538191.1_Intron	p.K344M			P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	7	1130	-	Colorectal(54;0.105)		0					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.1031A>T	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	T	9.017	0.983912	0.18889	.	.	ENSG00000100034	ENST00000397495	T	0.24350	1.86	1.82	-0.674	0.11369	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.09310	N	0.999999	B	0.14012	0.009	B	0.06405	0.002	T	0.32322	-0.9911	7	.	.	.	.	1.4336	0.02339	0.3211:0.2207:0.0:0.4581	.	344	A8MX49	.	M	344	ENSP00000380632:K344M	.	K	-	2	0	PPM1F	20609896	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	-0.668000	0.05268	-0.040000	0.13580	0.379000	0.24179	AAG		0.632	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		12	41	0	0	0	1	0	12	41				
KRT4	3851	broad.mit.edu	37	12	53202524	53202524	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:53202524G>A	ENST00000551956.1	-	5	1437	c.945C>T	c.(943-945)taC>taT	p.Y315Y	KRT4_ENST00000293774.4_Silent_p.Y389Y|KRT4_ENST00000458244.2_Silent_p.Y295Y			P19013	K2C4_HUMAN	keratin 4	329	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.Y389Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CAATCTCCTCGTACTGGGCAC	0.592																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			1	Substitution - coding silent(1)	p.Y389Y(1)	large_intestine(1)	endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(943-945)taC>taT		keratin 4							102.0	93.0	96.0					12																	53202524		2203	4300	6503	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53202524G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.945C>T	12.37:g.53202524G>A						KRT4_ENST00000458244.2_Silent_p.Y295Y|KRT4_ENST00000293774.4_Silent_p.Y389Y	p.Y315Y			B4DRS2	B4DRS2_HUMAN			5	1437	-			315					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.945C>T	CCDS41787.2																																																																																				0.592	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		29	121	0	0	0	1	0	29	121				
CCDC171	203238	broad.mit.edu	37	9	15723736	15723736	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:15723736A>G	ENST00000380701.3	+	13	1811	c.1483A>G	c.(1483-1485)Aat>Gat	p.N495D	CCDC171_ENST00000297641.3_Missense_Mutation_p.N495D	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	495			N -> I (in dbSNP:rs10962127).														TCACACTAAAAATATAAAGGT	0.274																																						ENST00000380701.3																			0											c.(1483-1485)Aat>Gat		coiled-coil domain containing 171							32.0	35.0	34.0					9																	15723736		2195	4265	6460	SO:0001583	missense	203238							g.chr9:15723736A>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1483A>G	9.37:g.15723736A>G	ENSP00000370077:p.Asn495Asp					CCDC171_ENST00000297641.3_Missense_Mutation_p.N495D	p.N495D	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			13	1811	+			495		N -> I (in dbSNP:rs10962127).			B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1483A>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755698	0.31046	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.44881	0.91;0.91	5.66	4.45	0.53987	.	0.820361	0.11527	N	0.555102	T	0.28599	0.0708	N	0.24115	0.695	0.80722	D	1	P;P;P	0.37276	0.589;0.589;0.589	B;B;B	0.33392	0.163;0.085;0.163	T	0.06180	-1.0841	10	0.36615	T	0.2	-4.8921	11.332	0.49482	0.865:0.0:0.0:0.135	.	503;495;495	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	D	495	ENSP00000297641:N495D;ENSP00000370077:N495D	ENSP00000297641:N495D	N	+	1	0	C9orf93	15713736	0.875000	0.30112	1.000000	0.80357	0.996000	0.88848	1.195000	0.32186	2.279000	0.76181	0.533000	0.62120	AAT		0.274	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		18	32	0	0	0	1	0	18	32				
TAS2R41	259287	broad.mit.edu	37	7	143175140	143175140	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:143175140C>A	ENST00000408916.1	+	1	175	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	59					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTTCTGCCTGCAGTTGGTTGG	0.567																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(175-177)Cag>Aag		taste receptor, type 2, member 41							127.0	127.0	127.0					7																	143175140		2066	4205	6271	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175140C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.175C>A	7.37:g.143175140C>A	ENSP00000386201:p.Gln59Lys					EPHA1-AS1_ENST00000429289.1_RNA	p.Q59K	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	175	+	Melanoma(164;0.15)		59					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.175C>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213815	0.58452	.	.	ENSG00000221855	ENST00000408916	T	0.00864	5.6	5.76	5.76	0.90799	.	0.104492	0.37053	U	0.002265	T	0.07863	0.0197	M	0.89840	3.065	0.35017	D	0.757433	D	0.71674	0.998	D	0.70227	0.968	T	0.02081	-1.1217	10	0.59425	D	0.04	.	17.4632	0.87625	0.0:1.0:0.0:0.0	.	59	P59536	T2R41_HUMAN	K	59	ENSP00000386201:Q59K	ENSP00000386201:Q59K	Q	+	1	0	TAS2R41	142885262	0.911000	0.30947	1.000000	0.80357	0.064000	0.16182	1.241000	0.32743	2.733000	0.93635	0.655000	0.94253	CAG		0.567	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			76	125	1	0	1.36236e-49	1	1.6314e-49	76	125				
HIST1H4E	8367	broad.mit.edu	37	6	26205070	26205070	+	Silent	SNP	G	G	A	rs145407769	byFrequency	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:26205070G>A	ENST00000360441.4	+	1	213	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V66V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TGGAAAACGTGATTCGTGATG	0.567																																						ENST00000360441.4																			1	Substitution - coding silent(1)	p.V66V(1)	ovary(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(196-198)gtG>gtA		histone cluster 1, H4e							140.0	125.0	130.0					6																	26205070		2203	4300	6503	SO:0001819	synonymous_variant	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205070G>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.198G>A	6.37:g.26205070G>A							p.V66V	NM_003545.3	NP_003536.1	P62805	H4_HUMAN			1	213	+		all_hematologic(11;0.196)	66					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000360441.4	37	c.198G>A	CCDS4593.1																																																																																				0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		54	56	0	0	0	1	0	54	56				
GABRG1	2565	broad.mit.edu	37	4	46067594	46067594	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:46067594G>T	ENST00000295452.4	-	4	496	c.329C>A	c.(328-330)aCa>aAa	p.T110K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	110					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TATATCTATTGTATATTCCTA	0.274																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(328-330)aCa>aAa		gamma-aminobutyric acid (GABA) A receptor, gamma 1							23.0	24.0	24.0					4																	46067594		2187	4286	6473	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067594G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.329C>A	4.37:g.46067594G>T	ENSP00000295452:p.Thr110Lys						p.T110K	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	496	-			110					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.329C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235038	0.79800	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.80738	-1.41	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.055575	0.64402	D	0.000001	D	0.89581	0.6756	M	0.80982	2.52	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	D	0.90772	0.4673	10	0.66056	D	0.02	.	17.8218	0.88652	0.0:0.0:1.0:0.0	.	110	Q8N1C3	GBRG1_HUMAN	K	110	ENSP00000295452:T110K	ENSP00000295452:T110K	T	-	2	0	GABRG1	45762351	1.000000	0.71417	0.997000	0.53966	0.630000	0.37929	6.604000	0.74150	2.513000	0.84729	0.508000	0.49915	ACA		0.274	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		12	7	1	0	0.00010058	1	0.000103485	12	7				
VEPH1	79674	broad.mit.edu	37	3	157178057	157178057	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:157178057T>A	ENST00000362010.2	-	4	749	c.442A>T	c.(442-444)Atg>Ttg	p.M148L	VEPH1_ENST00000468233.1_Missense_Mutation_p.M148L|VEPH1_ENST00000537559.1_Missense_Mutation_p.M148L|VEPH1_ENST00000494677.1_Missense_Mutation_p.M148L|VEPH1_ENST00000543418.1_Missense_Mutation_p.M148L|VEPH1_ENST00000392833.2_Missense_Mutation_p.M148L|VEPH1_ENST00000392832.2_Missense_Mutation_p.M148L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	148						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGTTAGACATATTCCTGCAC	0.463																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(442-444)Atg>Ttg		ventricular zone expressed PH domain-containing 1							142.0	133.0	136.0					3																	157178057		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157178057T>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.442A>T	3.37:g.157178057T>A	ENSP00000354919:p.Met148Leu					VEPH1_ENST00000392833.2_Missense_Mutation_p.M148L|VEPH1_ENST00000543418.1_Missense_Mutation_p.M148L|VEPH1_ENST00000494677.1_Missense_Mutation_p.M148L|VEPH1_ENST00000468233.1_Missense_Mutation_p.M148L|VEPH1_ENST00000537559.1_Missense_Mutation_p.M148L|VEPH1_ENST00000392832.2_Missense_Mutation_p.M148L	p.M148L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		4	749	-			148					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.442A>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	4.815	0.151542	0.09185	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	T;T;T;T;T;T;T;T;T	0.42900	1.31;1.31;1.31;1.31;0.96;1.57;1.57;1.57;1.57	4.85	0.876	0.19138	.	0.082157	0.85682	N	0.000000	T	0.25269	0.0614	L	0.31752	0.955	0.53688	D	0.999972	B;B;B	0.24823	0.001;0.112;0.001	B;B;B	0.27380	0.002;0.079;0.0	T	0.03957	-1.0989	10	0.35671	T	0.21	-10.6752	3.9194	0.09237	0.1281:0.0712:0.1338:0.6669	.	148;148;148	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	L	148;148;148;148;36;148;148;148;148	ENSP00000376578:M148L;ENSP00000354919:M148L;ENSP00000446258:M148L;ENSP00000376577:M148L;ENSP00000418963:M36L;ENSP00000419193:M148L;ENSP00000443868:M148L;ENSP00000417268:M148L;ENSP00000420097:M148L	ENSP00000354919:M148L	M	-	1	0	VEPH1	158660751	1.000000	0.71417	0.382000	0.26119	0.910000	0.53928	4.733000	0.62036	-0.029000	0.13827	0.533000	0.62120	ATG		0.463	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		44	148	0	0	0	1	0	44	148				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	52	0	0	0	1	0	21	52				
CPSF1	29894	broad.mit.edu	37	8	145622721	145622721	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:145622721C>T	ENST00000349769.3	-	22	2460	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	789					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.R789L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCATTCTCCCGCACCAGCAG	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			1	Substitution - Missense(1)	p.R789L(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2365-2367)cGg>cAg		cleavage and polyadenylation specific factor 1, 160kDa							28.0	32.0	31.0					8																	145622721		2203	4295	6498	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622721C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2366G>A	8.37:g.145622721C>T	ENSP00000339353:p.Arg789Gln						p.R789Q	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		22	2460	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		789					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.2366G>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319619	0.95682	.	.	ENSG00000071894	ENST00000349769	T	0.49432	0.78	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.68138	-0.5488	10	0.51188	T	0.08	-34.8036	15.9944	0.80230	0.0:1.0:0.0:0.0	.	789	Q10570	CPSF1_HUMAN	Q	789	ENSP00000339353:R789Q	ENSP00000339353:R789Q	R	-	2	0	CPSF1	145593529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.965000	0.76067	2.387000	0.81309	0.491000	0.48974	CGG		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		15	19	0	0	0	1	0	15	19				
TRIB2	28951	broad.mit.edu	37	2	12880597	12880597	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:12880597G>T	ENST00000155926.4	+	3	2128	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	TRIB2_ENST00000381465.2_Missense_Mutation_p.V101L	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCAGCCGACGTGTGGAGCCT	0.587																																						ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(709-711)Gtg>Ttg		tribbles pseudokinase 2							84.0	65.0	71.0					2																	12880597		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880597G>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.709G>T	2.37:g.12880597G>T	ENSP00000155926:p.Val237Leu					TRIB2_ENST00000381465.2_Missense_Mutation_p.V101L	p.V237L	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			3	2128	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		237			Protein kinase.			Missense_Mutation	SNP	ENST00000155926.4	37	c.709G>T	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653859	0.88056	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.75938	-0.98;-0.98	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	L	0.48935	1.535	0.80722	D	1	D	0.59767	0.986	P	0.60789	0.879	T	0.81252	-0.1017	10	0.54805	T	0.06	-16.5546	19.354	0.94404	0.0:0.0:1.0:0.0	.	237	Q92519	TRIB2_HUMAN	L	237;101	ENSP00000155926:V237L;ENSP00000370874:V101L	ENSP00000155926:V237L	V	+	1	0	TRIB2	12798048	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GTG		0.587	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		32	53	1	0	1.74807e-11	1	1.93852e-11	32	53				
DSEL	92126	broad.mit.edu	37	18	65178376	65178376	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:65178376A>C	ENST00000310045.7	-	2	4973	c.3500T>G	c.(3499-3501)aTa>aGa	p.I1167R	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1157					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGCAAACAATATTTGGTTTAA	0.363																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3499-3501)aTa>aGa		dermatan sulfate epimerase-like							77.0	75.0	76.0					18																	65178376		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178376A>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3500T>G	18.37:g.65178376A>C	ENSP00000310565:p.Ile1167Arg					CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	p.I1167R	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4973	-		Esophageal squamous(42;0.129)	1157					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3500T>G	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217717	0.58560	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25414	1.8	4.7	4.7	0.59300	Sulfotransferase domain (1);	0.160472	0.40064	U	0.001181	T	0.38532	0.1044	L	0.54323	1.7	0.58432	D	0.999999	P	0.37101	0.582	P	0.48738	0.588	T	0.31447	-0.9943	10	0.87932	D	0	-10.0126	14.4508	0.67385	1.0:0.0:0.0:0.0	.	1157	Q8IZU8	DSEL_HUMAN	R	1167;1157	ENSP00000310565:I1167R	ENSP00000310565:I1167R	I	-	2	0	DSEL	63329356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.163000	0.94750	1.872000	0.54250	0.460000	0.39030	ATA		0.363	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		24	70	0	0	0	1	0	24	70				
FAM189A2	9413	broad.mit.edu	37	9	72003134	72003134	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:72003134C>T	ENST00000257515.8	+	10	1337	c.917C>T	c.(916-918)gCa>gTa	p.A306V	FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A306V|FAM189A2_ENST00000303068.7_Missense_Mutation_p.A141V|FAM189A2_ENST00000377216.3_Missense_Mutation_p.A93V	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	306						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GATCTGGCTGCAGTGACTCTG	0.532																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(916-918)gCa>gTa		family with sequence similarity 189, member A2							76.0	75.0	75.0					9																	72003134		2203	4300	6503	SO:0001583	missense	9413					integral to membrane		g.chr9:72003134C>T	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.917C>T	9.37:g.72003134C>T	ENSP00000257515:p.Ala306Val					FAM189A2_ENST00000303068.7_Missense_Mutation_p.A141V|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A306V|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000377216.3_Missense_Mutation_p.A93V	p.A306V	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			10	1337	+			306					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	ENST00000257515.8	37	c.917C>T	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704963	0.48412	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000303068;ENST00000377225;ENST00000377216	T;T;T	0.31510	2.51;2.51;1.49	5.64	4.74	0.60224	.	0.567622	0.18275	N	0.146202	T	0.28101	0.0693	L	0.44542	1.39	0.09310	N	1	B	0.28713	0.22	B	0.25140	0.058	T	0.13308	-1.0514	10	0.42905	T	0.14	-4.12	14.4096	0.67106	0.0:0.9293:0.0:0.0707	.	306	Q15884	F1892_HUMAN	V	306;306;141;305;93	ENSP00000395675:A306V;ENSP00000257515:A306V;ENSP00000304435:A141V	ENSP00000257515:A306V	A	+	2	0	FAM189A2	71192954	0.013000	0.17824	0.045000	0.18777	0.989000	0.77384	2.607000	0.46300	1.382000	0.46385	0.650000	0.86243	GCA		0.532	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		17	35	0	0	0	1	0	17	35				
SNTG2	54221	broad.mit.edu	37	2	1271319	1271319	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:1271319G>A	ENST00000308624.5	+	14	1389	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	SNTG2_ENST00000407292.1_Silent_p.T293T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	420	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAAGAGCCACGTTCATGGAAG	0.527																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1258-1260)acG>acA		syntrophin, gamma 2							37.0	37.0	37.0					2																	1271319		1967	4149	6116	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271319G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1260G>A	2.37:g.1271319G>A						SNTG2_ENST00000407292.1_Silent_p.T293T	p.T420T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	14	1389	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	420			PH.		Q05AH5	Silent	SNP	ENST00000308624.5	37	c.1260G>A	CCDS46220.1																																																																																				0.527	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		11	41	0	0	0	1	0	11	41				
SNW1	22938	broad.mit.edu	37	14	78205149	78205149	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:78205149C>A	ENST00000261531.7	-	5	567	c.505G>T	c.(505-507)Gac>Tac	p.D169Y	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.D169Y|SNW1_ENST00000554775.1_Missense_Mutation_p.D7Y	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	169					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCCAATTTGTCAGCTGCTCGA	0.423																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(505-507)Gac>Tac		SNW domain containing 1							75.0	75.0	75.0					14																	78205149		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78205149C>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.505G>T	14.37:g.78205149C>A	ENSP00000261531:p.Asp169Tyr					SNW1_ENST00000555761.1_Missense_Mutation_p.D169Y|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.D7Y	p.D169Y	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	5	567	-			169					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.505G>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007270	0.93287	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761;ENST00000416259	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	L	0.61218	1.895	0.80722	D	1	D;P	0.64830	0.994;0.94	D;P	0.68192	0.956;0.564	T	0.78453	-0.2198	9	0.72032	D	0.01	.	20.0796	0.97766	0.0:1.0:0.0:0.0	.	169;169	G3V3A4;Q13573	.;SNW1_HUMAN	Y	169;7;169;169	.	ENSP00000261531:D169Y	D	-	1	0	SNW1	77274902	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.445000	0.80570	2.758000	0.94735	0.460000	0.39030	GAC		0.423	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		12	130	1	0	9.31168e-06	1	9.829e-06	12	130				
PLXNA4	91584	broad.mit.edu	37	7	132193289	132193289	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:132193289A>G	ENST00000359827.3	-	2	1126	c.164T>C	c.(163-165)gTg>gCg	p.V55A	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V55A|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V55A|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V55A			Q9HCM2	PLXA4_HUMAN	plexin A4	55	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCATCCACCACCAGGTGATT	0.587																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(163-165)gTg>gCg		plexin A4							51.0	55.0	54.0					7																	132193289		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193289A>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.164T>C	7.37:g.132193289A>G	ENSP00000352882:p.Val55Ala					PLXNA4_ENST00000378539.5_Missense_Mutation_p.V55A|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V55A|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V55A	p.V55A			Q9HCM2	PLXA4_HUMAN			2	1126	-			55			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.164T>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	2.914	-0.224644	0.06061	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.094614	0.41823	U	0.000812	T	0.03220	0.0094	N	0.11651	0.15	0.42214	D	0.991829	B;B;B	0.14805	0.003;0.011;0.001	B;B;B	0.21546	0.008;0.035;0.009	T	0.34229	-0.9837	10	0.06365	T	0.9	.	15.6524	0.77108	1.0:0.0:0.0:0.0	.	55;55;55	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	A	55	ENSP00000323194:V55A;ENSP00000352882:V55A;ENSP00000392772:V55A;ENSP00000367800:V55A	ENSP00000323194:V55A	V	-	2	0	PLXNA4	131843829	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	7.473000	0.81007	2.106000	0.64143	0.460000	0.39030	GTG		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		12	122	0	0	0	1	0	12	122				
FAM46D	169966	broad.mit.edu	37	X	79698545	79698545	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:79698545T>A	ENST00000308293.5	+	3	746	c.507T>A	c.(505-507)ttT>ttA	p.F169L	FAM46D_ENST00000538312.1_Missense_Mutation_p.F169L	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	169										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GACGGCAGTTTGAATTTAGTG	0.378																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(505-507)ttT>ttA		family with sequence similarity 46, member D							76.0	74.0	75.0					X																	79698545		2203	4299	6502	SO:0001583	missense	169966							g.chrX:79698545T>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.507T>A	X.37:g.79698545T>A	ENSP00000308575:p.Phe169Leu					FAM46D_ENST00000308293.5_Missense_Mutation_p.F169L	p.F169L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	841	+			169					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.507T>A	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.924020	0.73213	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.27104	1.69;1.69	4.8	3.64	0.41730	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.55554	-0.8123	10	0.87932	D	0	-14.881	8.5092	0.33206	0.0:0.0938:0.0:0.9062	.	169	Q8NEK8	FA46D_HUMAN	L	169	ENSP00000443410:F169L;ENSP00000308575:F169L	ENSP00000308575:F169L	F	+	3	2	FAM46D	79585201	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.720000	0.38022	0.682000	0.31407	0.481000	0.45027	TTT		0.378	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		50	16	0	0	0	1	0	50	16				
ADAM8	101	broad.mit.edu	37	10	135086790	135086790	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:135086790G>A	ENST00000445355.3	-	6	591	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_Missense_Mutation_p.R142W|ADAM8_ENST00000415217.3_Missense_Mutation_p.R181W	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	181					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCTGCCGTCCGGGGTCCCAGG	0.711																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(541-543)Cgg>Tgg		ADAM metallopeptidase domain 8							7.0	11.0	10.0					10																	135086790		2129	4230	6359	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135086790G>A	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.541C>T	10.37:g.135086790G>A	ENSP00000453302:p.Arg181Trp					ADAM8_ENST00000485491.2_Missense_Mutation_p.R142W|ADAM8_ENST00000415217.3_Missense_Mutation_p.R181W	p.R181W	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	6	591	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	142					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.541C>T	CCDS31319.2																																																																																				0.711	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		8	6	0	0	0	1	0	8	6				
BCL11A	53335	broad.mit.edu	37	2	60695932	60695932	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:60695932C>G	ENST00000335712.6	-	3	649	c.422G>C	c.(421-423)cGt>cCt	p.R141P	BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.R141P|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.R141P|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	141	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ATGTGCAGAACGAGGGGAGGA	0.473			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(421-423)cGt>cCt		B-cell CLL/lymphoma 11A (zinc finger protein)							65.0	65.0	65.0					2																	60695932		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60695932C>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.422G>C	2.37:g.60695932C>G	ENSP00000338774:p.Arg141Pro					BCL11A_ENST00000356842.4_Missense_Mutation_p.R141P|BCL11A_ENST00000359629.5_Missense_Mutation_p.R141P|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Intron	p.R141P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	649	-			141			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.422G>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860395	0.32884	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000335712	T;T	0.08896	3.04;3.33	5.21	5.21	0.72293	.	0.547984	0.16709	N	0.202790	T	0.08626	0.0214	N	0.08118	0	0.80722	D	1	B;P;B	0.47841	0.0;0.901;0.0	B;P;B	0.50970	0.001;0.655;0.0	T	0.47195	-0.9136	10	0.32370	T	0.25	-1.6008	14.1117	0.65126	0.0:1.0:0.0:0.0	.	141;141;141	Q9H165;Q9H165-3;D9YZV9	BC11A_HUMAN;.;.	P	141;141;177;141	ENSP00000349300:R141P;ENSP00000338774:R141P	ENSP00000338774:R141P	R	-	2	0	BCL11A	60549436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.312000	0.43726	2.710000	0.92621	0.591000	0.81541	CGT		0.473	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		10	65	0	0	0	1	0	10	65				
IGSF11	152404	broad.mit.edu	37	3	118623574	118623574	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:118623574C>T	ENST00000393775.2	-	6	1080	c.775G>A	c.(775-777)Gca>Aca	p.A259T	IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000425327.2_Missense_Mutation_p.A258T|IGSF11_ENST00000354673.2_Missense_Mutation_p.A258T|IGSF11_ENST00000489689.1_Missense_Mutation_p.A235T|IGSF11_ENST00000441144.2_Missense_Mutation_p.A234T	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	259					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAATTAGTGCAATGCAAAAA	0.338																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(772-774)Gca>Aca		immunoglobulin superfamily, member 11							113.0	128.0	123.0					3																	118623574		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623574C>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.775G>A	3.37:g.118623574C>T	ENSP00000377370:p.Ala259Thr					IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000441144.2_Missense_Mutation_p.A234T|IGSF11_ENST00000393775.2_Missense_Mutation_p.A259T|IGSF11_ENST00000489689.1_Missense_Mutation_p.A235T|IGSF11_ENST00000425327.2_Missense_Mutation_p.A258T	p.A258T	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			8	1152	-			259					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.772G>A	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410446	0.42715	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144	T;T;D;T;D	0.84589	-1.13;-1.34;-1.87;-1.13;-1.85	5.28	4.34	0.51931	.	0.350346	0.29822	N	0.011118	T	0.76248	0.3961	L	0.27053	0.805	0.31515	N	0.663151	B;B;B;B	0.28933	0.228;0.137;0.146;0.146	B;B;B;B	0.28011	0.085;0.085;0.057;0.057	T	0.76323	-0.3001	10	0.37606	T	0.19	.	13.4038	0.60898	0.0:0.9138:0.0:0.0862	.	234;258;235;259	Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;IGS11_HUMAN	T	258;259;235;258;234	ENSP00000406092:A258T;ENSP00000377370:A259T;ENSP00000420486:A235T;ENSP00000346700:A258T;ENSP00000401240:A234T	ENSP00000346700:A258T	A	-	1	0	IGSF11	120106264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.810000	0.47979	2.765000	0.95021	0.655000	0.94253	GCA		0.338	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			6	378	0	0	0	1	0	6	378				
PLB1	151056	broad.mit.edu	37	2	28766125	28766125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:28766125G>A	ENST00000327757.5	+	14	970	c.926G>A	c.(925-927)tGg>tAg	p.W309*	PLB1_ENST00000422425.2_Nonsense_Mutation_p.W320*	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	309	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGCATCTCTGGAATAGGATG	0.617																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(958-960)tGg>tAg		phospholipase B1							37.0	37.0	37.0					2																	28766125		2203	4300	6503	SO:0001587	stop_gained	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28766125G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.926G>A	2.37:g.28766125G>A	ENSP00000330442:p.Trp309*					PLB1_ENST00000327757.5_Nonsense_Mutation_p.W309*	p.W320*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			14	1003	+	Acute lymphoblastic leukemia(172;0.155)		309			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Nonsense_Mutation	SNP	ENST00000327757.5	37	c.959G>A	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.871377|5.871377	0.97049|0.97049	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.152345	.|0.46758	.|D	.|0.000275	T|.	0.41259|.	0.1151|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27839|.	-1.0062|.	4|.	.|0.02654	.|T	.|1	-12.2731|-12.2731	14.2174|14.2174	0.65802|0.65802	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	319|309;320	.|.	.|ENSP00000330442:W309X	G|W	+|+	1|2	0|0	PLB1|PLB1	28619629|28619629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	4.133000|4.133000	0.57983|0.57983	2.619000|2.619000	0.88677|0.88677	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.617	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			11	11	0	0	0	1	0	11	11				
ZNF91	7644	broad.mit.edu	37	19	23543308	23543308	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:23543308G>T	ENST00000300619.7	-	4	2678	c.2473C>A	c.(2473-2475)Ccc>Acc	p.P825T	ZNF91_ENST00000397082.2_Missense_Mutation_p.P793T|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	825					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCCA	0.403																																						ENST00000300619.7																			0											c.(2473-2475)Ccc>Acc		zinc finger protein 91							61.0	64.0	63.0					19																	23543308		2163	4274	6437	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543308G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2473C>A	19.37:g.23543308G>T	ENSP00000300619:p.Pro825Thr					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793T	p.P825T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2678	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	825					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2473C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837399	0.32513	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16897	2.31;2.31	1.53	0.359	0.16088	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32133	0.0819	M	0.72353	2.195	0.31791	N	0.629654	D;D	0.71674	0.995;0.998	D;D	0.72075	0.952;0.976	T	0.34004	-0.9846	9	0.54805	T	0.06	.	3.5686	0.07909	0.1709:0.0:0.5921:0.237	.	793;825	Q05481-2;Q05481	.;ZNF91_HUMAN	T	825;793	ENSP00000300619:P825T;ENSP00000380272:P793T	ENSP00000300619:P825T	P	-	1	0	ZNF91	23335148	0.807000	0.29009	0.041000	0.18516	0.097000	0.18754	1.553000	0.36255	-0.037000	0.13646	0.205000	0.17691	CCC		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		17	71	1	0	6.94344e-10	1	7.67008e-10	17	71				
HIST1H2AE	3012	broad.mit.edu	37	6	26217505	26217505	+	Silent	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:26217505G>C	ENST00000303910.2	+	1	341	c.303G>C	c.(301-303)gtG>gtC	p.V101V	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	101						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAGGTCGCGTGACCATCGCGC	0.577																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(301-303)gtG>gtC		histone cluster 1, H2ae							77.0	74.0	75.0					6																	26217505		2203	4300	6503	SO:0001819	synonymous_variant	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217505G>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.303G>C	6.37:g.26217505G>C							p.V101V	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	341	+		all_hematologic(11;0.196)	101					P28001|Q76P63	Silent	SNP	ENST00000303910.2	37	c.303G>C	CCDS4595.1																																																																																				0.577	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		39	48	0	0	0	1	0	39	48				
DPRX	503834	broad.mit.edu	37	19	54135361	54135361	+	Start_Codon_SNP	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54135361A>C	ENST00000376650.1	+	1	52	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RN7SL317P_ENST00000497408.2_RNA	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GGATTAGAAGATGCCAGGCTC	0.502																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(1-3)Atg>Ctg		divergent-paired related homeobox							131.0	129.0	130.0					19																	54135361		2203	4300	6503	SO:0001582	initiator_codon_variant	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54135361A>C		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.1A>C	19.37:g.54135361A>C	ENSP00000365838:p.Met1Leu						p.M1L	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	1	52	+	Ovarian(34;0.19)		1						Translation_Start_Site	SNP	ENST00000376650.1	37	c.1A>C	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	A	8.497	0.863456	0.17250	.	.	ENSG00000204595	ENST00000376650	D	0.93859	-3.3	2.02	0.922	0.19408	.	.	.	.	.	D	0.86091	0.5850	.	.	.	0.21697	N	0.999589	B	0.02656	0.0	B	0.01281	0.0	T	0.73285	-0.4031	8	0.34782	T	0.22	.	4.8668	0.13613	0.6757:0.3243:0.0:0.0	.	1	A6NFQ7	DPRX_HUMAN	L	1	ENSP00000365838:M1L	ENSP00000365838:M1L	M	+	1	0	DPRX	58827173	0.022000	0.18835	0.002000	0.10522	0.011000	0.07611	1.652000	0.37313	0.213000	0.20722	0.477000	0.44152	ATG		0.502	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728	Missense_Mutation	69	118	0	0	0	1	0	69	118				
KRT16P3	644945	broad.mit.edu	37	17	20405939	20405939	+	RNA	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:20405939G>A	ENST00000580113.1	-	0	924									keratin 16 pseudogene 3																		TCCAGGCCCTGGAACACCCTC	0.582																																						ENST00000580113.1																			0																																																			644945							g.chr17:20405939G>A	BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20405939G>A														0	924	-									RNA	SNP	ENST00000580113.1	37																																																																																						0.582	KRT16P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443764.1	NR_029393		9	21	0	0	0	1	0	9	21				
RNFT1	51136	broad.mit.edu	37	17	58040503	58040503	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:58040503A>G	ENST00000305783.8	-	2	254	c.199T>C	c.(199-201)Ttg>Ctg	p.L67L	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Silent_p.L30L|RP11-178C3.2_ENST00000586209.1_lincRNA	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	67						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCTCCTGTCAATCTTGTGTGG	0.468																																						ENST00000305783.8																			0				large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(199-201)Ttg>Ctg		ring finger protein, transmembrane 1							121.0	102.0	108.0					17																	58040503		2203	4300	6503	SO:0001819	synonymous_variant	51136					integral to membrane	zinc ion binding	g.chr17:58040503A>G	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.199T>C	17.37:g.58040503A>G						RNFT1_ENST00000442346.2_Silent_p.L30L|RP11-178C3.1_ENST00000591035.1_Intron	p.L67L	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		2	254	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		67					Q8N7D0|Q96IZ9|Q9Y686	Silent	SNP	ENST00000305783.8	37	c.199T>C	CCDS11622.2																																																																																				0.468	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		39	84	0	0	0	1	0	39	84				
GRM5	2915	broad.mit.edu	37	11	88386464	88386464	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:88386464T>C	ENST00000305447.4	-	3	1168	c.1019A>G	c.(1018-1020)tAt>tGt	p.Y340C	GRM5_ENST00000418177.2_Missense_Mutation_p.Y340C|GRM5_ENST00000305432.5_Missense_Mutation_p.Y340C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y340C|GRM5_ENST00000393297.1_Missense_Mutation_p.Y340C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	340					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTTCAGATAATAATCATCAAA	0.478																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1018-1020)tAt>tGt		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						98.0	99.0	99.0					11																	88386464		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386464T>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1019A>G	11.37:g.88386464T>C	ENSP00000306138:p.Tyr340Cys					GRM5_ENST00000305432.5_Missense_Mutation_p.Y340C|GRM5_ENST00000305447.4_Missense_Mutation_p.Y340C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y340C|GRM5_ENST00000393297.1_Missense_Mutation_p.Y340C	p.Y340C			P41594	GRM5_HUMAN			4	1386	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	340					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1019A>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409213	0.83340	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96075	0.9049	9	.	.	.	.	16.2898	0.82742	0.0:0.0:0.0:1.0	.	340;340	P41594-2;P41594	.;GRM5_HUMAN	C	340	ENSP00000402912:Y340C;ENSP00000405690:Y340C;ENSP00000305905:Y340C;ENSP00000306138:Y340C;ENSP00000376975:Y340C	.	Y	-	2	0	GRM5	88026112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.250000	0.74265	0.482000	0.46254	TAT		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		5	51	0	0	0	1	0	5	51				
ZNF254	9534	broad.mit.edu	37	19	24288852	24288852	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:24288852A>T	ENST00000357002.4	+	2	256	c.141A>T	c.(139-141)agA>agT	p.R47S	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.R47S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAACTACAGAAACCTGGCCT	0.368																																						ENST00000357002.4																			0											c.(139-141)agA>agT		zinc finger protein 254							87.0	97.0	94.0					19																	24288852		2203	4298	6501	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24288852A>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.141A>T	19.37:g.24288852A>T	ENSP00000349494:p.Arg47Ser					ZNF254_ENST00000339642.6_Missense_Mutation_p.R47S|ZNF254_ENST00000342944.6_Intron	p.R47S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			2	256	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	47			KRAB.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.141A>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287201	0.59867	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.01629	4.72;4.72	0.225	0.225	0.15325	Krueppel-associated box (4);	.	.	.	.	T	0.05547	0.0146	L	0.49778	1.585	0.58432	D	0.999991	D	0.69078	0.997	D	0.69479	0.964	T	0.35699	-0.9778	8	0.54805	T	0.06	.	.	.	.	.	47	O75437	ZN254_HUMAN	S	47	ENSP00000349494:R47S;ENSP00000341573:R47S	ENSP00000341573:R47S	R	+	3	2	ZNF254	24080692	0.670000	0.27512	0.872000	0.34217	0.874000	0.50279	0.113000	0.15499	0.257000	0.21650	0.254000	0.18369	AGA		0.368	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		43	189	0	0	0	1	0	43	189				
OR8H2	390151	broad.mit.edu	37	11	55872781	55872781	+	Missense_Mutation	SNP	C	C	A	rs137892845		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:55872781C>A	ENST00000313503.1	+	1	263	c.263C>A	c.(262-264)aCt>aAt	p.T88N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T88I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AACTTACTGACTTCCAACTAT	0.428										HNSCC(53;0.14)																												ENST00000313503.1																			1	Substitution - Missense(1)	p.T88I(1)	skin(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(262-264)aCt>aAt		olfactory receptor, family 8, subfamily H, member 2							300.0	304.0	303.0					11																	55872781		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872781C>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.263C>A	11.37:g.55872781C>A	ENSP00000323982:p.Thr88Asn	HNSCC(53;0.14)					p.T88N	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	263	+	Esophageal squamous(21;0.00693)		88					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.263C>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	6.145	0.394982	0.11638	.	.	ENSG00000181767	ENST00000313503	T	0.01347	4.99	3.58	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.115721	0.39834	N	0.001257	T	0.02012	0.0063	M	0.70903	2.155	0.09310	N	1	B	0.31859	0.343	B	0.29942	0.109	T	0.37174	-0.9717	10	0.38643	T	0.18	.	6.4721	0.22013	0.1823:0.7201:0.0:0.0976	.	88	Q8N162	OR8H2_HUMAN	N	88	ENSP00000323982:T88N	ENSP00000323982:T88N	T	+	2	0	OR8H2	55629357	0.000000	0.05858	0.395000	0.26283	0.200000	0.23975	-1.234000	0.02931	1.952000	0.56665	0.440000	0.28878	ACT		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		35	301	1	0	2.28855e-06	1	2.45201e-06	35	301				
PSG1	5669	broad.mit.edu	37	19	43376172	43376172	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:43376172G>T	ENST00000436291.2	-	3	572	c.456C>A	c.(454-456)tcC>tcA	p.S152S	PSG1_ENST00000312439.6_Silent_p.S152S|PSG1_ENST00000244296.2_Silent_p.S152S|PSG1_ENST00000595356.1_Silent_p.S152S|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	152	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGTTGCTGCTGGAGATGGAGG	0.507																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(454-456)tcC>tcA		pregnancy specific beta-1-glycoprotein 1							162.0	154.0	157.0					19																	43376172		2201	4299	6500	SO:0001819	synonymous_variant	5669							g.chr19:43376172G>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.456C>A	19.37:g.43376172G>T						PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Silent_p.S152S|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Silent_p.S152S|PSG1_ENST00000595356.1_Silent_p.S152S	p.S152S	NM_006905.2	NP_008836.2					3	593	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.456C>A	CCDS54275.1																																																																																				0.507	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			50	303	1	0	9.52127e-25	1	1.11212e-24	50	303				
ZNF148	7707	broad.mit.edu	37	3	124998000	124998000	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:124998000T>C	ENST00000360647.4	-	6	1036	c.551A>G	c.(550-552)tAt>tGt	p.Y184C	ZNF148_ENST00000485866.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Missense_Mutation_p.I8V|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000492394.1_Missense_Mutation_p.Y184C	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	184					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTGTAAGTGATAGTTCGTTCT	0.358																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(550-552)tAt>tGt		zinc finger protein 148							155.0	160.0	158.0					3																	124998000		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124998000T>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.551A>G	3.37:g.124998000T>C	ENSP00000353863:p.Tyr184Cys					ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Missense_Mutation_p.I8V|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000485866.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000484491.1_Missense_Mutation_p.Y184C	p.Y184C	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			6	1036	-			184					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.551A>G	CCDS3031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.095543|4.095543	0.76870|0.76870	.|.	.|.	ENSG00000221955|ENSG00000163848	ENST00000423114|ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	D|T;T;T;T	0.87650|0.07908	-2.28|3.15;3.15;3.15;3.15	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26268|0.26268	0.0641|0.0641	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|D	0.38597|0.76494	0.639|0.999	B|D	0.36959|0.79784	0.237|0.993	T|T	0.00756|0.00756	-1.1579|-1.1579	9|10	0.15066|0.72032	T|D	0.55|0.01	-15.892|-15.892	14.9125|14.9125	0.70770|0.70770	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	8|184	A0AV02-2|Q9UQR1	.|ZN148_HUMAN	V|C	8|184	ENSP00000404243:I8V|ENSP00000353863:Y184C;ENSP00000420335:Y184C;ENSP00000419322:Y184C;ENSP00000420448:Y184C	ENSP00000404243:I8V|ENSP00000353863:Y184C	I|Y	-|-	1|2	0|0	SLC12A8|ZNF148	126480690|126480690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.525000|7.525000	0.81892|0.81892	2.114000|2.114000	0.64651|0.64651	0.477000|0.477000	0.44152|0.44152	ATC|TAT		0.358	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		82	139	0	0	0	1	0	82	139				
ZNF354C	30832	broad.mit.edu	37	5	178505879	178505879	+	Missense_Mutation	SNP	C	C	T	rs374746629		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:178505879C>T	ENST00000315475.6	+	5	752	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATGATAGATTCGCATGAGAAA	0.393																																						ENST00000315475.6																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(445-447)tCg>tTg		zinc finger protein 354C		C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	95.0	100.0	98.0		446	0.9	0.0	5		98	0,8600		0,0,4300	no	missense	ZNF354C	NM_014594.1	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	149/555	178505879	2,13004	2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178505879C>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.446C>T	5.37:g.178505879C>T	ENSP00000324064:p.Ser149Leu						p.S149L	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	752	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	149					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.446C>T	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	7.826	0.718723	0.15372	4.54E-4	0.0	ENSG00000177932	ENST00000315475	T	0.05319	3.46	3.74	0.864	0.19068	.	.	.	.	.	T	0.03871	0.0109	N	0.16567	0.415	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.41431	-0.9509	9	0.42905	T	0.14	-0.0514	5.1502	0.15005	0.0:0.6102:0.1783:0.2116	.	149	Q86Y25	Z354C_HUMAN	L	149	ENSP00000324064:S149L	ENSP00000324064:S149L	S	+	2	0	ZNF354C	178438485	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.501000	0.35693	0.346000	0.23899	0.591000	0.81541	TCG		0.393	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			26	88	0	0	0	1	0	26	88				
CSRNP1	64651	broad.mit.edu	37	3	39186697	39186697	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:39186697A>G	ENST00000273153.5	-	3	433	c.256T>C	c.(256-258)Ttt>Ctt	p.F86L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.F86L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	86					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						ATCCCATCAAAGGCTACACGG	0.607																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(256-258)Ttt>Ctt		cysteine-serine-rich nuclear protein 1							65.0	60.0	62.0					3																	39186697		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39186697A>G	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.256T>C	3.37:g.39186697A>G	ENSP00000273153:p.Phe86Leu					CSRNP1_ENST00000514182.1_Missense_Mutation_p.F86L	p.F86L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			3	433	-			86					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.256T>C	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	A	34	5.345433	0.95807	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.42513	0.97;0.97	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77135	-0.2699	10	0.87932	D	0	-22.9831	15.0409	0.71791	1.0:0.0:0.0:0.0	.	86	Q96S65	CSRN1_HUMAN	L	86	ENSP00000273153:F86L;ENSP00000422532:F86L	ENSP00000273153:F86L	F	-	1	0	CSRNP1	39161701	1.000000	0.71417	0.734000	0.30879	0.977000	0.68977	9.242000	0.95408	2.017000	0.59298	0.379000	0.24179	TTT		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		18	37	0	0	0	1	0	18	37				
CNTN1	1272	broad.mit.edu	37	12	41330595	41330595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:41330595G>A	ENST00000551295.2	+	10	1115	c.998G>A	c.(997-999)tGg>tAg	p.W333*	CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W322*|CNTN1_ENST00000547702.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000360099.3_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.W333*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	333	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCCCTGAGTGGGTAGAACAC	0.413																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(997-999)tGg>tAg		contactin 1							161.0	139.0	146.0					12																	41330595		2203	4300	6503	SO:0001587	stop_gained	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41330595G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.998G>A	12.37:g.41330595G>A	ENSP00000447006:p.Trp333*					CNTN1_ENST00000547702.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W322*|CNTN1_ENST00000360099.3_Nonsense_Mutation_p.W333*	p.W333*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			10	1115	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	333			Ig-like C2-type 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Nonsense_Mutation	SNP	ENST00000551295.2	37	c.998G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	37	6.610006	0.97705	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4988	0.95085	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;333;333;333;322	.	ENSP00000325660:W333X	W	+	2	0	CNTN1	39616862	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.230000	0.95299	2.681000	0.91329	0.650000	0.86243	TGG		0.413	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		17	95	0	0	0	1	0	17	95				
FANCM	57697	broad.mit.edu	37	14	45658390	45658390	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:45658390C>T	ENST00000267430.5	+	20	5250	c.5165C>T	c.(5164-5166)cCa>cTa	p.P1722L	FANCM_ENST00000542564.2_Missense_Mutation_p.P1696L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1722					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CGTTCTACTCCAAGAGTTAAT	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5164-5166)cCa>cTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							143.0	142.0	142.0					14																	45658390		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658390C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5165C>T	14.37:g.45658390C>T	ENSP00000267430:p.Pro1722Leu					FANCM_ENST00000542564.2_Missense_Mutation_p.P1696L	p.P1722L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			20	5250	+			1722					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5165C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879939	0.51801	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.75260	-0.92;-0.92;-0.92	5.28	3.34	0.38264	.	17.776400	0.00166	N	0.000000	T	0.72566	0.3476	M	0.61703	1.905	0.09310	N	1	B;B	0.25772	0.068;0.134	B;B	0.23852	0.022;0.049	T	0.56866	-0.7908	10	0.72032	D	0.01	.	4.5899	0.12301	0.176:0.6433:0.0:0.1807	.	1696;1722	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	L	1722;1696;1238	ENSP00000267430:P1722L;ENSP00000442493:P1696L;ENSP00000452033:P1238L	ENSP00000267430:P1722L	P	+	2	0	FANCM	44728140	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.591000	0.23969	1.373000	0.46208	0.650000	0.86243	CCA		0.413	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		53	194	0	0	0	1	0	53	194				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	338	0	0	0	1	0	6	338				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	54	0	0	0	1	0	3	54				
ITM2A	9452	broad.mit.edu	37	X	78618173	78618173	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:78618173G>C	ENST00000373298.2	-	4	600	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.L109V	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	153	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACAAGTCCAGGTAAGCAGTC	0.438																																						ENST00000434584.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(325-327)Ctg>Gtg		integral membrane protein 2A							75.0	68.0	70.0					X																	78618173		2203	4300	6503	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78618173G>C	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.457C>G	X.37:g.78618173G>C	ENSP00000362395:p.Leu153Val					ITM2A_ENST00000373298.2_Missense_Mutation_p.L153V|ITM2A_ENST00000469541.1_5'UTR	p.L109V	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN			3	661	-			153					B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.325C>G	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700359	0.48307	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.78924	-1.22;-1.22	4.62	2.2	0.27929	BRICHOS (2);	0.000000	0.64402	D	0.000004	T	0.79528	0.4461	L	0.42529	1.33	0.45515	D	0.99847	D;D	0.89917	0.997;1.0	D;D	0.87578	0.98;0.998	T	0.72603	-0.4243	10	0.24483	T	0.36	-20.0954	7.3208	0.26526	0.3455:0.0:0.6545:0.0	.	109;153	B4E062;O43736	.;ITM2A_HUMAN	V	153;109	ENSP00000362395:L153V;ENSP00000415533:L109V	ENSP00000362395:L153V	L	-	1	2	ITM2A	78504829	1.000000	0.71417	0.802000	0.32245	0.863000	0.49368	3.326000	0.52037	0.131000	0.18576	0.538000	0.68166	CTG		0.438	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		27	5	0	0	0	1	0	27	5				
ZBTB39	9880	broad.mit.edu	37	12	57397279	57397279	+	Missense_Mutation	SNP	G	G	C	rs548510754		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57397279G>C	ENST00000300101.2	-	2	1508	c.1423C>G	c.(1423-1425)Cta>Gta	p.L475V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTCAAGTTTAGATGGTCAAGG	0.562																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1423-1425)Cta>Gta		zinc finger and BTB domain containing 39							56.0	53.0	54.0					12																	57397279		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397279G>C	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1423C>G	12.37:g.57397279G>C	ENSP00000300101:p.Leu475Val						p.L475V	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1508	-			475					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1423C>G	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.336214	0.00224	.	.	ENSG00000166860	ENST00000300101	T	0.15372	2.43	5.7	-0.195	0.13236	.	0.633338	0.14971	N	0.287807	T	0.07324	0.0185	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	10	0.37606	T	0.19	-1.4289	3.4796	0.07597	0.1605:0.3649:0.3567:0.1179	.	475	O15060	ZBT39_HUMAN	V	475	ENSP00000300101:L475V	ENSP00000300101:L475V	L	-	1	2	ZBTB39	55683546	0.987000	0.35691	0.042000	0.18584	0.688000	0.40055	1.129000	0.31381	0.039000	0.15632	0.655000	0.94253	CTA		0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		9	53	0	0	0	1	0	9	53				
AHNAK	79026	broad.mit.edu	37	11	62285198	62285198	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:62285198G>C	ENST00000378024.4	-	5	16965	c.16691C>G	c.(16690-16692)cCa>cGa	p.P5564R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5564	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGATTTTTGGGCCCTTCAA	0.517																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16690-16692)cCa>cGa		AHNAK nucleoprotein							159.0	167.0	164.0					11																	62285198		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285198G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16691C>G	11.37:g.62285198G>C	ENSP00000367263:p.Pro5564Arg					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P5564R	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16965	-		Melanoma(852;0.155)	5564			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16691C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460636	0.26248	.	.	ENSG00000124942	ENST00000378024	T	0.03212	4.01	4.91	3.99	0.46301	.	0.000000	0.39834	U	0.001252	T	0.15262	0.0368	M	0.90252	3.1	0.42258	D	0.992	P	0.48640	0.913	P	0.52109	0.69	T	0.02868	-1.1100	10	0.42905	T	0.14	-3.9469	12.9895	0.58610	0.0801:0.0:0.9199:0.0	.	5564	Q09666	AHNK_HUMAN	R	5564	ENSP00000367263:P5564R	ENSP00000367263:P5564R	P	-	2	0	AHNAK	62041774	1.000000	0.71417	0.926000	0.36857	0.230000	0.25150	4.829000	0.62737	1.046000	0.40249	0.551000	0.68910	CCA		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	210	0	0	0	1	0	14	210				
ADAM19	8728	broad.mit.edu	37	5	156929861	156929861	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:156929861C>A	ENST00000517905.1	-	12	1302	c.1258G>T	c.(1258-1260)Ggg>Tgg	p.G420W	ADAM19_ENST00000394020.1_Missense_Mutation_p.G422W|ADAM19_ENST00000430702.2_Missense_Mutation_p.G153W|ADAM19_ENST00000257527.4_Missense_Mutation_p.G420W			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	420	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCCGTTCCCACACCTCCGG	0.532																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1258-1260)Ggg>Tgg		ADAM metallopeptidase domain 19							226.0	202.0	210.0					5																	156929861		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156929861C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1258G>T	5.37:g.156929861C>A	ENSP00000428654:p.Gly420Trp					ADAM19_ENST00000394020.1_Missense_Mutation_p.G422W|ADAM19_ENST00000430702.2_Missense_Mutation_p.G153W|ADAM19_ENST00000517905.1_Missense_Mutation_p.G420W	p.G420W	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1336	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	420			Disintegrin.		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.1258G>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.719631	0.89205	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;T;T;T	0.12984	2.63;2.83;3.06;2.84	5.21	5.21	0.72293	Blood coagulation inhibitor, Disintegrin (1);	0.000000	0.64402	D	0.000004	T	0.61578	0.2358	H	0.99675	4.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81586	-0.0865	10	0.87932	D	0	.	18.7895	0.91968	0.0:1.0:0.0:0.0	.	420;420;153	Q9H013-2;Q9H013;E9PD32	.;ADA19_HUMAN;.	W	153;420;422;420	ENSP00000414088:G153W;ENSP00000257527:G420W;ENSP00000377588:G422W;ENSP00000428654:G420W	ENSP00000257527:G420W	G	-	1	0	ADAM19	156862439	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	6.059000	0.71133	2.434000	0.82447	0.650000	0.86243	GGG		0.532	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		35	116	1	0	4.11147e-13	1	4.59518e-13	35	116				
TRAPPC12	51112	broad.mit.edu	37	2	3392051	3392051	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:3392051G>T	ENST00000324266.5	+	2	852	c.657G>T	c.(655-657)ttG>ttT	p.L219F	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L219F	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	219					vesicle-mediated transport (GO:0016192)												GCCACTCCTTGGCCTCGGACT	0.706																																						ENST00000324266.5																			0											c.(655-657)ttG>ttT		trafficking protein particle complex 12							38.0	46.0	44.0					2																	3392051		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3392051G>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.657G>T	2.37:g.3392051G>T	ENSP00000324318:p.Leu219Phe					TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L219F	p.L219F	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			2	852	+			219					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.657G>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270596	0.40194	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.57907	0.37;0.37	5.23	3.44	0.39384	.	0.331632	0.29653	N	0.011550	T	0.62258	0.2413	L	0.57536	1.79	0.39969	D	0.974768	D;D;D	0.76494	0.981;0.981;0.999	P;P;D	0.68192	0.708;0.708;0.956	T	0.61739	-0.7001	10	0.45353	T	0.12	.	6.9607	0.24595	0.2827:0.0:0.7173:0.0	.	202;219;219	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	F	219;202;219	ENSP00000371544:L219F;ENSP00000324318:L219F	ENSP00000303612:L202F	L	+	3	2	TTC15	3371058	0.982000	0.34865	0.944000	0.38274	0.131000	0.20780	0.856000	0.27818	0.892000	0.36259	-0.140000	0.14226	TTG		0.706	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		28	34	1	0	2.20474e-14	1	2.47382e-14	28	34				
KBTBD12	166348	broad.mit.edu	37	3	127682212	127682212	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:127682212G>A	ENST00000405109.1	+	5	2140	c.1673G>A	c.(1672-1674)gGg>gAg	p.G558E	KBTBD12_ENST00000343941.4_Missense_Mutation_p.G133E|KBTBD12_ENST00000407609.3_Missense_Mutation_p.G165E|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.G558E|RNA5SP139_ENST00000364340.1_RNA			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	558										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TATGTCTGCGGGGGATTCCAT	0.488																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1672-1674)gGg>gAg		kelch repeat and BTB (POZ) domain containing 12							40.0	32.0	35.0					3																	127682212		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127682212G>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1673G>A	3.37:g.127682212G>A	ENSP00000385957:p.Gly558Glu					KBTBD12_ENST00000405256.1_Missense_Mutation_p.G558E|KBTBD12_ENST00000407609.3_Missense_Mutation_p.G165E|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.G133E	p.G558E			Q3ZCT8	KBTBC_HUMAN			5	2140	+			558					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1673G>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878527	0.91740	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.17	5.17	0.71159	Kelch-type beta propeller (1);	0.000000	0.56097	D	0.000031	D	0.99414	0.9793	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98543	1.0633	10	0.87932	D	0	.	18.6662	0.91491	0.0:0.0:1.0:0.0	.	558;133	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	E	558;165;558;133	ENSP00000385957:G558E;ENSP00000385830:G165E;ENSP00000385879:G558E;ENSP00000345478:G133E	ENSP00000345478:G133E	G	+	2	0	KBTBD12	129164902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.431000	0.97494	2.414000	0.81942	0.591000	0.81541	GGG		0.488	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		8	33	0	0	0	1	0	8	33				
KIAA1210	57481	broad.mit.edu	37	X	118220813	118220813	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:118220813A>T	ENST00000402510.2	-	11	4379	c.4380T>A	c.(4378-4380)aaT>aaA	p.N1460K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1460										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CATGCTGGTTATTATTACCAT	0.443																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(4378-4380)aaT>aaA		KIAA1210							79.0	74.0	76.0					X																	118220813		1869	4094	5963	SO:0001583	missense	57481							g.chrX:118220813A>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4380T>A	X.37:g.118220813A>T	ENSP00000384670:p.Asn1460Lys						p.N1460K	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	4379	-			1460					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4380T>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.26|13.26	2.184096|2.184096	0.38609|0.38609	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.12672|.	2.66|.	3.61|3.61	-0.728|-0.728	0.11162|0.11162	.|.	.|.	.|.	.|.	.|.	T|.	0.35856|.	0.0946|.	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B|.	0.24823|.	0.112|.	B|.	0.23574|.	0.047|.	T|.	0.32161|.	-0.9917|.	8|.	.|.	.|.	.|.	.|.	4.3789|4.3789	0.11284|0.11284	0.4208:0.3878:0.0:0.1915|0.4208:0.3878:0.0:0.1915	.|.	1460|.	Q9ULL0|.	K1210_HUMAN|.	K|K	1460|867	ENSP00000384670:N1460K|.	.|.	N|X	-|-	3|1	2|0	RP13-347D8.6|KIAA1210	118104841|118104841	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.824000|0.824000	0.27379|0.27379	-0.340000|-0.340000	0.08388|0.08388	0.356000|0.356000	0.21956|0.21956	AAT|TAA		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		20	36	0	0	0	1	0	20	36				
CDH11	1009	broad.mit.edu	37	16	65026924	65026924	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:65026924G>C	ENST00000268603.4	-	5	1152	c.537C>G	c.(535-537)atC>atG	p.I179M	CDH11_ENST00000394156.3_Missense_Mutation_p.I179M|CDH11_ENST00000566827.1_Missense_Mutation_p.I53M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTCACCTGGATTACTGACG	0.368			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(535-537)atC>atG		cadherin 11, type 2, OB-cadherin (osteoblast)							151.0	131.0	138.0					16																	65026924		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65026924G>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.537C>G	16.37:g.65026924G>C	ENSP00000268603:p.Ile179Met	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.I179M|CDH11_ENST00000566827.1_Missense_Mutation_p.I53M	p.I179M			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	5	990	-		Ovarian(137;0.0973)	179			Cadherin 2.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.537C>G	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809441	0.50421	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.51817	0.69;0.69	5.92	-0.511	0.11970	Cadherin (4);Cadherin-like (1);	0.162312	0.51477	D	0.000089	T	0.37544	0.1007	N	0.10629	0.01	0.45378	D	0.998367	P;P	0.47484	0.896;0.866	P;P	0.58780	0.563;0.845	T	0.12041	-1.0563	10	0.33141	T	0.24	.	9.6506	0.39895	0.6118:0.0:0.3882:0.0	.	179;179	P55287-2;P55287	.;CAD11_HUMAN	M	179;179;162	ENSP00000268603:I179M;ENSP00000377711:I179M	ENSP00000268603:I179M	I	-	3	3	CDH11	63584425	0.962000	0.33011	0.842000	0.33263	0.963000	0.63663	0.149000	0.16243	-0.068000	0.12953	-0.259000	0.10710	ATC		0.368	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		30	59	0	0	0	1	0	30	59				
GHSR	2693	broad.mit.edu	37	3	172166087	172166087	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:172166087G>A	ENST00000241256.2	-	1	159	c.117C>T	c.(115-117)ccC>ccT	p.P39P	GHSR_ENST00000427970.1_Silent_p.P39P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	39					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCAGCGGCGCGGGGAAGAGCT	0.687																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(115-117)ccC>ccT		growth hormone secretagogue receptor							22.0	24.0	23.0					3																	172166087		2195	4288	6483	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172166087G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.117C>T	3.37:g.172166087G>A						GHSR_ENST00000427970.1_Silent_p.P39P	p.P39P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	159	-	Ovarian(172;0.00143)|Breast(254;0.197)		39					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.117C>T	CCDS3218.1																																																																																				0.687	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		5	82	0	0	0	1	0	5	82				
LRRC7	57554	broad.mit.edu	37	1	70541831	70541831	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:70541831T>C	ENST00000035383.5	+	22	4218	c.4188T>C	c.(4186-4188)taT>taC	p.Y1396Y	LRRC7_ENST00000310961.5_Silent_p.Y1354Y|LRRC7_ENST00000415775.2_Silent_p.Y680Y	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1396						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCAGCCGTATGAAGGAAATA	0.542																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4060-4062)taT>taC		leucine rich repeat containing 7							78.0	73.0	75.0					1																	70541831		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541831T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4188T>C	1.37:g.70541831T>C						LRRC7_ENST00000035383.5_Silent_p.Y1396Y|LRRC7_ENST00000415775.2_Silent_p.Y680Y	p.Y1354Y			Q96NW7	LRRC7_HUMAN			24	4480	+			1396					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4062T>C	CCDS645.1																																																																																				0.542	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		48	26	0	0	0	1	0	48	26				
BROX	148362	broad.mit.edu	37	1	222892303	222892303	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:222892303G>A	ENST00000340934.5	+	3	544	c.138G>A	c.(136-138)ctG>ctA	p.L46L	BROX_ENST00000537020.1_Silent_p.L46L|BROX_ENST00000539697.1_Silent_p.L46L	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	46						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCCTTGAACTGTTCACTGATT	0.358																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(136-138)ctG>ctA		BRO1 domain and CAAX motif containing							156.0	147.0	150.0					1																	222892303		2203	4300	6503	SO:0001819	synonymous_variant	148362					membrane		g.chr1:222892303G>A		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.138G>A	1.37:g.222892303G>A						BROX_ENST00000539697.1_Silent_p.L46L|BROX_ENST00000537020.1_Silent_p.L46L	p.L46L	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			3	544	+			46					B7Z9G5|Q96MG1	Silent	SNP	ENST00000340934.5	37	c.138G>A	CCDS1534.1																																																																																				0.358	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		33	132	0	0	0	1	0	33	132				
PDE3A	5139	broad.mit.edu	37	12	20769240	20769240	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:20769240G>T	ENST00000359062.3	+	4	1386	c.1346G>T	c.(1345-1347)gGt>gTt	p.G449V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCGGCCACAGGTCTACCCACC	0.562																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1345-1347)gGt>gTt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						131.0	117.0	121.0					12																	20769240		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769240G>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1346G>T	12.37:g.20769240G>T	ENSP00000351957:p.Gly449Val					PDE3A_ENST00000544307.1_3'UTR	p.G449V	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			4	1386	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	449					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1346G>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298497	0.81025	.	.	ENSG00000172572	ENST00000359062	T	0.53857	0.6	5.43	5.43	0.79202	.	0.652152	0.16372	N	0.217290	T	0.74122	0.3675	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74659	-0.3591	10	0.66056	D	0.02	.	19.5966	0.95541	0.0:0.0:1.0:0.0	.	449	Q14432	PDE3A_HUMAN	V	449	ENSP00000351957:G449V	ENSP00000351957:G449V	G	+	2	0	PDE3A	20660507	1.000000	0.71417	0.997000	0.53966	0.568000	0.35870	8.985000	0.93487	2.698000	0.92095	0.655000	0.94253	GGT		0.562	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			17	104	1	0	3.32936e-07	1	3.59419e-07	17	104				
RAB5A	5868	broad.mit.edu	37	3	20017551	20017551	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:20017551A>T	ENST00000273047.4	+	4	864	c.328A>T	c.(328-330)Aga>Tga	p.R110*	RAB5A_ENST00000422242.1_Nonsense_Mutation_p.R96*	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	110					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						GTCCTTTGCAAGAGCAAAAAA	0.403																																						ENST00000273047.4																			0				lung(1)|urinary_tract(1)	2						c.(328-330)Aga>Tga		RAB5A, member RAS oncogene family							59.0	57.0	58.0					3																	20017551		2203	4300	6503	SO:0001587	stop_gained	5868				blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr3:20017551A>T		CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.328A>T	3.37:g.20017551A>T	ENSP00000273047:p.Arg110*					RAB5A_ENST00000422242.1_Nonsense_Mutation_p.R96*	p.R110*	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN			4	864	+			110					B4DJA5|Q6FI44	Nonsense_Mutation	SNP	ENST00000273047.4	37	c.328A>T	CCDS2633.1	.	.	.	.	.	.	.	.	.	.	A	37	6.206817	0.97376	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	.	.	.	5.02	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.7677	11.9626	0.53017	0.8547:0.1453:0.0:0.0	.	.	.	.	X	110;96	.	.	R	+	1	2	RAB5A	19992555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.250000	0.58772	0.819000	0.34492	0.460000	0.39030	AGA		0.403	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2	NM_004162		16	31	0	0	0	1	0	16	31				
MIR17HG	407975	broad.mit.edu	37	13	92003611	92003611	+	RNA	SNP	A	A	G	rs374040259		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:92003611A>G	ENST00000362310.2	+	0	184				MIR17HG_ENST00000384829.1_RNA|MIR17HG_ENST00000385233.2_RNA|MIR17HG_ENST00000384878.1_RNA|MIR17HG_ENST00000362279.1_RNA|MIR17HG_ENST00000385012.1_RNA	NR_029488.1		Q75NE6	MIRH1_HUMAN	miR-17-92 cluster host gene (non-protein coding)							integral component of membrane (GO:0016021)											GTGTTTCTGTATGGTATTGCA	0.408																																						ENST00000385233.2																			0															A		0,3136		0,0,1568	217.0	175.0	188.0			-0.3	1.0	13		188	3,7161		0,3,3579	no	intergenic				0,3,5147	GG,GA,AA		0.0419,0.0,0.0291			92003611	3,10297	1568	3582	5150			407975							g.chr13:92003611A>G	AB176707		13q31.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000215417	ENSG00000215417		"""-"""	23564	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 48"", ""long intergenic non-protein coding RNA 48"""	609415	"""chromosome 13 open reading frame 25"", ""microRNA host gene 1 (non-protein coding)"", ""MIR17 host gene (non-protein coding)"""	C13orf25, MIRHG1		15126345, 15944707, 16266980, 17210683, 23551855	Standard	NR_027349		Approved	FLJ14178, MIRH1, MIHG1, NCRNA00048, miR-17-92, LINC00048	uc010tie.1	Q75NE6	OTTHUMG00000017195		13.37:g.92003611A>G								NR_029508.1						0	44	+								A4QMU7|Q75NE7	RNA	SNP	ENST00000362310.2	37																																																																																						0.408	MIR17HG-202	KNOWN	basic	miRNA	processed_transcript		NR_027349		125	43	0	0	0	1	0	125	43				
ZNF415	55786	broad.mit.edu	37	19	53612343	53612343	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53612343G>C	ENST00000500065.4	-	4	1288	c.955C>G	c.(955-957)Cag>Gag	p.Q319E	ZNF415_ENST00000455735.2_Missense_Mutation_p.Q367E|ZNF415_ENST00000440291.1_Missense_Mutation_p.Q306E|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q331E|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.Q89E|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q367E	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGAGTTTTCTGATGTAGTGCA	0.418																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1099-1101)Cag>Gag		zinc finger protein 415							88.0	82.0	84.0					19																	53612343		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612343G>C	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.955C>G	19.37:g.53612343G>C	ENSP00000439435:p.Gln319Glu					ZNF415_ENST00000601493.1_Missense_Mutation_p.Q89E|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q331E|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q367E|ZNF415_ENST00000440291.1_Missense_Mutation_p.Q306E|ZNF415_ENST00000500065.4_Missense_Mutation_p.Q319E	p.Q367E			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1419	-			367					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1099C>G	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	6.835	0.523352	0.13066	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	2.78	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	N	0.10733	0.035	0.09310	N	1	B;P;B;P;B;B	0.46912	0.012;0.71;0.005;0.886;0.002;0.3	B;B;B;P;B;B	0.54270	0.001;0.288;0.002;0.747;0.001;0.026	T	0.11518	-1.0584	9	0.59425	D	0.04	.	1.7403	0.02951	0.128:0.2015:0.4648:0.2056	.	319;367;367;319;306;331	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	E	319;319;367;331;367;306	ENSP00000243643:Q319E;ENSP00000439435:Q319E;ENSP00000396492:Q367E;ENSP00000395055:Q331E;ENSP00000388787:Q367E;ENSP00000414601:Q306E	ENSP00000243643:Q319E	Q	-	1	0	ZNF415	58304155	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.047000	0.01408	0.513000	0.28278	0.491000	0.48974	CAG		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		28	111	0	0	0	1	0	28	111				
PIWIL3	440822	broad.mit.edu	37	22	25119107	25119107	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:25119107T>C	ENST00000332271.5	-	19	2790	c.2374A>G	c.(2374-2376)Agg>Ggg	p.R792G	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674G|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674G	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	792	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTCATTCCTAGTCAACTCT	0.343																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2374-2376)Agg>Ggg		piwi-like RNA-mediated gene silencing 3							152.0	144.0	147.0					22																	25119107		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25119107T>C	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2374A>G	22.37:g.25119107T>C	ENSP00000330031:p.Arg792Gly					PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674G|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674G	p.R792G	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			19	2790	-			792			Piwi.			Missense_Mutation	SNP	ENST00000332271.5	37	c.2374A>G	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671806	0.47781	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.31247	1.5;1.5;1.5	2.72	1.63	0.23807	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.117673	0.51477	D	0.000086	T	0.49081	0.1536	M	0.77103	2.36	0.44006	D	0.996712	D;P;D	0.89917	0.996;0.795;1.0	D;P;D	0.81914	0.96;0.636;0.995	T	0.39761	-0.9598	10	0.40728	T	0.16	-1.8903	7.2527	0.26158	0.0:0.0:0.2254:0.7746	.	674;783;792	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	G	792;674;674	ENSP00000330031:R792G;ENSP00000431843:R674G;ENSP00000435718:R674G	ENSP00000330031:R792G	R	-	1	2	PIWIL3	23449107	0.997000	0.39634	0.111000	0.21465	0.239000	0.25481	1.700000	0.37815	0.441000	0.26529	0.459000	0.35465	AGG		0.343	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		4	149	0	0	0	1	0	4	149				
POTEA	340441	broad.mit.edu	37	8	43147662	43147662	+	RNA	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:43147662C>T	ENST00000522175.2	+	0	37							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGGCTGCCTCCCCTATGAAG	0.562																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							42.0	44.0	43.0					8																	43147662		2187	4290	6477			340441							g.chr8:43147662C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147662C>T										Q6S8J7	POTEA_HUMAN			0	37	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.562	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		25	48	0	0	0	1	0	25	48				
ZIC5	85416	broad.mit.edu	37	13	100617831	100617831	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:100617831G>A	ENST00000267294.4	-	2	2025	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	598					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGGACAAGGGGGCGCCCACT	0.612																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1792-1794)Ccc>Tcc		Zic family member 5							81.0	86.0	84.0					13																	100617831		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617831G>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1792C>T	13.37:g.100617831G>A	ENSP00000267294:p.Pro598Ser						p.P598S	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2025	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		598					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1792C>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007879	0.35415	.	.	ENSG00000139800	ENST00000267294	T	0.12569	2.67	6.06	5.21	0.72293	.	.	.	.	.	T	0.10165	0.0249	L	0.49126	1.545	0.40762	D	0.983011	P	0.34864	0.473	B	0.28553	0.091	T	0.06267	-1.0836	9	0.07325	T	0.83	.	9.1668	0.37056	0.0732:0.0:0.7797:0.147	.	598	Q96T25	ZIC5_HUMAN	S	598	ENSP00000267294:P598S	ENSP00000267294:P598S	P	-	1	0	ZIC5	99415832	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.275000	0.43399	1.540000	0.49301	0.655000	0.94253	CCC		0.612	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		25	92	0	0	0	1	0	25	92				
ZNF540	163255	broad.mit.edu	37	19	38103844	38103844	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:38103844G>A	ENST00000592533.1	+	5	1995	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	ZNF540_ENST00000589117.1_Missense_Mutation_p.E523K|ZNF540_ENST00000343599.5_Missense_Mutation_p.E555K|ZNF540_ENST00000316433.4_Missense_Mutation_p.E555K	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	555					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGACTGTAAAGAATGTGGGAA	0.388																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(1663-1665)Gaa>Aaa		zinc finger protein 540							89.0	99.0	96.0					19																	38103844		2203	4300	6503	SO:0001583	missense	163255							g.chr19:38103844G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1663G>A	19.37:g.38103844G>A	ENSP00000466274:p.Glu555Lys					ZNF540_ENST00000316433.4_Missense_Mutation_p.E555K|ZNF540_ENST00000589117.1_Missense_Mutation_p.E523K|ZNF540_ENST00000343599.5_Missense_Mutation_p.E555K	p.E555K	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1995	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1663G>A	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376157	0.82682	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.07327	3.2	2.27	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11922	0.0290	L	0.37750	1.13	0.09310	N	0.999999	P;P	0.52463	0.842;0.953	B;P	0.50082	0.4;0.63	T	0.15435	-1.0437	9	0.66056	D	0.02	.	11.5759	0.50860	0.0:0.0:1.0:0.0	.	523;555	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	K	555;523	ENSP00000324598:E555K	ENSP00000324598:E555K	E	+	1	0	ZNF540	42795684	0.000000	0.05858	0.262000	0.24481	0.940000	0.58332	-0.150000	0.10189	1.241000	0.43820	0.305000	0.20034	GAA		0.388	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		9	162	0	0	0	1	0	9	162				
ZNF781	163115	broad.mit.edu	37	19	38160504	38160504	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:38160504T>C	ENST00000590008.1	-	5	1398	c.546A>G	c.(544-546)tcA>tcG	p.S182S	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Silent_p.S182S|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GAGCAATTATTGAATGCTTTG	0.378																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(544-546)tcA>tcG		zinc finger protein 781							87.0	84.0	85.0					19																	38160504		2203	4300	6503	SO:0001819	synonymous_variant	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160504T>C	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.546A>G	19.37:g.38160504T>C						ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Silent_p.S182S	p.S182S	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1294	-			182					Q2VPJ8	Silent	SNP	ENST00000590008.1	37	c.546A>G	CCDS12507.1																																																																																				0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		33	153	0	0	0	1	0	33	153				
SCAF1	58506	broad.mit.edu	37	19	50150067	50150067	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:50150067C>T	ENST00000360565.3	+	6	582	c.458C>T	c.(457-459)gCc>gTc	p.A153V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	153					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGTCTCAGGGCCTGGAGGACG	0.632																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(457-459)gCc>gTc		SR-related CTD-associated factor 1							31.0	23.0	25.0					19																	50150067		2203	4300	6503	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50150067C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.458C>T	19.37:g.50150067C>T	ENSP00000353769:p.Ala153Val						p.A153V	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	6	582	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	153					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.458C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545558	0.45280	.	.	ENSG00000126461	ENST00000360565;ENST00000447618	T	0.36157	1.27	4.56	4.56	0.56223	.	0.000000	0.42420	D	0.000712	T	0.43366	0.1244	N	0.19112	0.55	0.30647	N	0.755849	D	0.67145	0.996	D	0.77557	0.99	T	0.44711	-0.9310	10	0.72032	D	0.01	-27.8509	12.6959	0.57003	0.0:1.0:0.0:0.0	.	153	Q9H7N4	SFR19_HUMAN	V	153	ENSP00000353769:A153V	ENSP00000353769:A153V	A	+	2	0	SCAF1	54841879	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.759000	0.55227	2.387000	0.81309	0.561000	0.74099	GCC		0.632	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		11	11	0	0	0	1	0	11	11				
BIRC8	112401	broad.mit.edu	37	19	53793208	53793208	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53793208C>T	ENST00000426466.1	-	1	1667	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	140					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TATAGTTGCTCCCAGATGTTT	0.378																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(418-420)ggG>ggA		baculoviral IAP repeat containing 8							131.0	134.0	133.0					19																	53793208		2203	4300	6503	SO:0001819	synonymous_variant	112401				apoptosis		zinc ion binding	g.chr19:53793208C>T	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.420G>A	19.37:g.53793208C>T							p.G140G	NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1667	-			140					Q6IPY1|Q96RW5	Silent	SNP	ENST00000426466.1	37	c.420G>A	CCDS12863.1																																																																																				0.378	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		38	218	0	0	0	1	0	38	218				
LRRC4C	57689	broad.mit.edu	37	11	40137329	40137329	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:40137329G>C	ENST00000278198.2	-	2	2477	c.514C>G	c.(514-516)Cct>Gct	p.P172A	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	172					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCAAAGAAGGAATTCTGTTA	0.428																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(514-516)Cct>Gct		leucine rich repeat containing 4C							92.0	92.0	92.0					11																	40137329		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137329G>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.514C>G	11.37:g.40137329G>C	ENSP00000278198:p.Pro172Ala					LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172A	p.P172A			Q9HCJ2	LRC4C_HUMAN			2	2477	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	172					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.514C>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048414	0.36181	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.82	5.82	0.92795	.	0.052648	0.85682	D	0.000000	D	0.89132	0.6628	L	0.58510	1.815	0.58432	D	0.999996	B	0.33044	0.395	B	0.33960	0.173	D	0.86037	0.1517	10	0.20046	T	0.44	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	172	Q9HCJ2	LRC4C_HUMAN	A	172	ENSP00000278198:P172A;ENSP00000436976:P172A;ENSP00000437132:P172A;ENSP00000434761:P172A	ENSP00000278198:P172A	P	-	1	0	LRRC4C	40093905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.867000	0.87062	2.754000	0.94517	0.650000	0.86243	CCT		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		28	73	0	0	0	1	0	28	73				
HS1BP3	64342	broad.mit.edu	37	2	20840568	20840568	+	Intron	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:20840568C>T	ENST00000304031.3	-	3	432				HS1BP3_ENST00000406618.3_Missense_Mutation_p.A191T|HS1BP3_ENST00000402541.1_Intron	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3								phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTTCTGCCCACCATCCA	0.627																																						ENST00000406618.3																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(571-573)Gca>Aca		HCLS1 binding protein 3																																				SO:0001627	intron_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20840568C>T		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.406+164G>A	2.37:g.20840568C>T						HS1BP3_ENST00000402541.1_Intron|HS1BP3_ENST00000304031.3_Intron	p.A191T			Q53T59	H1BP3_HUMAN			3	591	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0					B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	ENST00000304031.3	37	c.571G>A	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	C	9.939	1.216836	0.22373	.	.	ENSG00000118960	ENST00000406618	.	.	.	3.48	1.46	0.22682	.	.	.	.	.	T	0.22437	0.0541	.	.	.	0.09310	N	1	B	0.30482	0.281	B	0.19946	0.027	T	0.21042	-1.0257	7	0.87932	D	0	.	4.3338	0.11076	0.0:0.6302:0.2361:0.1338	.	191	B5MC96	.	T	191	.	ENSP00000385788:A191T	A	-	1	0	HS1BP3	20704049	0.005000	0.15991	0.001000	0.08648	0.098000	0.18820	0.868000	0.27982	0.781000	0.33589	0.561000	0.74099	GCA		0.627	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		7	11	0	0	0	1	0	7	11				
FOXB2	442425	broad.mit.edu	37	9	79634747	79634747	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:79634747C>A	ENST00000376708.1	+	1	177	c.177C>A	c.(175-177)aaC>aaA	p.N59K		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	59					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GCTGGCAGAACAGCCTGCGCC	0.612																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(175-177)aaC>aaA		forkhead box B2							78.0	70.0	73.0					9																	79634747		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 activator activity|transcription factor binding	g.chr9:79634747C>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.177C>A	9.37:g.79634747C>A	ENSP00000365898:p.Asn59Lys						p.N59K	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	177	+			59						Missense_Mutation	SNP	ENST00000376708.1	37	c.177C>A	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835953	0.50951	.	.	ENSG00000204612	ENST00000376708	D	0.96856	-4.15	4.3	3.37	0.38596	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.98951	4.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98472	1.0601	10	0.87932	D	0	.	12.9417	0.58348	0.0:0.9154:0.0:0.0846	.	59	Q5VYV0	FOXB2_HUMAN	K	59	ENSP00000365898:N59K	ENSP00000365898:N59K	N	+	3	2	FOXB2	78824567	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.949000	0.40313	2.104000	0.64026	0.561000	0.74099	AAC		0.612	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		27	14	1	0	1.5548e-18	1	1.78677e-18	27	14				
SALL3	27164	broad.mit.edu	37	18	76753744	76753744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:76753744C>T	ENST00000537592.2	+	2	1753	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	SALL3_ENST00000536229.3_Nonsense_Mutation_p.Q452*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.Q585*	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	585					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGTCCCCACAGTCGCTCCT	0.746																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1354-1356)Cag>Tag		spalt-like transcription factor 3							4.0	5.0	5.0					18																	76753744		1691	3609	5300	SO:0001587	stop_gained	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753744C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1753C>T	18.37:g.76753744C>T	ENSP00000441823:p.Gln585*					SALL3_ENST00000537592.2_Nonsense_Mutation_p.Q585*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.Q585*	p.Q452*			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2063	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	585					Q9UGH1	Nonsense_Mutation	SNP	ENST00000537592.2	37	c.1354C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	41	9.010546	0.99035	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	.	.	.	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-42.0809	19.1283	0.93394	0.0:1.0:0.0:0.0	.	.	.	.	X	585;585;317	.	ENSP00000299466:Q585X	Q	+	1	0	SALL3	74854732	1.000000	0.71417	0.959000	0.39883	0.039000	0.13416	4.839000	0.62810	2.584000	0.87258	0.563000	0.77884	CAG		0.746	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	17	0	0	0	1	0	3	17				
XKR9	389668	broad.mit.edu	37	8	71619234	71619234	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:71619234C>T	ENST00000408926.3	+	4	873	c.339C>T	c.(337-339)ttC>ttT	p.F113F	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.F113F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	113						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTAGTAACTTCGTGGAAGAAC	0.358																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(337-339)ttC>ttT		XK, Kell blood group complex subunit-related family, member 9							83.0	83.0	83.0					8																	71619234		2203	4300	6503	SO:0001819	synonymous_variant	389668					integral to membrane		g.chr8:71619234C>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.339C>T	8.37:g.71619234C>T						XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.F113F	p.F113F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	873	+	Breast(64;0.0716)		113					B2RNS9|B9EH74	Silent	SNP	ENST00000408926.3	37	c.339C>T	CCDS34905.1																																																																																				0.358	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		23	101	0	0	0	1	0	23	101				
DPM1	8813	broad.mit.edu	37	20	49575387	49575387	+	5'Flank	SNP	C	C	T	rs187280062	byFrequency	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:49575387C>T	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Missense_Mutation_p.S3F|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GCCATGGCTTCCCGGGAGGAG	0.522																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(7-9)tCc>tTc		molybdenum cofactor synthesis 3							45.0	43.0	44.0					20																	49575387		2124	4178	6302	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575387C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575387C>T	Exception_encountered						p.S3F	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	25	+			3					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.8C>T	CCDS13434.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.131	1.011477	0.19277	.	.	ENSG00000124217	ENST00000244051	T	0.72942	-0.7	5.1	3.14	0.36123	.	0.477160	0.23139	N	0.051487	T	0.46328	0.1387	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.19946	0.027	T	0.26849	-1.0091	9	.	.	.	-0.7735	9.0979	0.36651	0.0:0.7744:0.1469:0.0787	.	3	O95396	MOCS3_HUMAN	F	3	ENSP00000244051:S3F	.	S	+	2	0	MOCS3	49008794	0.000000	0.05858	0.086000	0.20670	0.059000	0.15707	0.277000	0.18734	0.832000	0.34804	0.655000	0.94253	TCC		0.522	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		25	69	0	0	0	1	0	25	69				
ATG9B	285973	broad.mit.edu	37	7	150713811	150713811	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:150713811G>A	ENST00000377974.2	-	11	2460	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L	ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_Silent_p.L281L|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	796					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGGCAAGGAGGCTGGCTG	0.652																																						ENST00000377974.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2383-2385)ctC>ctT		autophagy related 9B							23.0	27.0	26.0					7																	150713811		1982	4159	6141	SO:0001819	synonymous_variant	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150713811G>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2385C>T	7.37:g.150713811G>A						ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.L281L	p.L795L			Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	2460	-	all_neural(206;0.219)		796					A1A5D3|Q6JRW5|Q8N8I8	Silent	SNP	ENST00000377974.2	37	c.2385C>T																																																																																					0.652	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		11	47	0	0	0	1	0	11	47				
ASXL3	80816	broad.mit.edu	37	18	31325430	31325430	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:31325430C>T	ENST00000269197.5	+	12	5618	c.5618C>T	c.(5617-5619)cCa>cTa	p.P1873L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAGCCAGCCATTTAAGCAA	0.488																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5617-5619)cCa>cTa		additional sex combs like 3 (Drosophila)							188.0	191.0	190.0					18																	31325430		2065	4194	6259	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325430C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5618C>T	18.37:g.31325430C>T	ENSP00000269197:p.Pro1873Leu						p.P1873L	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5618	+			1873					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5618C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	1.621	-0.521403	0.04171	.	.	ENSG00000141431	ENST00000269197	T	0.16196	2.36	5.76	4.89	0.63831	.	.	.	.	.	T	0.10809	0.0264	N	0.24115	0.695	0.27502	N	0.951943	B	0.06786	0.001	B	0.08055	0.003	T	0.23332	-1.0191	9	0.26408	T	0.33	.	6.2971	0.21091	0.1385:0.6578:0.1335:0.0703	.	1873	Q9C0F0	ASXL3_HUMAN	L	1873	ENSP00000269197:P1873L	ENSP00000269197:P1873L	P	+	2	0	ASXL3	29579428	0.673000	0.27539	0.719000	0.30619	0.027000	0.11550	1.239000	0.32719	1.402000	0.46780	0.650000	0.86243	CCA		0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			129	123	0	0	0	1	0	129	123				
CASD1	64921	broad.mit.edu	37	7	94176486	94176486	+	Splice_Site	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:94176486A>T	ENST00000297273.4	+	13	1999	c.1712A>T	c.(1711-1713)cAg>cTg	p.Q571L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	571						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATATTCTCAGGTTTGTACA	0.279																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.e13+1		CAS1 domain containing 1							100.0	98.0	98.0					7																	94176486		2202	4298	6500	SO:0001630	splice_region_variant	64921					integral to membrane		g.chr7:94176486A>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1713+1A>T	7.37:g.94176486A>T							p.Q571_splice	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	1999	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		571					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Splice_Site	SNP	ENST00000297273.4	37	c.1713_splice	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074801	0.76415	.	.	ENSG00000127995	ENST00000297273	T	0.47177	0.85	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.59357	0.985;0.985	D;D	0.74023	0.982;0.982	T	0.68515	-0.5388	10	0.87932	D	0	.	15.2858	0.73828	1.0:0.0:0.0:0.0	.	571;571	Q8WZ77;Q96PB1	.;CASD1_HUMAN	L	571	ENSP00000297273:Q571L	ENSP00000297273:Q571L	Q	+	2	0	CASD1	94014422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.309000	0.65774	2.083000	0.62718	0.454000	0.30748	CAG		0.279	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	Missense_Mutation	54	95	0	0	0	1	0	54	95				
TSPEAR	54084	broad.mit.edu	37	21	45949798	45949798	+	Missense_Mutation	SNP	C	C	A	rs146216896		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:45949798C>A	ENST00000323084.4	-	5	738	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A157S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	225	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTTGGGGTGGCGTCTGAGCCC	0.672																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(673-675)Gcc>Tcc		thrombospondin-type laminin G domain and EAR repeats							33.0	37.0	36.0					21																	45949798		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949798C>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.673G>T	21.37:g.45949798C>A	ENSP00000321987:p.Ala225Ser					TSPEAR_ENST00000397916.1_Missense_Mutation_p.A157S	p.A225S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	738	-			225						Missense_Mutation	SNP	ENST00000323084.4	37	c.673G>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144400	0.94603	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.44881	0.91;0.91	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	M	0.79475	2.455	0.80722	D	1	D	0.65815	0.995	P	0.61328	0.887	T	0.68773	-0.5320	10	0.59425	D	0.04	-12.0784	18.5157	0.90935	0.0:1.0:0.0:0.0	.	225	Q8WU66	TSEAR_HUMAN	S	225;157;225	ENSP00000321987:A225S;ENSP00000381012:A157S	ENSP00000321987:A225S	A	-	1	0	TSPEAR	44774226	1.000000	0.71417	0.994000	0.49952	0.721000	0.41392	6.738000	0.74822	2.382000	0.81193	0.491000	0.48974	GCC		0.672	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		7	25	1	0	1.12685e-05	1	1.18071e-05	7	25				
UBE3B	89910	broad.mit.edu	37	12	109921470	109921470	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:109921470C>T	ENST00000342494.3	+	3	709	c.114C>T	c.(112-114)gcC>gcT	p.A38A	UBE3B_ENST00000280774.5_Silent_p.A38A|UBE3B_ENST00000340074.5_Silent_p.A38A|UBE3B_ENST00000536398.1_Silent_p.A38A|UBE3B_ENST00000537063.1_Silent_p.A38A|UBE3B_ENST00000540230.1_Silent_p.A38A|UBE3B_ENST00000434735.2_Silent_p.A38A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	38	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATCCAGGCCCATGTCCGGA	0.537																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(112-114)gcC>gcT		ubiquitin protein ligase E3B							158.0	150.0	153.0					12																	109921470		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109921470C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.114C>T	12.37:g.109921470C>T						UBE3B_ENST00000537063.1_Silent_p.A38A|UBE3B_ENST00000536398.1_Silent_p.A38A|UBE3B_ENST00000340074.5_Silent_p.A38A|UBE3B_ENST00000280774.5_Silent_p.A38A|UBE3B_ENST00000434735.2_Silent_p.A38A|UBE3B_ENST00000540230.1_Silent_p.A38A	p.A38A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			3	709	+			38			IQ.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.114C>T	CCDS9129.1																																																																																				0.537	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		46	94	0	0	0	1	0	46	94				
GPC5	2262	broad.mit.edu	37	13	93518618	93518618	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:93518618G>A	ENST00000377067.3	+	8	2017	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	549					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AACAGGAGCAGGATGTGCAGT	0.438																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1645-1647)Gga>Aga		glypican 5							341.0	257.0	286.0					13																	93518618		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518618G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1645G>A	13.37:g.93518618G>A	ENSP00000366267:p.Gly549Arg						p.G549R	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			8	2017	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	549					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1645G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416549	0.42918	.	.	ENSG00000179399	ENST00000377067	T	0.50277	0.75	5.81	4.97	0.65823	.	0.177642	0.26598	N	0.023492	T	0.56848	0.2013	L	0.47716	1.5	0.29791	N	0.833202	D	0.56968	0.978	P	0.59825	0.864	T	0.59418	-0.7458	10	0.72032	D	0.01	-6.5237	12.079	0.53659	0.0788:0.0:0.9212:0.0	.	549	P78333	GPC5_HUMAN	R	549	ENSP00000366267:G549R	ENSP00000366267:G549R	G	+	1	0	GPC5	92316619	1.000000	0.71417	0.030000	0.17652	0.087000	0.18053	3.491000	0.53252	1.453000	0.47775	0.650000	0.86243	GGA		0.438	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		100	37	0	0	0	1	0	100	37				
ALX4	60529	broad.mit.edu	37	11	44286580	44286580	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:44286580C>A	ENST00000329255.3	-	4	1163	c.1060G>T	c.(1060-1062)Ggg>Tgg	p.G354W		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	354					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGCCAGCCCCAGACACACTC	0.682																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1060-1062)Ggg>Tgg		ALX homeobox 4							42.0	40.0	41.0					11																	44286580		2203	4298	6501	SO:0001583	missense	60529				hair follicle development			g.chr11:44286580C>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1060G>T	11.37:g.44286580C>A	ENSP00000332744:p.Gly354Trp						p.G354W	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1163	-			354					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.1060G>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416987	0.62511	.	.	ENSG00000052850	ENST00000329255	D	0.92199	-2.99	5.19	5.19	0.71726	.	0.069508	0.64402	D	0.000006	D	0.91901	0.7436	L	0.38175	1.15	0.35161	D	0.77064	D	0.63880	0.993	P	0.58970	0.849	D	0.94058	0.7324	10	0.72032	D	0.01	.	10.7316	0.46100	0.0:0.8517:0.0:0.1483	.	354	Q9H161	ALX4_HUMAN	W	354	ENSP00000332744:G354W	ENSP00000332744:G354W	G	-	1	0	ALX4	44243156	0.993000	0.37304	0.990000	0.47175	0.995000	0.86356	2.819000	0.48049	2.575000	0.86900	0.561000	0.74099	GGG		0.682	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			24	39	1	0	8.24728e-16	1	9.29042e-16	24	39				
RBPMS	11030	broad.mit.edu	37	8	30332300	30332300	+	Silent	SNP	G	G	C	rs368733156		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:30332300G>C	ENST00000320203.4	+	2	654	c.72G>C	c.(70-72)cgG>cgC	p.R24R	RBPMS_ENST00000397323.4_Silent_p.R24R|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.R24R|RBPMS_ENST00000287771.5_Silent_p.R24R|RBPMS_ENST00000538486.1_Silent_p.R24R|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.R24R	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	24	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.R24R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCCAGGTCCGGACCCTATTTG	0.388																																						ENST00000320203.4																			1	Substitution - coding silent(1)	p.R24R(1)	ovary(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(70-72)cgG>cgC		RNA binding protein with multiple splicing							169.0	177.0	174.0					8																	30332300		2203	4300	6503	SO:0001819	synonymous_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30332300G>C	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.72G>C	8.37:g.30332300G>C						RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.R24R|RBPMS_ENST00000538486.1_Silent_p.R24R|RBPMS_ENST00000287771.5_Silent_p.R24R|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.R24R|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000397323.4_Silent_p.R24R	p.R24R	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	2	654	+			24			RRM.		D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.72G>C	CCDS6077.1																																																																																				0.388	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			112	60	0	0	0	1	0	112	60				
ZNF471	57573	broad.mit.edu	37	19	57036677	57036677	+	Missense_Mutation	SNP	C	C	T	rs372818781		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:57036677C>T	ENST00000308031.5	+	5	1374	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACCTTCAGCTCGGGTTCATCC	0.413																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1240-1242)tCg>tTg		zinc finger protein 471		C	LEU/SER	0,4406		0,0,2203	82.0	81.0	82.0		1241	0.5	0.0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF471	NM_020813.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	414/627	57036677	1,13005	2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036677C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1241C>T	19.37:g.57036677C>T	ENSP00000309161:p.Ser414Leu					ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	p.S414L	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1374	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	414					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1241C>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	1.528	-0.545072	0.04024	0.0	1.16E-4	ENSG00000196263	ENST00000308031	T	0.06294	3.32	3.2	0.457	0.16661	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	N	0.25957	0.775	0.09310	N	1	B	0.31026	0.304	B	0.23275	0.045	T	0.46133	-0.9213	9	0.11794	T	0.64	.	3.7585	0.08595	0.56:0.2583:0.1816:0.0	.	414	Q9BX82	ZN471_HUMAN	L	414	ENSP00000309161:S414L	ENSP00000309161:S414L	S	+	2	0	ZNF471	61728489	0.000000	0.05858	0.001000	0.08648	0.947000	0.59692	-3.040000	0.00633	-0.145000	0.11294	0.462000	0.41574	TCG		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		46	96	0	0	0	1	0	46	96				
RCVRN	5957	broad.mit.edu	37	17	9808174	9808174	+	Silent	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:9808174G>C	ENST00000226193.5	-	1	764	c.324C>G	c.(322-324)ctC>ctG	p.L108L		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	108	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCACGTCGTAGAGGGAGAAGG	0.617																																						ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(322-324)ctC>ctG		recoverin							175.0	137.0	150.0					17																	9808174		2203	4300	6503	SO:0001819	synonymous_variant	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9808174G>C	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.324C>G	17.37:g.9808174G>C							p.L108L	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			1	764	-			108			EF-hand 3.		Q53XL0	Silent	SNP	ENST00000226193.5	37	c.324C>G	CCDS11151.1																																																																																				0.617	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		26	97	0	0	0	1	0	26	97				
KIAA1549L	25758	broad.mit.edu	37	11	33565886	33565886	+	Intron	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:33565886C>T	ENST00000321505.4	+	1	2062				KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A629V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A629V			Q6ZVL6	K154L_HUMAN	KIAA1549-like							integral component of membrane (GO:0016021)											TGGACAGGTGCAGCCACTAAT	0.507																																						ENST00000389726.3																			0											c.(1885-1887)gCa>gTa		KIAA1549-like							83.0	85.0	84.0					11																	33565886		1920	4099	6019	SO:0001627	intron_variant	25758							g.chr11:33565886C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1882+4C>T	11.37:g.33565886C>T						KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A629V|KIAA1549L_ENST00000321505.4_Intron	p.A629V	NM_012194.2	NP_036326.2					1	2010	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.1886C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237674	0.79800	.	.	ENSG00000110427	ENST00000389726;ENST00000265654	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.30142	N	0.803816	B;D	0.55605	0.437;0.972	B;P	0.51453	0.115;0.67	T	0.54009	-0.8357	7	0.33141	T	0.24	0.0708	17.7467	0.88423	0.0:1.0:0.0:0.0	.	629;629	E9PAT2;Q6ZVL6-2	.;.	V	629	.	ENSP00000265654:A629V	A	+	2	0	C11orf41	33522462	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	1.781000	0.38644	2.624000	0.88883	0.442000	0.29010	GCA		0.507	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		8	85	0	0	0	1	0	8	85				
MCM3AP	8888	broad.mit.edu	37	21	47662745	47662745	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:47662745C>T	ENST00000397708.1	-	26	5651	c.5397G>A	c.(5395-5397)acG>acA	p.T1799T	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.T1799T			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1799					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCTCCTTCTGCGTCTGCAACC	0.393																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5395-5397)acG>acA		minichromosome maintenance complex component 3 associated protein							143.0	113.0	123.0					21																	47662745		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47662745C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5397G>A	21.37:g.47662745C>T						MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.T1799T|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA	p.T1799T			O60318	MCM3A_HUMAN			26	5651	-	Breast(49;0.112)		1799					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.5397G>A	CCDS13734.1																																																																																				0.393	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		7	96	0	0	0	1	0	7	96				
DUOXA2	405753	broad.mit.edu	37	15	45406917	45406917	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:45406917C>T	ENST00000323030.5	+	1	399	c.114C>T	c.(112-114)ttC>ttT	p.F38F	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	38					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CAGCAAGCTTCCTGCTCATCT	0.577																																						ENST00000323030.5																			0											c.(112-114)ttC>ttT		dual oxidase maturation factor 2							147.0	131.0	137.0					15																	45406917		2198	4298	6496	SO:0001819	synonymous_variant	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45406917C>T	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.114C>T	15.37:g.45406917C>T							p.F38F	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	1	399	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	38					B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	c.114C>T	CCDS10118.2																																																																																				0.577	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		27	72	0	0	0	1	0	27	72				
SYTL2	54843	broad.mit.edu	37	11	85428535	85428535	+	Intron	SNP	C	C	T	rs376203930		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:85428535C>T	ENST00000528231.1	-	9	1893				SYTL2_ENST00000359152.5_Intron|SYTL2_ENST00000525702.1_5'Flank|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000389958.3_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V874I|SYTL2_ENST00000389960.4_Missense_Mutation_p.V552I|SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000524452.1_Missense_Mutation_p.V552I|SYTL2_ENST00000527523.1_Missense_Mutation_p.V504I|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000533892.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCTTGGTACGCATTCATTT	0.343																																						ENST00000354566.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2620-2622)Gta>Ata		synaptotagmin-like 2		T	,,,ILE/VAL,ILE/VAL,,,	0,4406		0,0,2203	245.0	228.0	233.0		,,,1654,2620,,,	-1.7	0.9	11		233	1,8597	819.1+/-406.8	0,1,4298	no	intron,utr-5,intron,missense,missense,intron,utr-5,intron	SYTL2	NM_001162951.1,NM_001162952.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2,NM_206929.2,NM_206930.2	,,,29,29,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,benign,benign,,,	,,,552/911,874/1273,,,	85428535	1,13003	2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85428535C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1615+1297G>A	11.37:g.85428535C>T						SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389958.3_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.V552I|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000533892.1_5'UTR|SYTL2_ENST00000527523.1_Missense_Mutation_p.V504I|SYTL2_ENST00000359152.5_Intron|SYTL2_ENST00000524452.1_Missense_Mutation_p.V552I|SYTL2_ENST00000528231.1_Intron	p.V874I	NM_206927.2	NP_996810.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	4	2631	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	538			C2 2.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.2620G>A	CCDS53688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.79|12.79	2.043446|2.043446	0.36085|0.36085	0.0|0.0	1.16E-4|1.16E-4	ENSG00000137501|ENSG00000137501	ENST00000533057|ENST00000389960;ENST00000354566;ENST00000530351;ENST00000527523;ENST00000524452	T|T;T;T;T;T	0.60299|0.36520	0.2|1.83;1.75;1.25;1.72;1.83	5.65|5.65	-1.67|-1.67	0.08238|0.08238	.|.	.|.	.|.	.|.	.|.	T|T	0.12987|0.12987	0.0315|0.0315	N|N	0.03608|0.03608	-0.345|-0.345	0.53688|0.53688	D|D	0.999972|0.999972	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.27054|0.27054	-1.0085|-1.0085	6|8	.|.	.|.	.|.	.|.	7.9469|7.9469	0.29991|0.29991	0.0:0.4363:0.1208:0.4429|0.0:0.4363:0.1208:0.4429	.|.	.|504;552;874;874	.|Q9HCH5-14;Q9HCH5-6;Q9HCH5-11;Q9HCH5-8	.|.;.;.;.	H|I	2|552;874;293;504;552	ENSP00000436164:R2H|ENSP00000374610:V552I;ENSP00000346576:V874I;ENSP00000435009:V293I;ENSP00000434010:V504I;ENSP00000435238:V552I	.|.	R|V	-|-	2|1	0|0	SYTL2|SYTL2	85106183|85106183	0.743000|0.743000	0.28239|0.28239	0.907000|0.907000	0.35723|0.35723	0.791000|0.791000	0.44710|0.44710	-0.121000|-0.121000	0.10643|0.10643	-0.913000|-0.913000	0.03832|0.03832	-2.676000|-2.676000	0.00143|0.00143	CGT|GTA		0.343	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		38	95	0	0	0	1	0	38	95				
PTGS1	5742	broad.mit.edu	37	9	125149013	125149013	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:125149013T>C	ENST00000362012.2	+	9	1301		c.e9+2		PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000540753.1_Intron|AL162424.1_ENST00000600713.1_5'Flank	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCTGGCCGGGTAAGCCCcaga	0.562																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.e9+2		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						57.0	49.0	52.0					9																	125149013		2203	4300	6503	SO:0001630	splice_region_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125149013T>C	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1296+2T>C	9.37:g.125149013T>C						PTGS1_ENST00000540753.1_Intron|PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000223423.4_Intron		NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			9	1301	+								A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Splice_Site	SNP	ENST00000362012.2	37		CCDS6842.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336752	0.60963	.	.	ENSG00000095303	ENST00000362012;ENST00000373698	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9418	0.64059	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTGS1	124188834	1.000000	0.71417	0.986000	0.45419	0.513000	0.34164	8.040000	0.89188	1.887000	0.54652	0.533000	0.62120	.		0.562	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		Intron	10	35	0	0	0	1	0	10	35				
ANO2	57101	broad.mit.edu	37	12	6030359	6030359	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:6030359G>A	ENST00000356134.5	-	3	440	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ANO2_ENST00000327087.8_Silent_p.S123S|ANO2_ENST00000546188.1_Silent_p.S123S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	127					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTCCCCATTGGAGACGATAG	0.627																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(367-369)tcC>tcT		anoctamin 2							46.0	47.0	47.0					12																	6030359		2021	4163	6184	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6030359G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.369C>T	12.37:g.6030359G>A						ANO2_ENST00000356134.5_Silent_p.S123S|ANO2_ENST00000546188.1_Silent_p.S123S	p.S123S			Q9NQ90	ANO2_HUMAN			3	440	-			127					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.369C>T																																																																																					0.627	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		12	35	0	0	0	1	0	12	35				
RYR3	6263	broad.mit.edu	37	15	33603218	33603218	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:33603218G>A	ENST00000389232.4	+	0	42				RP11-489D6.2_ENST00000561458.1_RNA|RYR3_ENST00000415757.3_De_novo_Start_OutOfFrame|RP11-489D6.2_ENST00000559457.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCGCCGGAGGCTGGGGCACC	0.692																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311								ryanodine receptor 3							10.0	16.0	14.0					15																	33603218		1984	4155	6139			6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33603218G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.-29G>A	15.37:g.33603218G>A						RYR3_ENST00000415757.3_De_novo_Start_OutOfFrame		NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	0	42	+		all_lung(180;7.18e-09)						O15175|Q15412	Translation_Start_Site	SNP	ENST00000389232.4	37		CCDS45210.1																																																																																				0.692	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	10	0	0	0	1	0	11	10				
HOXD3	3232	broad.mit.edu	37	2	177036642	177036642	+	Silent	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:177036642C>A	ENST00000468418.3	+	4	3029	c.939C>A	c.(937-939)gcC>gcA	p.A313A	HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Silent_p.A313A|HOXD3_ENST00000249440.3_Silent_p.A313A			P31249	HXD3_HUMAN	homeobox D3	313					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACGGCCTGGCCGCCTACACGG	0.692																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(937-939)gcC>gcA		homeobox D3							12.0	12.0	12.0					2																	177036642		2166	4242	6408	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036642C>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.939C>A	2.37:g.177036642C>A						HOXD3_ENST00000249440.3_Silent_p.A313A|HOXD3_ENST00000410016.1_Silent_p.A313A	p.A313A			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	3029	+			313					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.939C>A	CCDS2270.1																																																																																				0.692	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			5	24	1	0	0.014758	1	0.014915	5	24				
ZNF415	55786	broad.mit.edu	37	19	53611915	53611915	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53611915G>A	ENST00000500065.4	-	4	1716	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	ZNF415_ENST00000455735.2_Silent_p.I509I|ZNF415_ENST00000440291.1_Silent_p.I448I|ZNF415_ENST00000421033.1_Silent_p.I473I|ZNF415_ENST00000243643.4_Silent_p.I461I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.I231I|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.I509I	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTCCAGTATGGATGACCTGAT	0.438																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1525-1527)atC>atT		zinc finger protein 415							205.0	180.0	188.0					19																	53611915		2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53611915G>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1383C>T	19.37:g.53611915G>A						ZNF415_ENST00000601493.1_Silent_p.I231I|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.I473I|ZNF415_ENST00000243643.4_Silent_p.I461I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.I509I|ZNF415_ENST00000440291.1_Silent_p.I448I|ZNF415_ENST00000500065.4_Silent_p.I461I	p.I509I			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1847	-			509					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.1527C>T	CCDS54313.1																																																																																				0.438	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		63	310	0	0	0	1	0	63	310				
NAA25	80018	broad.mit.edu	37	12	112481476	112481476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:112481476C>A	ENST00000261745.4	-	18	2451	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	735						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGGGTTGCCTCCAGCTGTTGA	0.433																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(2203-2205)Gag>Tag		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							79.0	79.0	79.0					12																	112481476		2203	4300	6503	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112481476C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2203G>T	12.37:g.112481476C>A	ENSP00000261745:p.Glu735*						p.E735*	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			18	2451	-			735					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.2203G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	40	8.061792	0.98635	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.79	5.79	0.91817	.	0.171765	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-16.0736	20.0474	0.97616	0.0:1.0:0.0:0.0	.	.	.	.	X	735	.	ENSP00000261745:E735X	E	-	1	0	NAA25	110965859	1.000000	0.71417	0.946000	0.38457	0.950000	0.60333	4.507000	0.60434	2.722000	0.93159	0.655000	0.94253	GAG		0.433	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		69	107	1	0	4.83677e-39	1	5.74367e-39	69	107				
SYNE1	23345	broad.mit.edu	37	6	152757155	152757155	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:152757155G>C	ENST00000367255.5	-	33	4832	c.4231C>G	c.(4231-4233)Caa>Gaa	p.Q1411E	SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1411E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1401E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1477E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1411					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTATTTTGGGGCCCAAGC	0.403										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4231-4233)Caa>Gaa		spectrin repeat containing, nuclear envelope 1							147.0	132.0	137.0					6																	152757155		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152757155G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4231C>G	6.37:g.152757155G>C	ENSP00000356224:p.Gln1411Glu	HNSCC(10;0.0054)				SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1401E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1411E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1477E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1411E	p.Q1411E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4832	-		Ovarian(120;0.0955)	1411					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4231C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586071	0.46110	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;D;D	0.87179	1.53;1.53;1.53;1.53;0.88;1.53;-2.21;-2.22	6.07	2.33	0.28932	.	0.194461	0.35466	N	0.003199	T	0.58192	0.2105	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.17667	0.011;0.014;0.023;0.011;0.014;0.023	B;B;B;B;B;B	0.20955	0.01;0.009;0.019;0.012;0.009;0.032	T	0.56263	-0.8008	10	0.02654	T	1	.	14.0388	0.64663	0.0:0.0:0.3311:0.6689	.	1394;1411;1401;1411;1411;1418	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	E	1411;1418;1411;1418;1477;1411;1401;1411	ENSP00000356224:Q1411E;ENSP00000396024:Q1418E;ENSP00000265368:Q1411E;ENSP00000390975:Q1418E;ENSP00000341887:Q1477E;ENSP00000356222:Q1411E;ENSP00000356217:Q1401E;ENSP00000414510:Q1411E	ENSP00000265368:Q1411E	Q	-	1	0	SYNE1	152798848	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	3.607000	0.54102	0.161000	0.19458	-0.291000	0.09656	CAA		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		35	66	0	0	0	1	0	35	66				
FILIP1L	11259	broad.mit.edu	37	3	99567930	99567930	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:99567930G>A	ENST00000354552.3	-	5	3060	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624S|FILIP1L_ENST00000331335.5_Missense_Mutation_p.P864S|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440S|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624S	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	864						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCATCCAGGGAATCCATAGC	0.463																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2590-2592)Ccc>Tcc		filamin A interacting protein 1-like							147.0	137.0	140.0					3																	99567930		1920	4141	6061	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567930G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2590C>T	3.37:g.99567930G>A	ENSP00000346560:p.Pro864Ser					FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440S|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P864S|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624S	p.P864S	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3060	-			864					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2590C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682373	0.68157	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.60040	0.52;0.25;0.22;0.53;0.23;0.35	5.99	5.99	0.97316	.	0.000000	0.52532	D	0.000079	T	0.75369	0.3840	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75303	-0.3365	10	0.87932	D	0	-11.3541	20.4777	0.99188	0.0:0.0:1.0:0.0	.	864;864	Q4L180-2;Q4L180	.;FIL1L_HUMAN	S	864;440;624;864;624;610;624	ENSP00000346560:P864S;ENSP00000417774:P440S;ENSP00000419642:P624S;ENSP00000327880:P864S;ENSP00000373192:P624S;ENSP00000419874:P624S	ENSP00000327880:P864S	P	-	1	0	FILIP1L	101050620	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	6.673000	0.74482	2.840000	0.97914	0.655000	0.94253	CCC		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		50	239	0	0	0	1	0	50	239				
RGS6	9628	broad.mit.edu	37	14	73006752	73006752	+	Intron	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:73006752G>A	ENST00000553530.1	+	16	1575				RGS6_ENST00000434263.2_Missense_Mutation_p.E389K|RGS6_ENST00000404301.2_Missense_Mutation_p.E458K|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000406236.4_Missense_Mutation_p.E458K|RGS6_ENST00000407322.4_Missense_Mutation_p.E458K|RGS6_ENST00000553525.1_Missense_Mutation_p.E458K|RGS6_ENST00000343854.6_Missense_Mutation_p.E421K|RGS6_ENST00000554782.1_Missense_Mutation_p.E319K|RGS6_ENST00000402788.2_Intron|RGS6_ENST00000556437.1_Missense_Mutation_p.E458K	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCTAAAGCCAGAAAGTGAGCA	0.398																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553525.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1372-1374)Gaa>Aaa		regulator of G-protein signaling 6							21.0	22.0	22.0					14																	73006752		876	1990	2866	SO:0001627	intron_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:73006752G>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1368+3769G>A	14.37:g.73006752G>A						RGS6_ENST00000556437.1_Missense_Mutation_p.E458K|RGS6_ENST00000402788.2_Intron|RGS6_ENST00000553530.1_Intron|RGS6_ENST00000406236.4_Missense_Mutation_p.E458K|RGS6_ENST00000554782.1_Missense_Mutation_p.E319K|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000343854.6_Missense_Mutation_p.E421K|RGS6_ENST00000407322.4_Missense_Mutation_p.E458K|RGS6_ENST00000434263.2_Missense_Mutation_p.E389K|RGS6_ENST00000404301.2_Missense_Mutation_p.E458K	p.E458K	NM_001204424.1	NP_001191353.1	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	17	1895	+			456					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.1372G>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081279	0.76528	.	.	ENSG00000182732	ENST00000553525;ENST00000556437;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000343854;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T	0.30182	1.72;1.72;1.73;1.73;1.73;1.54;1.65;1.69	5.23	5.23	0.72850	.	.	.	.	.	T	0.22704	0.0548	N	0.24115	0.695	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.13407	0.009;0.001;0.002	T	0.07233	-1.0783	9	0.09843	T	0.71	-13.4605	19.3591	0.94428	0.0:0.0:1.0:0.0	.	389;458;463	B7Z7N5;P49758-2;Q59FJ8	.;.;.	K	458;458;458;458;458;421;389;319;319	ENSP00000451030:E458K;ENSP00000451855:E458K;ENSP00000385243:E458K;ENSP00000384218:E458K;ENSP00000384612:E458K;ENSP00000341199:E421K;ENSP00000412144:E389K;ENSP00000451912:E319K	ENSP00000341199:E421K	E	+	1	0	RGS6	72076505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.544000	0.98092	2.879000	0.98667	0.650000	0.86243	GAA		0.398	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			9	13	0	0	0	1	0	9	13				
SRRM3	222183	broad.mit.edu	37	7	75894094	75894094	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:75894094C>A	ENST00000326382.8	+	9	893	c.686C>A	c.(685-687)tCc>tAc	p.S229Y	SRRM3_ENST00000388802.4_Missense_Mutation_p.S229Y	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	229	Arg-rich.|Lys-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCTCGAAGCTCCAAGTGCAAA	0.572																																						ENST00000388802.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(685-687)tCc>tAc		serine/arginine repetitive matrix 3							103.0	103.0	103.0					7																	75894094		1568	3582	5150	SO:0001583	missense	222183							g.chr7:75894094C>A	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.686C>A	7.37:g.75894094C>A	ENSP00000325298:p.Ser229Tyr					SRRM3_ENST00000326382.8_Missense_Mutation_p.S229Y	p.S229Y							9	895	+								A6ND75	Missense_Mutation	SNP	ENST00000326382.8	37	c.686C>A		.	.	.	.	.	.	.	.	.	.	C	12.26	1.885947	0.33348	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02525	4.26	4.23	3.33	0.38152	.	0.276012	0.25645	N	0.029246	T	0.02047	0.0064	N	0.14661	0.345	0.20563	N	0.999882	B	0.28512	0.214	B	0.25405	0.06	T	0.44892	-0.9298	10	0.66056	D	0.02	-7.1629	8.5875	0.33666	0.0:0.8886:0.0:0.1114	.	229	A6NNA2	SRRM3_HUMAN	Y	229	ENSP00000373454:S229Y	ENSP00000325298:S229Y	S	+	2	0	SRRM3	75732030	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.356000	0.44116	1.108000	0.41662	0.555000	0.69702	TCC		0.572	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		11	74	1	0	9.05144e-12	1	1.00768e-11	11	74				
LAMA3	3909	broad.mit.edu	37	18	21451526	21451526	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:21451526G>T	ENST00000313654.9	+	38	5140	c.4899G>T	c.(4897-4899)gaG>gaT	p.E1633D	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1633D|LAMA3_ENST00000269217.6_5'Flank|LAMA3_ENST00000587184.1_5'Flank	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1633	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCCTGAGCGAGGTGGGGCTAG	0.577																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4897-4899)gaG>gaT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						62.0	71.0	68.0					18																	21451526		2051	4197	6248	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21451526G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4899G>T	18.37:g.21451526G>T	ENSP00000324532:p.Glu1633Asp					LAMA3_ENST00000399516.3_Missense_Mutation_p.E1633D	p.E1633D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			38	5140	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1633			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4899G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816509	0.50527	.	.	ENSG00000053747	ENST00000313654;ENST00000399516	T;T	0.28069	1.63;1.63	5.43	5.43	0.79202	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	.	.	.	.	T	0.30230	0.0758	N	0.22421	0.69	0.80722	D	1	P;P	0.45283	0.855;0.684	P;B	0.52793	0.709;0.322	T	0.01776	-1.1276	9	0.13108	T	0.6	.	12.8994	0.58117	0.0749:0.0:0.9251:0.0	.	1633;1633	Q6VU67;Q16787	.;LAMA3_HUMAN	D	1633	ENSP00000324532:E1633D;ENSP00000382432:E1633D	ENSP00000324532:E1633D	E	+	3	2	LAMA3	19705524	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	4.335000	0.59298	2.707000	0.92482	0.655000	0.94253	GAG		0.577	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		6	39	1	0	5.18039e-06	1	5.509e-06	6	39				
OR10J1	26476	broad.mit.edu	37	1	159410019	159410019	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:159410019G>T	ENST00000423932.3	+	1	508	c.471G>T	c.(469-471)ctG>ctT	p.L157L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	157					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACTTGTCCTGGGGGCCTGCA	0.498																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(469-471)ctG>ctT		olfactory receptor, family 10, subfamily J, member 1							139.0	132.0	134.0					1																	159410019		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410019G>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.471G>T	1.37:g.159410019G>T						RP11-550P17.5_ENST00000431862.1_RNA	p.L157L	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	508	+	all_hematologic(112;0.0429)		157					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.471G>T	CCDS1185.1																																																																																				0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		100	95	1	0	4.60726e-43	1	5.49401e-43	100	95				
SIAH2	6478	broad.mit.edu	37	3	150460311	150460311	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:150460311G>T	ENST00000312960.3	-	2	1119	c.592C>A	c.(592-594)Ctt>Att	p.L198I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	198	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTCCCTGAAGGGTGGTAATG	0.537																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(592-594)Ctt>Att		siah E3 ubiquitin protein ligase 2							127.0	115.0	119.0					3																	150460311		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460311G>T	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.592C>A	3.37:g.150460311G>T	ENSP00000322457:p.Leu198Ile						p.L198I	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1119	-			198			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.592C>A	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506402	0.85282	.	.	ENSG00000181788	ENST00000312960;ENST00000482706	T;T	0.26067	1.76;1.76	5.67	5.67	0.87782	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	L	0.55990	1.75	0.80722	D	1	B	0.31790	0.34	P	0.53450	0.726	T	0.21348	-1.0248	10	0.30854	T	0.27	.	19.7784	0.96405	0.0:0.0:1.0:0.0	.	198	O43255	SIAH2_HUMAN	I	198;72	ENSP00000322457:L198I;ENSP00000417619:L72I	ENSP00000322457:L198I	L	-	1	0	SIAH2	151943001	1.000000	0.71417	0.995000	0.50966	0.458000	0.32498	9.848000	0.99507	2.658000	0.90341	0.591000	0.81541	CTT		0.537	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		59	103	1	0	2.37032e-18	1	2.71302e-18	59	103				
LAMC1	3915	broad.mit.edu	37	1	183095268	183095268	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:183095268G>A	ENST00000258341.4	+	16	3072	c.2815G>A	c.(2815-2817)Gcc>Acc	p.A939T	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	939	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGACTGCCATGCCTTGGGCTC	0.488																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2815-2817)Gcc>Acc		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						59.0	52.0	55.0					1																	183095268		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183095268G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2815G>A	1.37:g.183095268G>A	ENSP00000258341:p.Ala939Thr					LAMC1_ENST00000466964.1_3'UTR	p.A939T	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			16	3072	+			939			Laminin EGF-like 10.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2815G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867339	0.51588	.	.	ENSG00000135862	ENST00000258341	T	0.61510	0.1	5.64	3.77	0.43336	EGF-like, laminin (3);	0.097504	0.64402	D	0.000001	T	0.37679	0.1012	N	0.20685	0.6	0.43628	D	0.996015	B	0.20550	0.046	B	0.18263	0.021	T	0.14587	-1.0467	10	0.42905	T	0.14	.	5.9022	0.18972	0.0688:0.2537:0.5464:0.1311	.	939	P11047	LAMC1_HUMAN	T	939	ENSP00000258341:A939T	ENSP00000258341:A939T	A	+	1	0	LAMC1	181361891	0.909000	0.30893	0.999000	0.59377	0.965000	0.64279	1.776000	0.38594	0.744000	0.32741	-0.150000	0.13652	GCC		0.488	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		21	50	0	0	0	1	0	21	50				
SSC4D	136853	broad.mit.edu	37	7	76021343	76021343	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:76021343C>T	ENST00000275560.3	-	10	1696	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GACTTGCAGTCCCAGCTCCTC	0.607																																						ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1348-1350)gGa>gAa		scavenger receptor cysteine rich domain containing, group B (4 domains)							45.0	33.0	37.0					7																	76021343		2200	4298	6498	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76021343C>T																												ENST00000275560.3:c.1349G>A	7.37:g.76021343C>T	ENSP00000275560:p.Gly450Glu					SRCRB4D_ENST00000492979.2_5'UTR	p.G450E	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			10	1696	-			450						Missense_Mutation	SNP	ENST00000275560.3	37	c.1349G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407318	0.25378	.	.	ENSG00000146700	ENST00000275560	T	0.39997	1.05	3.92	3.92	0.45320	Speract/scavenger receptor-related (1);	0.793648	0.11163	N	0.592839	T	0.20088	0.0483	N	0.14661	0.345	0.36114	D	0.845011	P	0.36599	0.56	B	0.28638	0.092	T	0.10941	-1.0608	10	0.02654	T	1	.	11.63	0.51168	0.0:1.0:0.0:0.0	.	450	Q8WTU2	SRB4D_HUMAN	E	450	ENSP00000275560:G450E	ENSP00000275560:G450E	G	-	2	0	SRCRB4D	75859279	0.954000	0.32549	1.000000	0.80357	0.984000	0.73092	1.941000	0.40233	2.220000	0.72140	0.491000	0.48974	GGA		0.607	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			3	12	0	0	0	1	0	3	12				
GTF2A1L	11036	broad.mit.edu	37	2	48848402	48848402	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:48848402T>G	ENST00000403751.3	+	3	257	c.220T>G	c.(220-222)Ttg>Gtg	p.L74V	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.L778V|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L40V|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L778V	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	74					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGCACAGCTTGCACCAAAC	0.403																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(2332-2334)Ttg>Gtg									81.0	81.0	81.0					2																	48848402		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48848402T>G	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.220T>G	2.37:g.48848402T>G	ENSP00000384597:p.Leu74Val					STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L778V|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.L74V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L778V|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L40V	p.L778V	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2446	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	778					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2332T>G	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515363	0.64634	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;1.06;0.93;0.93	4.69	4.69	0.59074	.	0.189007	0.36972	N	0.002311	T	0.62575	0.2439	M	0.71581	2.175	0.21290	N	0.999737	D;P;D;D;P	0.89917	0.998;0.495;0.961;1.0;0.77	D;B;P;D;B	0.87578	0.969;0.119;0.704;0.998;0.34	T	0.56836	-0.7913	10	0.59425	D	0.04	.	13.7717	0.63029	0.0:0.0:0.0:1.0	.	40;778;778;74;778	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	V	778;778;778;778;778;73;40;74;40;74	ENSP00000385499:L778V;ENSP00000385701:L778V;ENSP00000378236:L778V;ENSP00000311493:L778V;ENSP00000378234:L778V;ENSP00000412645:L40V;ENSP00000396702:L74V;ENSP00000387896:L40V;ENSP00000384597:L74V	ENSP00000384597:L74V	L	+	1	2	STON1-GTF2A1L;GTF2A1L	48701906	0.996000	0.38824	0.995000	0.50966	0.822000	0.46500	2.673000	0.46858	2.098000	0.63641	0.460000	0.39030	TTG		0.403	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		24	116	0	0	0	1	0	24	116				
GCC2	9648	broad.mit.edu	37	2	109088522	109088522	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:109088522C>T	ENST00000309863.6	+	6	3451	c.2737C>T	c.(2737-2739)Cta>Tta	p.L913L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	913					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGCCACTACTAGAACAAAA	0.289																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2737-2739)Cta>Tta		GRIP and coiled-coil domain containing 2							40.0	45.0	43.0					2																	109088522		2163	4261	6424	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109088522C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2737C>T	2.37:g.109088522C>T							p.L913L	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	3451	+			913					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.2737C>T	CCDS33268.1																																																																																				0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		47	178	0	0	0	1	0	47	178				
MCF2L2	23101	broad.mit.edu	37	3	182897937	182897937	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:182897937G>A	ENST00000328913.3	-	28	3324	c.3027C>T	c.(3025-3027)agC>agT	p.S1009S	MCF2L2_ENST00000468976.1_5'Flank|MCF2L2_ENST00000473233.1_Silent_p.S1009S	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1009							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TAAACTCCCTGCTGGAGCAGC	0.547																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3025-3027)agC>agT		MCF.2 cell line derived transforming sequence-like 2							150.0	152.0	151.0					3																	182897937		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182897937G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3027C>T	3.37:g.182897937G>A						MCF2L2_ENST00000473233.1_Silent_p.S1009S	p.S1009S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		28	3324	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		1009					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.3027C>T	CCDS3243.1																																																																																				0.547	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		54	450	0	0	0	1	0	54	450				
MCM3AP	8888	broad.mit.edu	37	21	47662744	47662744	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:47662744G>T	ENST00000397708.1	-	26	5652	c.5398C>A	c.(5398-5400)Cag>Aag	p.Q1800K	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q1800K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1800					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCTCCTTCTGCGTCTGCAAC	0.393																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5398-5400)Cag>Aag		minichromosome maintenance complex component 3 associated protein							143.0	114.0	124.0					21																	47662744		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47662744G>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5398C>A	21.37:g.47662744G>T	ENSP00000380820:p.Gln1800Lys					MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q1800K|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA	p.Q1800K			O60318	MCM3A_HUMAN			26	5652	-	Breast(49;0.112)		1800					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5398C>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412113	0.42817	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03468	3.92;3.92	5.84	4.9	0.64082	.	0.170158	0.53938	D	0.000056	T	0.02888	0.0086	N	0.20986	0.625	0.35399	D	0.791413	B;P	0.35793	0.051;0.521	B;B	0.30105	0.02;0.111	T	0.56780	-0.7922	10	0.20046	T	0.44	-24.9214	14.1184	0.65169	0.0:0.0:0.8502:0.1498	.	1800;295	O60318;B3KT88	MCM3A_HUMAN;.	K	1800;1800;295	ENSP00000380820:Q1800K;ENSP00000291688:Q1800K	ENSP00000291688:Q1800K	Q	-	1	0	MCM3AP	46487172	1.000000	0.71417	0.989000	0.46669	0.646000	0.38490	4.105000	0.57797	2.765000	0.95021	0.655000	0.94253	CAG		0.393	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		7	96	1	0	0.00198382	1	0.00202648	7	96				
KIAA0922	23240	broad.mit.edu	37	4	154557505	154557505	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:154557505C>T	ENST00000409663.3	+	35	4659	c.4607C>T	c.(4606-4608)tCc>tTc	p.S1536F	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1453F|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1537F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1536						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTTTTTGGTTCCATCTGGGCC	0.463																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4609-4611)tCc>tTc		KIAA0922							93.0	100.0	98.0					4																	154557505		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154557505C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4607C>T	4.37:g.154557505C>T	ENSP00000386574:p.Ser1536Phe					KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1453F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S1536F	p.S1537F	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			35	4659	+	all_hematologic(180;0.093)	Renal(120;0.118)	1536					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4610C>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953659	0.92660	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.41758	1.28;0.99;1.27;1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64097	-0.6487	10	0.87932	D	0	-20.1742	20.3312	0.98718	0.0:1.0:0.0:0.0	.	1453;1537;1536	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	F	1536;1453;1537;1314	ENSP00000386574:S1536F;ENSP00000409663:S1453F;ENSP00000386787:S1537F;ENSP00000240487:S1314F	ENSP00000240487:S1314F	S	+	2	0	KIAA0922	154776955	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.205000	0.77881	2.797000	0.96272	0.655000	0.94253	TCC		0.463	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		31	60	0	0	0	1	0	31	60				
TFEB	7942	broad.mit.edu	37	6	41653976	41653976	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:41653976C>G	ENST00000230323.4	-	9	1105		c.e9-1		AL035588.1_ENST00000597468.1_Missense_Mutation_p.L5V|TFEB_ENST00000358871.2_Splice_Site|TFEB_ENST00000403298.4_Splice_Site|TFEB_ENST00000420312.1_Splice_Site|TFEB_ENST00000373033.1_Splice_Site	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB						autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCGCACGTCCCTGCAGCAGCA	0.562			T	ALPHA	renal (childhood epithelioid)																																	ENST00000597468.1				Dom	yes		6	6p21	7942		transcription factor EB			"""E,M"""					0											c.(13-15)Ctg>Gtg									84.0	78.0	80.0					6																	41653976		2203	4300	6503	SO:0001630	splice_region_variant	7942							g.chr6:41653976C>G	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.804-1G>C	6.37:g.41653976C>G						TFEB_ENST00000420312.1_Splice_Site|TFEB_ENST00000373033.1_Splice_Site|TFEB_ENST00000358871.2_Splice_Site|TFEB_ENST00000403298.4_Splice_Site|TFEB_ENST00000230323.4_Splice_Site	p.L5V							1	13	+								Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.13C>G	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500458	0.64298	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033	.	.	.	5.06	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4009	0.60883	0.0:0.9218:0.0:0.0782	.	.	.	.	.	-1	.	.	.	-	.	.	TFEB	41761954	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	6.082000	0.71318	2.355000	0.79922	0.655000	0.94253	.		0.562	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3		Intron	31	35	0	0	0	1	0	31	35				
CCDC86	79080	broad.mit.edu	37	11	60609627	60609627	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:60609627G>T	ENST00000227520.5	+	1	84	c.30G>T	c.(28-30)cgG>cgT	p.R10R	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	10					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCAGCCGACGGCTGGGAGGCC	0.642																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(28-30)cgG>cgT		coiled-coil domain containing 86							15.0	16.0	15.0					11																	60609627		2187	4274	6461	SO:0001819	synonymous_variant	79080				interspecies interaction between organisms	nucleus		g.chr11:60609627G>T	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.30G>T	11.37:g.60609627G>T						RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	p.R10R	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			1	84	+			10					B4DY99	Silent	SNP	ENST00000227520.5	37	c.30G>T	CCDS7993.1																																																																																				0.642	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		5	12	1	0	1	1	1	5	12				
TMEM200A	114801	broad.mit.edu	37	6	130762696	130762696	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:130762696G>C	ENST00000296978.3	+	3	2000	c.1129G>C	c.(1129-1131)Gct>Cct	p.A377P	TMEM200A_ENST00000392429.1_Missense_Mutation_p.A377P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.A377P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	377						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCTCCTGGGGCTGCCAGAAG	0.517																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1129-1131)Gct>Cct		transmembrane protein 200A							74.0	75.0	75.0					6																	130762696		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762696G>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1129G>C	6.37:g.130762696G>C	ENSP00000296978:p.Ala377Pro					TMEM200A_ENST00000296978.3_Missense_Mutation_p.A377P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.A377P	p.A377P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3507	+			377					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1129G>C	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602265	0.66445	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	6.07	5.2	0.72013	.	0.161598	0.53938	D	0.000046	T	0.29850	0.0746	N	0.14661	0.345	0.80722	D	1	P	0.38223	0.623	P	0.44477	0.451	T	0.08932	-1.0698	9	0.27785	T	0.31	-12.882	14.8195	0.70062	0.0683:0.0:0.9317:0.0	.	377	Q86VY9	T200A_HUMAN	P	377	.	ENSP00000296978:A377P	A	+	1	0	TMEM200A	130804389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.739000	0.74827	2.885000	0.99019	0.655000	0.94253	GCT		0.517	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		24	53	0	0	0	1	0	24	53				
BNC2	54796	broad.mit.edu	37	9	16435982	16435982	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:16435982G>C	ENST00000380672.4	-	6	2267	c.2210C>G	c.(2209-2211)tCc>tGc	p.S737C	BNC2_ENST00000380667.2_Missense_Mutation_p.S670C|BNC2_ENST00000545497.1_Missense_Mutation_p.S642C|BNC2_ENST00000380666.2_Missense_Mutation_p.S737C	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCCTTCCATGGATTCCTCGCC	0.522																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2209-2211)tCc>tGc		basonuclin 2							103.0	89.0	94.0					9																	16435982		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435982G>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2210C>G	9.37:g.16435982G>C	ENSP00000370047:p.Ser737Cys					BNC2_ENST00000380666.2_Missense_Mutation_p.S737C|BNC2_ENST00000545497.1_Missense_Mutation_p.S642C|BNC2_ENST00000380667.2_Missense_Mutation_p.S670C	p.S737C	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2267	-			737						Missense_Mutation	SNP	ENST00000380672.4	37	c.2210C>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298542	0.40694	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.47528	1.44;0.84;1.44;1.46;1.46;1.43	5.56	5.56	0.83823	.	0.122922	0.64402	D	0.000018	T	0.40423	0.1116	L	0.27053	0.805	0.41002	D	0.984938	B;B;B;B;B;B;B;B;B	0.09022	0.001;0.001;0.002;0.002;0.002;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.002;0.001;0.001;0.001;0.001	T	0.19976	-1.0289	10	0.52906	T	0.07	-15.5686	19.5353	0.95251	0.0:0.0:1.0:0.0	.	642;670;737;563;737;694;737;642;502	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	C	737;130;694;670;642;563;737;737	ENSP00000370047:S737C;ENSP00000392212:S130C;ENSP00000408370:S694C;ENSP00000370042:S670C;ENSP00000444640:S642C;ENSP00000370041:S737C	ENSP00000370041:S737C	S	-	2	0	BNC2	16425982	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.552000	0.73914	2.618000	0.88619	0.650000	0.86243	TCC		0.522	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		5	74	0	0	0	1	0	5	74				
USP29	57663	broad.mit.edu	37	19	57641825	57641825	+	Silent	SNP	C	C	A	rs35663514		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:57641825C>A	ENST00000254181.4	+	4	2236	c.1782C>A	c.(1780-1782)ccC>ccA	p.P594P	USP29_ENST00000598197.1_Silent_p.P594P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	594	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTTCTACCCGTTGAACCAG	0.488																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1780-1782)ccC>ccA		ubiquitin specific peptidase 29							68.0	68.0	68.0					19																	57641825		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641825C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1782C>A	19.37:g.57641825C>A						USP29_ENST00000598197.1_Silent_p.P594P	p.P594P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2236	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	594						Silent	SNP	ENST00000254181.4	37	c.1782C>A	CCDS33124.1																																																																																				0.488	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			37	83	1	0	1.57351e-24	1	1.83041e-24	37	83				
NLRC3	197358	broad.mit.edu	37	16	3613383	3613383	+	RNA	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:3613383C>T	ENST00000301749.7	-	0	1960				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACAAGAGGCCGGAGAGGAAG	0.692																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							8.0	10.0	9.0					16																	3613383		2098	4204	6302			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613383C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613383C>T						NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1960	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	21.2	4.108271	0.77096	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.09	4.14	0.48551	.	0.057579	0.64402	N	0.000001	D	0.93693	0.7985	.	.	.	0.33546	D	0.595519	P	0.41420	0.749	P	0.57620	0.824	D	0.96120	0.9084	9	0.87932	D	0	.	11.0941	0.48134	0.0:0.9095:0.0:0.0905	.	566	C9JLH9	.	S	519;519;519;566;501	ENSP00000301749:G519S;ENSP00000352039:G519S;ENSP00000414415:G566S;ENSP00000323897:G501S	ENSP00000301749:G519S	G	-	1	0	NLRC3	3553384	1.000000	0.71417	0.725000	0.30721	0.938000	0.57974	5.968000	0.70413	1.135000	0.42183	0.655000	0.94253	GGC		0.692	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		6	2	0	0	0	1	0	6	2				
TRIM42	287015	broad.mit.edu	37	3	140401413	140401413	+	Silent	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:140401413C>A	ENST00000286349.3	+	2	642	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	151						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R151R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATGTGCAGCCGGCTGCGCCT	0.592																																						ENST00000286349.3																			1	Substitution - coding silent(1)	p.R151R(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(451-453)Cgg>Agg		tripartite motif containing 42							108.0	103.0	105.0					3																	140401413		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401413C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.451C>A	3.37:g.140401413C>A							p.R151R	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	642	+			151					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.451C>A	CCDS3113.1																																																																																				0.592	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	153	1	0	8.12818e-05	1	8.39323e-05	6	153				
ZCRB1	85437	broad.mit.edu	37	12	42707675	42707675	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:42707675C>G	ENST00000266529.3	-	6	630		c.e6+1		ZCRB1_ENST00000552673.1_Splice_Site|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		AATATACATACATTTCTTCTT	0.323																																						ENST00000266529.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8						c.e6+1		zinc finger CCHC-type and RNA binding motif 1							67.0	65.0	66.0					12																	42707675		2203	4300	6503	SO:0001630	splice_region_variant	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42707675C>G	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.446+1G>C	12.37:g.42707675C>G						PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Splice_Site		NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	6	630	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)						Q6PJX0|Q96TA6	Splice_Site	SNP	ENST00000266529.3	37		CCDS8740.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663627	0.88251	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCRB1	40993942	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.381000	0.66208	2.773000	0.95371	0.655000	0.94253	.		0.323	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114	Intron	26	40	0	0	0	1	0	26	40				
ELOVL2	54898	broad.mit.edu	37	6	10984106	10984106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:10984106G>A	ENST00000354666.3	-	8	882	c.799C>T	c.(799-801)Caa>Taa	p.Q267*		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	267					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GGTGGCTCTTGCATATCTTTC	0.353																																						ENST00000354666.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(799-801)Caa>Taa		ELOVL fatty acid elongase 2							176.0	158.0	164.0					6																	10984106		2202	4300	6502	SO:0001587	stop_gained	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10984106G>A	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.799C>T	6.37:g.10984106G>A	ENSP00000346693:p.Gln267*						p.Q267*	NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		8	882	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	267					Q6P9E1|Q86W94	Nonsense_Mutation	SNP	ENST00000354666.3	37	c.799C>T	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918958	0.92249	.	.	ENSG00000197977	ENST00000354666	.	.	.	5.2	1.85	0.25348	.	5.285310	0.00357	N	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	5.3105	4.6611	0.12643	0.0:0.2196:0.3602:0.4202	.	.	.	.	X	267	.	ENSP00000346693:Q267X	Q	-	1	0	ELOVL2	11092092	0.023000	0.18921	0.001000	0.08648	0.696000	0.40369	1.113000	0.31184	0.658000	0.30925	0.650000	0.86243	CAA		0.353	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			14	73	0	0	0	1	0	14	73				
RNMT	8731	broad.mit.edu	37	18	13737060	13737060	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:13737060T>G	ENST00000383314.2	+	5	845	c.605T>G	c.(604-606)tTg>tGg	p.L202W	RNMT_ENST00000543302.2_Missense_Mutation_p.L202W|RNMT_ENST00000592764.1_Missense_Mutation_p.L202W|RNMT_ENST00000262173.3_Missense_Mutation_p.L202W|RNMT_ENST00000589866.1_Missense_Mutation_p.L202W|RNMT_ENST00000535051.1_5'UTR			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	202	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATCACTGTTTTGGACCTGGGA	0.343																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(604-606)tTg>tGg		RNA (guanine-7-) methyltransferase							130.0	131.0	130.0					18																	13737060		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13737060T>G	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.605T>G	18.37:g.13737060T>G	ENSP00000372804:p.Leu202Trp					RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000592764.1_Missense_Mutation_p.L202W|RNMT_ENST00000543302.2_Missense_Mutation_p.L202W|RNMT_ENST00000262173.3_Missense_Mutation_p.L202W|RNMT_ENST00000589866.1_Missense_Mutation_p.L202W	p.L202W			O43148	MCES_HUMAN			5	845	+			202					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.605T>G	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274439	0.80580	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.62	4.43	0.53597	.	0.064380	0.64402	N	0.000005	D	0.85762	0.5772	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88473	0.3063	9	0.87932	D	0	-16.9157	12.656	0.56788	0.0:0.0:0.1382:0.8618	.	202;202	O43148-2;O43148	.;MCES_HUMAN	W	202;202;24;202	.	ENSP00000262173:L202W	L	+	2	0	RNMT	13727060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.422000	0.80217	0.918000	0.36919	0.528000	0.53228	TTG		0.343	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		34	92	0	0	0	1	0	34	92				
ZNF804B	219578	broad.mit.edu	37	7	88963958	88963958	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:88963958G>A	ENST00000333190.4	+	4	2271	c.1662G>A	c.(1660-1662)ttG>ttA	p.L554L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	554							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATATAATTTGGACTACAGTG	0.348										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1660-1662)ttG>ttA		zinc finger protein 804B							42.0	44.0	43.0					7																	88963958		2199	4295	6494	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963958G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1662G>A	7.37:g.88963958G>A		HNSCC(36;0.09)					p.L554L	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2271	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		554					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1662G>A	CCDS5613.1																																																																																				0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		35	104	0	0	0	1	0	35	104				
LIFR	3977	broad.mit.edu	37	5	38506107	38506107	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:38506107A>G	ENST00000263409.4	-	9	1353	c.1191T>C	c.(1189-1191)ttT>ttC	p.F397F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.F397F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	397	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAAGCATTTGAAATAATAATT	0.274			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1189-1191)ttT>ttC		leukemia inhibitory factor receptor alpha							62.0	68.0	66.0					5																	38506107		2203	4289	6492	SO:0001819	synonymous_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38506107A>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1191T>C	5.37:g.38506107A>G						LIFR_ENST00000453190.2_Silent_p.F397F|LIFR_ENST00000503088.1_5'UTR	p.F397F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			9	1353	-	all_lung(31;0.00021)		397			Fibronectin type-III 2.		Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.1191T>C	CCDS3927.1																																																																																				0.274	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		10	275	0	0	0	1	0	10	275				
PSMF1	9491	broad.mit.edu	37	20	1145041	1145041	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:1145041C>T	ENST00000335877.6	+	6	861	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	PSMF1_ENST00000381898.4_Missense_Mutation_p.P141S|PSMF1_ENST00000333082.3_Missense_Mutation_p.P229S|PSMF1_ENST00000246015.4_Missense_Mutation_p.P229S|PSMF1_ENST00000438768.2_Missense_Mutation_p.P167S|PSMF1_ENST00000484891.1_3'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	229	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CTCAGGCCTCCCGAACCGACT	0.582																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(685-687)Ccg>Tcg		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)							164.0	175.0	171.0					20																	1145041		2203	4300	6503	SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1145041C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.685C>T	20.37:g.1145041C>T	ENSP00000338039:p.Pro229Ser					PSMF1_ENST00000246015.4_Missense_Mutation_p.P229S|PSMF1_ENST00000381898.4_Missense_Mutation_p.P141S|PSMF1_ENST00000438768.2_Missense_Mutation_p.P167S|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.P229S	p.P229S	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			6	861	+			229			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.685C>T	CCDS13010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.964066|4.964066	0.92791|0.92791	.|.	.|.	ENSG00000125818|ENSG00000125818	ENST00000435720|ENST00000333082;ENST00000381898;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768	.|T;T;T;T;T	.|0.67698	.|1.02;-0.28;1.0;1.02;-0.28	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79598|0.79598	0.4473|0.4473	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;0.999;0.999;1.0;1.0	T|T	0.74902|0.74902	-0.3506|-0.3506	6|10	.|0.32370	.|T	.|0.25	-9.3315|-9.3315	18.4322|18.4322	0.90630|0.90630	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|167;141;141;229;229	.|E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.|.;.;.;.;PSMF1_HUMAN	L|S	70|229;141;123;229;229;167	.|ENSP00000327704:P229S;ENSP00000371323:P141S;ENSP00000246015:P229S;ENSP00000338039:P229S;ENSP00000401404:P167S	.|ENSP00000246015:P229S	P|P	+|+	2|1	0|0	PSMF1|PSMF1	1093041|1093041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	6.667000|6.667000	0.74451|0.74451	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.582	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		68	451	0	0	0	1	0	68	451				
DNM1P47	100216544	broad.mit.edu	37	15	102294715	102294715	+	RNA	SNP	C	C	T	rs377395363		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:102294715C>T	ENST00000561463.1	+	0	2761									DNM1 pseudogene 47																		AGCAGGCAGACCAAGGAGTTC	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102294715C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294715C>T														0	2761	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	38	0	0	0	1	0	5	38				
SPATA31D5P	347127	broad.mit.edu	37	9	84531027	84531027	+	RNA	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:84531027A>T	ENST00000527857.1	+	0	1049					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GTTCTGGTGGATCATCCACAT	0.478																																						ENST00000527857.1																			0																																																			347127							g.chr9:84531027A>T			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531027A>T								NR_026851.1						0	1049	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.478	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	6	0	0	0	1	0	4	6				
DENND1B	163486	broad.mit.edu	37	1	197643257	197643257	+	Missense_Mutation	SNP	C	C	T	rs201455013		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:197643257C>T	ENST00000367396.3	-	4	338	c.169G>A	c.(169-171)Gtt>Att	p.V57I	DENND1B_ENST00000400967.2_Missense_Mutation_p.V47I|DENND1B_ENST00000235453.4_Missense_Mutation_p.V47I	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	57	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TACCTTTCAACGTCAAAGGGA	0.264													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16334	0.0		0.0	False		,,,				2504	0.0					ENST00000235453.4																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(139-141)Gtt>Att		DENN/MADD domain containing 1B							36.0	35.0	35.0					1																	197643257		1790	4047	5837	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197643257C>T	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.169G>A	1.37:g.197643257C>T	ENSP00000356366:p.Val57Ile					DENND1B_ENST00000367396.3_Missense_Mutation_p.V57I|DENND1B_ENST00000400967.2_Missense_Mutation_p.V47I	p.V47I			Q6P3S1	DEN1B_HUMAN			5	416	-			57			UDENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.139G>A	CCDS41452.2	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	C	11.11	1.543571	0.27563	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967;ENST00000422998	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.03	-0.386	0.12466	uDENN (3);	0.282354	0.27060	N	0.021122	T	0.23014	0.0556	N	0.20766	0.605	0.32862	D	0.50806	B;B;B	0.13145	0.002;0.007;0.001	B;B;B	0.15484	0.005;0.013;0.001	T	0.28713	-1.0035	10	0.16420	T	0.52	-8.7504	10.7756	0.46348	0.0:0.3304:0.0:0.6696	.	57;57;47	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	I	57;57;47;57;47;21	ENSP00000235453:V47I;ENSP00000356366:V57I;ENSP00000383751:V47I;ENSP00000410025:V21I	ENSP00000235453:V47I	V	-	1	0	DENND1B	195909880	0.701000	0.27806	0.998000	0.56505	0.996000	0.88848	-0.144000	0.10280	0.022000	0.15160	0.655000	0.94253	GTT		0.264	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		18	16	0	0	0	1	0	18	16				
ZNF331	55422	broad.mit.edu	37	19	54081126	54081126	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54081126T>A	ENST00000253144.9	+	7	2645	c.1312T>A	c.(1312-1314)Tcc>Acc	p.S438T	ZNF331_ENST00000449416.1_Missense_Mutation_p.S438T|ZNF331_ENST00000513999.1_Missense_Mutation_p.S438T|ZNF331_ENST00000511154.1_Missense_Mutation_p.S438T|ZNF331_ENST00000511593.2_Missense_Mutation_p.S438T|ZNF331_ENST00000512387.1_Missense_Mutation_p.S438T|ZNF331_ENST00000411977.2_Missense_Mutation_p.S438T	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGGGCGAAATCCTACGAATG	0.488			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(1312-1314)Tcc>Acc		zinc finger protein 331							80.0	67.0	71.0					19																	54081126		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54081126T>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1312T>A	19.37:g.54081126T>A	ENSP00000253144:p.Ser438Thr					ZNF331_ENST00000511154.1_Missense_Mutation_p.S438T|ZNF331_ENST00000411977.2_Missense_Mutation_p.S438T|ZNF331_ENST00000512387.1_Missense_Mutation_p.S438T|ZNF331_ENST00000449416.1_Missense_Mutation_p.S438T|ZNF331_ENST00000513999.1_Missense_Mutation_p.S438T|ZNF331_ENST00000511593.2_Missense_Mutation_p.S438T	p.S438T	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2645	+			438					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1312T>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854930	0.32791	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	3.58	-0.18	0.13295	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.859914	0.09463	N	0.798741	T	0.10252	0.0251	N	0.17922	0.545	0.09310	N	1	B	0.17465	0.022	B	0.20767	0.031	T	0.35649	-0.9780	10	0.87932	D	0	.	4.1913	0.10422	0.0:0.5414:0.1916:0.267	.	438	Q9NQX6	ZN331_HUMAN	T	438	ENSP00000253144:S438T;ENSP00000427439:S438T;ENSP00000393817:S438T;ENSP00000393336:S438T;ENSP00000421014:S438T;ENSP00000423156:S438T;ENSP00000421728:S438T	ENSP00000253144:S438T	S	+	1	0	ZNF331	58772938	0.005000	0.15991	0.000000	0.03702	0.031000	0.12232	1.120000	0.31271	-0.068000	0.12953	0.533000	0.62120	TCC		0.488	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		18	32	0	0	0	1	0	18	32				
PLXNA4	91584	broad.mit.edu	37	7	131830041	131830041	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:131830041G>T	ENST00000359827.3	-	29	6024	c.5062C>A	c.(5062-5064)Ctg>Atg	p.L1688M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688M			Q9HCM2	PLXA4_HUMAN	plexin A4	1688					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACTTCTGCAGTGTGCCCTGG	0.547																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5062-5064)Ctg>Atg		plexin A4							83.0	80.0	81.0					7																	131830041		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131830041G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5062C>A	7.37:g.131830041G>T	ENSP00000352882:p.Leu1688Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688M	p.L1688M			Q9HCM2	PLXA4_HUMAN			29	6024	-			1688					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5062C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408370	0.62399	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.49139	0.79;0.79	5.05	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.71169	0.3308	M	0.91561	3.22	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.74375	-0.3686	10	0.87932	D	0	.	7.9052	0.29757	0.2526:0.0:0.7474:0.0	.	1688	Q9HCM2	PLXA4_HUMAN	M	1688	ENSP00000323194:L1688M;ENSP00000352882:L1688M	ENSP00000323194:L1688M	L	-	1	2	PLXNA4	131480581	0.988000	0.35896	0.999000	0.59377	0.986000	0.74619	2.088000	0.41663	1.117000	0.41842	0.561000	0.74099	CTG		0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		30	60	1	0	3.99451e-17	1	4.5356e-17	30	60				
DCAF8L1	139425	broad.mit.edu	37	X	27997958	27997958	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:27997958G>T	ENST00000441525.1	-	1	1608	c.1494C>A	c.(1492-1494)acC>acA	p.T498T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	498										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTAGGCCACTGGTCGCCAACA	0.493																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1492-1494)acC>acA		DDB1 and CUL4 associated factor 8-like 1							89.0	81.0	84.0					X																	27997958		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27997958G>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1494C>A	X.37:g.27997958G>T							p.T498T	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1608	-			498					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1494C>A	CCDS35222.1																																																																																				0.493	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		11	24	1	0	0.00829132	1	0.00840934	11	24				
PLEKHS1	79949	broad.mit.edu	37	10	115534704	115534704	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:115534704G>T	ENST00000369310.3	+	9	1443	c.881G>T	c.(880-882)tGt>tTt	p.C294F	PLEKHS1_ENST00000354462.3_Missense_Mutation_p.C44F|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.C212F|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.C300F|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.C114F	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	294																	ATTGATTGGTGTCTTTCCCCT	0.498																																						ENST00000354462.3																			0											c.(130-132)tGt>tTt		pleckstrin homology domain containing, family S member 1							96.0	83.0	87.0					10																	115534704		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115534704G>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.881G>T	10.37:g.115534704G>T	ENSP00000358316:p.Cys294Phe					PLEKHS1_ENST00000369309.1_Missense_Mutation_p.C114F|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.C300F|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.C212F|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.C294F	p.C44F							3	289	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.131G>T	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	3.284	-0.146416	0.06627	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.49	0.463	0.16700	.	0.760293	0.13315	N	0.397144	T	0.24160	0.0585	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.46457	0.878;0.822;0.85;0.878	B;B;B;B	0.42112	0.303;0.339;0.222;0.376	T	0.16512	-1.0400	10	0.17369	T	0.5	-0.6486	7.4729	0.27359	0.445:0.0:0.555:0.0	.	294;294;294;300	Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	CJ081_HUMAN;.;.;.	F	300;212;294;114;44	ENSP00000354332:C300F;ENSP00000358318:C212F;ENSP00000358316:C294F;ENSP00000358315:C114F;ENSP00000346451:C44F	ENSP00000346451:C44F	C	+	2	0	C10orf81	115524694	0.000000	0.05858	0.008000	0.14137	0.035000	0.12851	0.079000	0.14782	0.303000	0.22785	0.591000	0.81541	TGT		0.498	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		14	76	1	0	6.31663e-08	1	6.87114e-08	14	76				
RUNDC3B	154661	broad.mit.edu	37	7	87399965	87399965	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:87399965C>T	ENST00000338056.3	+	8	1160	c.749C>T	c.(748-750)aCt>aTt	p.T250I	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T233I|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T233I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	250										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAAAGCAGTACTCCAGAGAAT	0.413																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(748-750)aCt>aTt		RUN domain containing 3B							78.0	64.0	69.0					7																	87399965		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87399965C>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.749C>T	7.37:g.87399965C>T	ENSP00000337732:p.Thr250Ile					RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T233I|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T233I	p.T250I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			8	1160	+	Esophageal squamous(14;0.00164)		250					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.749C>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528730	0.64860	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.41065	1.01;1.01;1.01	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	L	0.40543	1.245	0.80722	D	1	D;D;D;D;B	0.76494	0.999;0.999;0.986;0.998;0.093	D;D;P;D;B	0.78314	0.991;0.991;0.886;0.943;0.05	T	0.51356	-0.8716	10	0.36615	T	0.2	-17.231	19.8077	0.96536	0.0:1.0:0.0:0.0	.	233;233;155;233;250	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	I	250;233;233	ENSP00000337732:T250I;ENSP00000420394:T233I;ENSP00000378149:T233I	ENSP00000337732:T250I	T	+	2	0	RUNDC3B	87237901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.322000	0.79097	2.661000	0.90470	0.650000	0.86243	ACT		0.413	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		24	34	0	0	0	1	0	24	34				
PRAMEF36P	645354	broad.mit.edu	37	1	13164130	13164131	+	RNA	INS	-	-	A	rs55911217		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:13164130_13164131insA	ENST00000434606.1	-	0	284																											TTTACTGTAACAAAAAAAAAAG	0.515																																						ENST00000434606.1																			0																																																			0							g.chr1:13164130_13164131insA																													1.37:g.13164140_13164140dupA														0	284	-									RNA	INS	ENST00000434606.1	37																																																																																						0.515	RP13-221M14.3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000331157.1			4	9						4	9	---	---	---	---
GLB1	2720	broad.mit.edu	37	3	33118660	33118660	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:33118660delT	ENST00000445488.2	-	2	205	c.145delA	c.(145-147)agafs	p.R49fs	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron			P16278	BGAL_HUMAN	galactosidase, beta 1	0			R -> C (in GM1G1). {ECO:0000269|PubMed:1909089}.|R -> H (in GM1G3). {ECO:0000269|PubMed:15986423}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTGGTACCTCTTTTGTGAAGC	0.488																																						ENST00000445488.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(145-147)gafs		galactosidase, beta 1																																				SO:0001589	frameshift_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33118660delT	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000445488.2:c.145delA	3.37:g.33118660delT	ENSP00000393377:p.Arg49fs					GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron	p.R49fs			P16278	BGAL_HUMAN			2	205	-		Melanoma(143;0.104)	25		R -> C (in GM1G1).|R -> H (in GM1G3).			B2R7H8|B7Z6B0|P16279	Frame_Shift_Del	DEL	ENST00000445488.2	37	c.145delA																																																																																					0.488	GLB1-201	KNOWN	basic	protein_coding	protein_coding		NM_000404		2	4						2	4	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115749064	115749064	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:115749064delG	ENST00000264363.2	-	14	3205	c.2527delC	c.(2527-2529)cgafs	p.R843fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	843	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTATGATCTCGGTAGTAATTA	0.408																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2527-2529)gafs		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							97.0	94.0	95.0					4																	115749064		2203	4300	6503	SO:0001589	frameshift_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115749064delG	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2527delC	4.37:g.115749064delG	ENSP00000264363:p.Arg843fs						p.R843fs	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	14	3205	-		Ovarian(17;0.156)	843			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Frame_Shift_Del	DEL	ENST00000264363.2	37	c.2527delC	CCDS3706.1																																																																																				0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		36	51						36	51	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-	rs561786759|rs369060686|rs200684951		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		7	90						7	90	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40843385	40843406	+	Frame_Shift_Del	DEL	CACTTGGATTTGGAAACCTCTG	CACTTGGATTTGGAAACCTCTG	-	rs373278813		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40843385_40843406delCACTTGGATTTGGAAACCTCTG	ENST00000254691.5	+	2	614_635	c.415_436delCACTTGGATTTGGAAACCTCTG	c.(415-438)cacttggatttggaaacctctgagfs	p.HLDLETSE139fs	CARD6_ENST00000381677.3_Frame_Shift_Del_p.HLDLETSE139fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	139					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAGAAGGAACACTTGGATTTGGAAACCTCTGAGTTTTTCAG	0.414																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(415-438)agfs		caspase recruitment domain family, member 6																																				SO:0001589	frameshift_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843385_40843406delCACTTGGATTTGGAAACCTCTG	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.415_436delCACTTGGATTTGGAAACCTCTG	5.37:g.40843385_40843406delCACTTGGATTTGGAAACCTCTG	ENSP00000254691:p.His139fs					CARD6_ENST00000381677.3_Frame_Shift_Del_p.HLDLETSE139fs	p.HLDLETSE139fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			2	614_635	+			139					Q52LR2	Frame_Shift_Del	DEL	ENST00000254691.5	37	c.415_436delCACTTGGATTTGGAAACCTCTG	CCDS3935.1																																																																																				0.414	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			17	148						17	148	---	---	---	---
RPL10AP3	137107	broad.mit.edu	37	8	34180668	34180668	+	lincRNA	DEL	C	C	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:34180668delC	ENST00000522460.1	+	0	282																											ACAGCCACAGCCAGAGGTAAC	0.453																																						ENST00000522460.1																			0																																																			137107							g.chr8:34180668delC																													8.37:g.34180668delC														0	282	+									RNA	DEL	ENST00000522460.1	37																																																																																						0.453	RP1-84O15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000376665.1			8	14						8	14	---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64943050	64943050	+	IGR	DEL	T	T	-	rs185303412		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:64943050delT	ENST00000377185.2	+	0	991				AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						gcccggctaattttttttttg	0.522																																						ENST00000534819.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr11:64943050delT	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611		11.37:g.64943050delT														0	891	-									RNA	DEL	ENST00000377185.2	37		CCDS31606.1																																																																																				0.522	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		2	4						2	4	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117049982	117049982	+	Start_Codon_Del	DEL	G	G	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:117049982delG	ENST00000324225.4	+	0	534				SIDT2_ENST00000431081.2_Start_Codon_Del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2						cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCGGGGCCATGTTCGCTCTGG	0.697																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36								SID1 transmembrane family, member 2							54.0	49.0	50.0					11																	117049982		2201	4296	6497	SO:0001582	initiator_codon_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117049982delG	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065		11.37:g.117049982delG						SIDT2_ENST00000431081.2_Start_Codon_Del		NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	0	534	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q8NBY7|Q9Y357	Translation_Start_Site	DEL	ENST00000324225.4	37		CCDS31682.1																																																																																				0.697	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		15	47						15	47	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900938	123900938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:123900938delA	ENST00000431524.1	+	1	642	c.609delA	c.(607-609)ggafs	p.G203fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGACTGTTGGAATAGTGGCCT	0.537																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(607-609)ggfs		olfactory receptor, family 10, subfamily G, member 8							204.0	179.0	188.0					11																	123900938		2201	4299	6500	SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900938delA	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.609delA	11.37:g.123900938delA	ENSP00000389072:p.Gly203fs						p.G203fs	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	642	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	203					B2RNJ3|Q6IEV2	Frame_Shift_Del	DEL	ENST00000431524.1	37	c.609delA	CCDS31704.1																																																																																				0.537	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		38	121						38	121	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52995193	52995193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:52995193delC	ENST00000537672.2	-	1	54	c.44delG	c.(43-45)ggcfs	p.G15fs	KRT72_ENST00000293745.2_Frame_Shift_Del_p.G15fs|KRT72_ENST00000354310.4_Frame_Shift_Del_p.G15fs|KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	15	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACCGCTGAAGCCCAGGCGCTC	0.701																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(43-45)gcfs		keratin 72							3.0	4.0	4.0					12																	52995193		1908	3747	5655	SO:0001589	frameshift_variant	140807					keratin filament	structural molecule activity	g.chr12:52995193delC	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.44delG	12.37:g.52995193delC	ENSP00000441160:p.Gly15fs					KRT72_ENST00000354310.4_Frame_Shift_Del_p.G15fs|KRT72_ENST00000537672.2_Frame_Shift_Del_p.G15fs|KRT72_ENST00000398066.3_5'UTR	p.G15fs	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	1	129	-			15			Gly-rich.|Head.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Frame_Shift_Del	DEL	ENST00000537672.2	37	c.44delG	CCDS8833.1																																																																																				0.701	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		2	4						2	4	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54843564	54843565	+	IGR	INS	-	-	C	rs556721604|rs535654307|rs35566239|rs5828583	byFrequency	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54843564_54843565insC	ENST00000291759.4	-	0	1944				AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CGGCTGCTCCTCCCCAGGCTGC	0.723													?|CCCC|CCCCC|unsure	2000	0.399361	0.1437	0.3905	5008	,	,		12788	0.5903		0.4394	False		,,,				2504	0.5133					ENST00000507363.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:54843564_54843565insC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355		19.37:g.54843568_54843568dupC														0	430	-								Q32MC4	RNA	INS	ENST00000291759.4	37		CCDS12890.1																																																																																				0.723	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		3	3						3	3	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		8	219						8	219	---	---	---	---
