#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
KCNA10	3744	broad.mit.edu	37	1	111059964	111059964	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr1:111059964T>G	ENST00000369771.2	-	1	1833	c.1446A>C	c.(1444-1446)agA>agC	p.R482S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	482					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGTTGAGGATTCTTTCAATTT	0.463																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1444-1446)agA>agC		potassium voltage-gated channel, shaker-related subfamily, member 10							194.0	178.0	183.0					1																	111059964		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111059964T>G	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1446A>C	1.37:g.111059964T>G	ENSP00000358786:p.Arg482Ser						p.R482S	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1833	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	482						Missense_Mutation	SNP	ENST00000369771.2	37	c.1446A>C	CCDS826.1	.	.	.	.	.	.	.	.	.	.	T	1.168	-0.641818	0.03531	.	.	ENSG00000143105	ENST00000369771	D	0.96940	-4.18	5.65	-2.01	0.07410	.	1.173350	0.06216	N	0.685910	D	0.83617	0.5293	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.73867	-0.3847	10	0.25751	T	0.34	.	12.4326	0.55583	0.0:0.5658:0.0:0.4342	.	482	Q16322	KCA10_HUMAN	S	482	ENSP00000358786:R482S	ENSP00000358786:R482S	R	-	3	2	KCNA10	110861487	0.514000	0.26202	0.162000	0.22713	0.058000	0.15608	0.167000	0.16602	-0.371000	0.08004	0.379000	0.24179	AGA		0.463	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		7	184	0	0	0	0.278610	0	7	184				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			643253							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	50	1	0	0.115264	0.115264	0.126564	3	50				
DSP	1832	broad.mit.edu	37	6	7570788	7570788	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr6:7570788A>G	ENST00000379802.3	+	13	2034	c.1693A>G	c.(1693-1695)Atc>Gtc	p.I565V	DSP_ENST00000418664.2_Missense_Mutation_p.I565V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	565	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGCCATGACAATCGCCAAGGT	0.557																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1693-1695)Atc>Gtc		desmoplakin							134.0	125.0	128.0					6																	7570788		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7570788A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1693A>G	6.37:g.7570788A>G	ENSP00000369129:p.Ile565Val					DSP_ENST00000418664.2_Missense_Mutation_p.I565V	p.I565V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	13	2034	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	565			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1693A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115844	0.37339	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74737	-0.52;-0.87	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000014	T	0.43853	0.1266	N	0.12887	0.27	0.40558	D	0.981186	B;B	0.12630	0.002;0.006	B;B	0.06405	0.002;0.001	T	0.41556	-0.9502	10	0.30854	T	0.27	.	15.9377	0.79729	1.0:0.0:0.0:0.0	.	612;565	Q4LE79;P15924	.;DESP_HUMAN	V	565;565;370	ENSP00000369129:I565V;ENSP00000396591:I565V	ENSP00000369129:I565V	I	+	1	0	DSP	7515787	0.996000	0.38824	0.906000	0.35671	0.675000	0.39556	3.388000	0.52509	2.159000	0.67721	0.528000	0.53228	ATC		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		52	114	0	0	0	0.870114	0	52	114				
NPRL3	8131	broad.mit.edu	37	16	139794	139794	+	Missense_Mutation	SNP	G	G	A	rs200792895		TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr16:139794G>A	ENST00000399953.3	-	11	1670	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.P244L|Z69720.2_ENST00000601483.1_RNA	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	423					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						GTCCTCTCGCGGACGGGGCTC	0.667																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(1267-1269)cCg>cTg		nitrogen permease regulator-like 3 (S. cerevisiae)		G	LEU/PRO,LEU/PRO	1,4347		0,1,2173	19.0	27.0	25.0		731,1268	-1.8	0.0	16		25	4,8522		0,4,4259	yes	missense,missense	NPRL3	NM_001039476.2,NM_001077350.2	98,98	0,5,6432	AA,AG,GG		0.0469,0.023,0.0388	benign,benign	244/391,423/570	139794	5,12869	2174	4263	6437	SO:0001583	missense	8131						protein binding	g.chr16:139794G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.1268C>T	16.37:g.139794G>A	ENSP00000382834:p.Pro423Leu					NPRL3_ENST00000399951.3_Missense_Mutation_p.P244L|NPRL3_ENST00000405960.3_5'UTR	p.P423L	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			11	1670	-			423					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.1268C>T		.	.	.	.	.	.	.	.	.	.	G	1.923	-0.447953	0.04572	2.3E-4	4.69E-4	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	4.95	-1.82	0.07857	.	0.812780	0.11853	N	0.523155	T	0.26774	0.0655	.	.	.	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.19128	-1.0315	8	0.27785	T	0.31	-26.5384	10.9451	0.47296	0.3433:0.0:0.6567:0.0	.	345;398;398;423	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	L	423;398;244	.	ENSP00000262313:P398L	P	-	2	0	NPRL3	79794	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	0.387000	0.20718	-0.485000	0.06754	-0.263000	0.10527	CCG		0.667	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		6	14	0	0	0	0.278610	0	6	14				
PTPRD	5789	broad.mit.edu	37	9	8484279	8484279	+	Silent	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr9:8484279G>A	ENST00000381196.4	-	27	3796	c.3253C>T	c.(3253-3255)Ctg>Ttg	p.L1085L	PTPRD_ENST00000397611.3_Silent_p.L671L|PTPRD_ENST00000537002.1_Silent_p.L671L|PTPRD_ENST00000360074.4_Silent_p.L1072L|PTPRD_ENST00000358503.5_Silent_p.L1063L|PTPRD_ENST00000486161.1_Silent_p.L674L|PTPRD_ENST00000397617.3_Silent_p.L664L|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000540109.1_Silent_p.L1085L|PTPRD_ENST00000356435.5_Silent_p.L1085L|PTPRD_ENST00000355233.5_Silent_p.L674L|PTPRD_ENST00000397606.3_Silent_p.L664L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1085	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGATTTGTCAGCACAAATGAA	0.468										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3253-3255)Ctg>Ttg		protein tyrosine phosphatase, receptor type, D							120.0	105.0	110.0					9																	8484279		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484279G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3253C>T	9.37:g.8484279G>A		TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Silent_p.L1085L|PTPRD_ENST00000360074.4_Silent_p.L1072L|PTPRD_ENST00000358503.5_Silent_p.L1063L|PTPRD_ENST00000486161.1_Silent_p.L674L|PTPRD_ENST00000356435.5_Silent_p.L1085L|PTPRD_ENST00000355233.5_Silent_p.L674L|PTPRD_ENST00000397606.3_Silent_p.L664L|PTPRD_ENST00000397611.3_Silent_p.L671L|PTPRD_ENST00000397617.3_Silent_p.L664L|PTPRD_ENST00000537002.1_Silent_p.L671L	p.L1085L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3796	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1085			Fibronectin type-III 8.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.3253C>T	CCDS43786.1																																																																																				0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	159	0	0	0	0.150653	0	4	159				
CD9	928	broad.mit.edu	37	12	6334633	6334633	+	Silent	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr12:6334633A>G	ENST00000382518.1	+	3	544	c.108A>G	c.(106-108)cgA>cgG	p.R36R	CD9_ENST00000382515.2_5'UTR|CD9_ENST00000009180.4_Silent_p.R36R|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	36					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						TATGGCTCCGATTCGACTCTC	0.488																																						ENST00000382518.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						c.(106-108)cgA>cgG		CD9 molecule							192.0	167.0	175.0					12																	6334633		2203	4300	6503	SO:0001819	synonymous_variant	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6334633A>G	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.108A>G	12.37:g.6334633A>G						CD9_ENST00000009180.4_Silent_p.R36R|CD9_ENST00000382515.2_5'UTR|CD9_ENST00000481267.1_3'UTR	p.R36R			P21926	CD9_HUMAN			3	544	+			36					D3DUQ9|Q5J7W6|Q96ES4	Silent	SNP	ENST00000382518.1	37	c.108A>G	CCDS8540.1																																																																																				0.488	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			7	137	0	0	0	0.307466	0	7	137				
ARAP2	116984	broad.mit.edu	37	4	36081903	36081903	+	Splice_Site	SNP	T	T	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr4:36081903T>C	ENST00000303965.4	-	31	5034		c.e31-2			NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CACAGGTGCCTGCAAAACGAG	0.403																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.e31-2		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							87.0	81.0	83.0					4																	36081903		2203	4300	6503	SO:0001630	splice_region_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36081903T>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4545-2A>G	4.37:g.36081903T>C								NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			31	5034	-								Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	SNP	ENST00000303965.4	37		CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357433	0.61293	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2176	0.54414	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARAP2	35758298	1.000000	0.71417	0.985000	0.45067	0.701000	0.40568	4.267000	0.58877	2.133000	0.65898	0.528000	0.53228	.		0.403	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	Intron	3	96	0	0	0	0.115264	0	3	96				
CACHD1	57685	broad.mit.edu	37	1	65095121	65095121	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr1:65095121G>A	ENST00000371073.2	+	5	601	c.601G>A	c.(601-603)Gca>Aca	p.A201T	CACHD1_ENST00000290039.5_Missense_Mutation_p.A150T|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	201					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGTTTTCCCAGCACACAAGTT	0.403																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(601-603)Gca>Aca		cache domain containing 1							156.0	143.0	147.0					1																	65095121		1863	4108	5971	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65095121G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.601G>A	1.37:g.65095121G>A	ENSP00000360113:p.Ala201Thr					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.A150T	p.A201T			Q5VU97	CAHD1_HUMAN			5	601	+			201					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.601G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.430886	0.96150	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.37235	1.21;1.23	5.75	5.75	0.90469	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.47509	-0.9112	10	0.62326	D	0.03	-17.5765	19.9598	0.97242	0.0:0.0:1.0:0.0	.	201	Q5VU97	CAHD1_HUMAN	T	201;150	ENSP00000360113:A201T;ENSP00000290039:A150T	ENSP00000290039:A150T	A	+	1	0	CACHD1	64867709	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.357000	0.97099	2.716000	0.92895	0.655000	0.94253	GCA		0.403	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		4	215	0	0	0	0.184627	0	4	215				
RARS	5917	broad.mit.edu	37	5	167919717	167919717	+	Silent	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr5:167919717C>T	ENST00000231572.3	+	3	288	c.234C>T	c.(232-234)agC>agT	p.S78S	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	78					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACATTATTAGCCGCCTACAAG	0.408																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(232-234)agC>agT		arginyl-tRNA synthetase							109.0	110.0	109.0					5																	167919717		2203	4300	6503	SO:0001819	synonymous_variant	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167919717C>T	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.234C>T	5.37:g.167919717C>T						RARS_ENST00000538719.1_5'UTR	p.S78S	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	3	288	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	78					B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	ENST00000231572.3	37	c.234C>T	CCDS4367.1																																																																																				0.408	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		4	248	0	0	0	0.150653	0	4	248				
GK5	256356	broad.mit.edu	37	3	141934478	141934478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr3:141934478C>T	ENST00000392993.2	-	2	355	c.204G>A	c.(202-204)tgG>tgA	p.W68*	GK5_ENST00000544571.1_Nonsense_Mutation_p.W68*|GK5_ENST00000466685.3_5'UTR	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	68					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CAAATTGAATCCAAAGAACAT	0.284																																						ENST00000392993.2																			0				kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						c.(202-204)tgG>tgA		glycerol kinase 5 (putative)							46.0	45.0	45.0					3																	141934478		2201	4294	6495	SO:0001587	stop_gained	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141934478C>T	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.204G>A	3.37:g.141934478C>T	ENSP00000418001:p.Trp68*					GK5_ENST00000544571.1_Nonsense_Mutation_p.W68*|GK5_ENST00000466685.3_5'UTR	p.W68*	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN			2	355	-			68					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Nonsense_Mutation	SNP	ENST00000392993.2	37	c.204G>A	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731855	0.89390	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4745	17.7567	0.88451	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000418001:W68X	W	-	3	0	GK5	143417168	0.998000	0.40836	0.949000	0.38748	0.729000	0.41735	4.895000	0.63214	2.478000	0.83669	0.585000	0.79938	TGG		0.284	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		5	78	0	0	0	0.184627	0	5	78				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			101927060							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	139	0	0	0	0.150653	0	4	139				
CBLL1	79872	broad.mit.edu	37	7	107399418	107399418	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr7:107399418A>T	ENST00000440859.3	+	6	1738	c.1271A>T	c.(1270-1272)tAt>tTt	p.Y424F	CBLL1_ENST00000222597.2_Missense_Mutation_p.Y423F	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	424	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCTCACCATTATAATCCTAAC	0.502																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1270-1272)tAt>tTt		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							182.0	164.0	170.0					7																	107399418		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399418A>T	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1271A>T	7.37:g.107399418A>T	ENSP00000401277:p.Tyr424Phe					CBLL1_ENST00000222597.2_Missense_Mutation_p.Y423F	p.Y424F	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1738	+			424			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.1271A>T	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151239	0.57151	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597	T;T	0.52526	0.66;0.66	4.99	4.99	0.66335	.	0.197669	0.45361	D	0.000361	T	0.65123	0.2661	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70935	0.971;0.971	T	0.69224	-0.5201	10	0.87932	D	0	-3.2085	14.6774	0.68989	1.0:0.0:0.0:0.0	.	423;424	B7ZM03;Q75N03	.;HAKAI_HUMAN	F	424;303;423	ENSP00000401277:Y424F;ENSP00000222597:Y423F	ENSP00000222597:Y423F	Y	+	2	0	CBLL1	107186654	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.282000	0.89907	1.883000	0.54544	0.240000	0.17902	TAT		0.502	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		19	189	0	0	0	0.557998	0	19	189				
SULF2	55959	broad.mit.edu	37	20	46294036	46294036	+	Splice_Site	SNP	A	A	G	rs550567421	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr20:46294036A>G	ENST00000359930.4	-	14	2755	c.1904T>C	c.(1903-1905)aTt>aCt	p.I635T	SULF2_ENST00000361612.4_Splice_Site_p.I635T|SULF2_ENST00000484875.1_Splice_Site_p.I635T|SULF2_ENST00000467815.1_Splice_Site_p.I635T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	635					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.I635T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAGGGTTTCAATCTGAGGGAG	0.532													A|||	2	0.000399361	0.0	0.0014	5008	,	,		17262	0.001		0.0	False		,,,				2504	0.0					ENST00000359930.4																			1	Substitution - Missense(1)	p.I635T(1)	lung(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.e14-1		sulfatase 2							117.0	119.0	119.0					20																	46294036		2203	4300	6503	SO:0001630	splice_region_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46294036A>G	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1903-1T>C	20.37:g.46294036A>G						SULF2_ENST00000467815.1_Splice_Site_p.I635_splice|SULF2_ENST00000361612.4_Splice_Site_p.I635_splice|SULF2_ENST00000484875.1_Splice_Site_p.I635_splice	p.I635_splice	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			14	2755	-			635					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Splice_Site	SNP	ENST00000359930.4	37	c.1902_splice	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306352	0.81247	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.99598	-6.26;-6.26;-6.25;-6.25	5.15	5.15	0.70609	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	M	0.79805	2.47	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98052	1.0388	10	0.87932	D	0	-15.3764	14.9677	0.71208	1.0:0.0:0.0:0.0	.	635;635	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	T	635;635;635;54;635	ENSP00000353007:I635T;ENSP00000418290:I635T;ENSP00000354662:I635T;ENSP00000418442:I635T	ENSP00000353007:I635T	I	-	2	0	SULF2	45727443	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	9.308000	0.96247	1.939000	0.56221	0.379000	0.24179	ATT		0.532	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	Missense_Mutation	4	262	0	0	0	0.150653	0	4	262				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			3	90	0	0	0	0.217242	0	3	90				
TLR4	7099	broad.mit.edu	37	9	120475351	120475351	+	Silent	SNP	G	G	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr9:120475351G>C	ENST00000355622.6	+	3	1046	c.945G>C	c.(943-945)ctG>ctC	p.L315L	TLR4_ENST00000394487.4_Silent_p.L275L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	315					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CATTTTCCCTGGTGAGTGTGA	0.318																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(943-945)ctG>ctC		toll-like receptor 4							73.0	80.0	78.0					9																	120475351		2203	4299	6502	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475351G>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.945G>C	9.37:g.120475351G>C						TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L275L	p.L315L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1046	+			315					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.945G>C	CCDS6818.1																																																																																				0.318	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		57	161	0	0	0	0.870114	0	57	161				
SF3B2	10992	broad.mit.edu	37	11	65820518	65820518	+	Silent	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr11:65820518G>A	ENST00000322535.6	+	3	250	c.201G>A	c.(199-201)cgG>cgA	p.R67R	SF3B2_ENST00000528302.1_Silent_p.R67R|snoU13_ENST00000459530.1_RNA	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	67					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGCTGAATCGGCCGGTTTTGA	0.488																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(199-201)cgG>cgA		splicing factor 3b, subunit 2, 145kDa							197.0	200.0	199.0					11																	65820518		2201	4296	6497	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65820518G>A	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.201G>A	11.37:g.65820518G>A						SF3B2_ENST00000322535.6_Silent_p.R67R	p.R67R			Q13435	SF3B2_HUMAN			3	255	+			67					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.201G>A	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772285	0.31411	.	.	ENSG00000087365	ENST00000533421	.	.	.	4.99	0.946	0.19549	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	-23.1439	1.6377	0.02746	0.1804:0.1636:0.4875:0.1685	.	.	.	.	D	18	.	.	G	+	2	0	SF3B2	65577094	0.992000	0.36948	0.996000	0.52242	0.997000	0.91878	0.132000	0.15891	0.013000	0.14918	0.655000	0.94253	GGC		0.488	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			5	289	0	0	0	0.248553	0	5	289				
SLC22A17	51310	broad.mit.edu	37	14	23816939	23816939	+	Splice_Site	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr14:23816939A>G	ENST00000206544.8	-	7	1282	c.946T>C	c.(946-948)Ttc>Ctc	p.F316L	SLC22A17_ENST00000397260.3_Splice_Site_p.F205L|SLC22A17_ENST00000354772.3_Splice_Site_p.F316L|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Splice_Site_p.F316L	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	316					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TGGGCAATGAAGCTGTGAGAA	0.642																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.e8-1		solute carrier family 22, member 17							57.0	64.0	61.0					14																	23816939		2203	4300	6503	SO:0001630	splice_region_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23816939A>G	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.945-1T>C	14.37:g.23816939A>G						SLC22A17_ENST00000397267.1_Splice_Site_p.F316_splice|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Splice_Site_p.F205_splice|SLC22A17_ENST00000206544.8_Splice_Site_p.F316_splice	p.F316_splice	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	8	1449	-	all_cancers(95;7.12e-06)		316					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Splice_Site	SNP	ENST00000206544.8	37	c.944_splice	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	A	5.923	0.354412	0.11239	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.152934	0.45867	D	0.000333	T	0.58524	0.2128	N	0.17248	0.465	0.54753	D	0.999982	P;P	0.36909	0.453;0.573	B;B	0.40565	0.159;0.333	T	0.63625	-0.6595	10	0.54805	T	0.06	-17.6565	12.3969	0.55391	1.0:0.0:0.0:0.0	.	316;316	Q8WUG5-2;Q8WUG5	.;S22AH_HUMAN	L	316;205;316;316	ENSP00000346824:F316L;ENSP00000380430:F205L;ENSP00000206544:F316L;ENSP00000380437:F316L	ENSP00000206544:F316L	F	-	1	0	SLC22A17	22886779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.803000	0.62546	2.125000	0.65367	0.533000	0.62120	TTC		0.642	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	Missense_Mutation	3	97	0	0	0	0.150653	0	3	97				
RP11-383M4.6	0	broad.mit.edu	37	9	84547870	84547870	+	lincRNA	SNP	T	T	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr9:84547870T>C	ENST00000585776.1	-	0	1039				RP11-383M4.2_ENST00000427387.1_lincRNA|SPATA31D4_ENST00000341875.4_RNA																							CGTGAACCCATAGAAATCTTC	0.428																																						ENST00000585776.1																			0																				14.0	11.0	12.0					9																	84547870		675	1541	2216			389761							g.chr9:84547870T>C																													9.37:g.84547870T>C						SPATA31D4_ENST00000341875.4_RNA								0	1039	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.428	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			3	45	0	0	0	0.115264	0	3	45				
SLC36A1	206358	broad.mit.edu	37	5	150838431	150838431	+	Silent	SNP	G	G	A	rs142064945		TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr5:150838431G>A	ENST00000243389.3	+	2	301	c.78G>A	c.(76-78)tcG>tcA	p.S26S	SLC36A1_ENST00000520701.1_Silent_p.S26S|SLC36A1_ENST00000429484.2_Silent_p.S26S|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000521925.1_Silent_p.S26S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	26					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	AGAGCCCGTCGGAAGGCCTCA	0.602																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(76-78)tcG>tcA		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)	G		1,4405	2.1+/-5.4	0,1,2202	69.0	65.0	67.0		78	-11.1	0.0	5	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	SLC36A1	NM_078483.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		26/477	150838431	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150838431G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.78G>A	5.37:g.150838431G>A						SLC36A1_ENST00000521925.1_Silent_p.S26S|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000429484.2_Silent_p.S26S|SLC36A1_ENST00000520701.1_Silent_p.S26S	p.S26S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	301	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	26					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	ENST00000243389.3	37	c.78G>A	CCDS4316.1																																																																																				0.602	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		31	52	0	0	0	0.750413	0	31	52				
KIF24	347240	broad.mit.edu	37	9	34259681	34259681	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr9:34259681C>T	ENST00000402558.2	-	9	1562	c.1538G>A	c.(1537-1539)gGc>gAc	p.G513D	KIF24_ENST00000379166.2_Missense_Mutation_p.G513D|KIF24_ENST00000345050.2_Missense_Mutation_p.G379D|KIF24_ENST00000379174.3_Missense_Mutation_p.G379D			Q5T7B8	KIF24_HUMAN	kinesin family member 24	513	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTGGCATTGCCGATGAAAGA	0.493																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1537-1539)gGc>gAc		kinesin family member 24							331.0	254.0	280.0					9																	34259681		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34259681C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1538G>A	9.37:g.34259681C>T	ENSP00000384433:p.Gly513Asp					KIF24_ENST00000345050.2_Missense_Mutation_p.G379D|KIF24_ENST00000379174.3_Missense_Mutation_p.G379D|KIF24_ENST00000402558.2_Missense_Mutation_p.G513D	p.G513D	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		10	1657	-			513					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.1538G>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	34	5.322304	0.95708	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.71	5.71	0.89125	Kinesin, motor domain (4);	0.000000	0.47852	D	0.000213	D	0.94902	0.8352	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96213	0.9154	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	513;513	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	D	513;379;513;379;513	ENSP00000384433:G513D;ENSP00000368472:G379D;ENSP00000368464:G513D;ENSP00000340179:G379D	ENSP00000340179:G379D	G	-	2	0	KIF24	34249681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.829000	0.75314	2.687000	0.91594	0.655000	0.94253	GGC		0.493	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			6	232	0	0	0	0.248553	0	6	232				
HERC2	8924	broad.mit.edu	37	15	28375699	28375699	+	Silent	SNP	G	G	A	rs61756151	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTGGGATCCGCATTCCACTT	0.418													G|||	24	0.00479233	0.0	0.0029	5008	,	,		19360	0.0		0.003	False		,,,				2504	0.0194					ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12610-12612)tgC>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		1,4405	2.1+/-5.4	0,1,2202	185.0	196.0	192.0		12612	-1.0	1.0	15	dbSNP_129	192	32,8568	22.8+/-68.1	0,32,4268	no	coding-synonymous	HERC2	NM_004667.4		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		4204/4835	28375699	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375699G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12612C>T	15.37:g.28375699G>A							p.C4204C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	82	12720	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4204						Silent	SNP	ENST00000261609.7	37	c.12612C>T	CCDS10021.1																																																																																				0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	406	0	0	0	0.248553	0	7	406				
NUDT12	83594	broad.mit.edu	37	5	102894748	102894748	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr5:102894748G>A	ENST00000230792.2	-	3	724	c.628C>T	c.(628-630)Ctt>Ttt	p.L210F	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_Missense_Mutation_p.L192F	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	210					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GCATAATTAAGTAGTTTGTCT	0.403																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(628-630)Ctt>Ttt		nudix (nucleoside diphosphate linked moiety X)-type motif 12							89.0	91.0	90.0					5																	102894748		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102894748G>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.628C>T	5.37:g.102894748G>A	ENSP00000230792:p.Leu210Phe					NUDT12_ENST00000507423.1_Missense_Mutation_p.L192F	p.L210F	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	3	724	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	210					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.628C>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.752384	0.00663	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.18502	3.43;2.21	5.85	-4.36	0.03645	NADH pyrophosphatase-like, N-terminal (1);	2.214670	0.01480	N	0.016634	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21449	-1.0245	10	0.11485	T	0.65	1.6513	1.8404	0.03149	0.2109:0.126:0.4459:0.2172	.	192;210	E7EM93;Q9BQG2	.;NUD12_HUMAN	F	210;192	ENSP00000230792:L210F;ENSP00000424521:L192F	ENSP00000230792:L210F	L	-	1	0	NUDT12	102922647	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.441000	0.06879	-0.466000	0.06943	-0.133000	0.14855	CTT		0.403	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		20	201	0	0	0	0.557998	0	20	201				
DNAH3	55567	broad.mit.edu	37	16	21108814	21108814	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr16:21108814T>C	ENST00000261383.3	-	18	2526	c.2527A>G	c.(2527-2529)Aat>Gat	p.N843D	DNAH3_ENST00000415178.1_Missense_Mutation_p.N843D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	843	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCCTTATTGATCAACTGC	0.478																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2527-2529)Aat>Gat		dynein, axonemal, heavy chain 3							116.0	95.0	102.0					16																	21108814		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21108814T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2527A>G	16.37:g.21108814T>C	ENSP00000261383:p.Asn843Asp					DNAH3_ENST00000415178.1_Missense_Mutation_p.N843D	p.N843D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	18	2526	-			843			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2527A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673407	0.88445	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.26518	1.73;1.81	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.55213	1.73	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.39333	-0.9619	10	0.72032	D	0.01	.	15.5807	0.76432	0.0:0.0:0.0:1.0	.	843	Q8TD57	DYH3_HUMAN	D	843	ENSP00000261383:N843D;ENSP00000394245:N843D	ENSP00000261383:N843D	N	-	1	0	DNAH3	21016315	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.584000	0.74057	2.179000	0.69175	0.528000	0.53228	AAT		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	126	0	0	0	0.184627	0	4	126				
KRT25	147183	broad.mit.edu	37	17	38907252	38907252	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr17:38907252C>T	ENST00000312150.4	-	5	971	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGAAGAGTGCGCTTCATTTC	0.473																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(910-912)cGc>cAc		keratin 25							124.0	122.0	123.0					17																	38907252		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907252C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.911G>A	17.37:g.38907252C>T	ENSP00000310573:p.Arg304His						p.R304H	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			5	971	-		Breast(137;0.00526)	304			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.911G>A	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878808	0.91740	.	.	ENSG00000204897	ENST00000312150	D	0.90504	-2.68	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000005	D	0.95345	0.8489	M	0.74546	2.27	0.44227	D	0.997062	D	0.89917	1.0	D	0.83275	0.996	D	0.94344	0.7573	9	.	.	.	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	304	Q7Z3Z0	K1C25_HUMAN	H	304	ENSP00000310573:R304H	.	R	-	2	0	KRT25	36160778	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	3.708000	0.54845	2.758000	0.94735	0.655000	0.94253	CGC		0.473	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		4	174	0	0	0	0.150653	0	4	174				
PACSIN3	29763	broad.mit.edu	37	11	47200712	47200712	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr11:47200712C>T	ENST00000539589.1	-	8	1240	c.898G>A	c.(898-900)Gag>Aag	p.E300K	ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.E300K|ARFGAP2_ENST00000319543.6_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	300	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ACACATGCCTCGAACTGTGGC	0.627																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(898-900)Gag>Aag		protein kinase C and casein kinase substrate in neurons 3							130.0	139.0	136.0					11																	47200712		2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47200712C>T	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.898G>A	11.37:g.47200712C>T	ENSP00000440945:p.Glu300Lys					PACSIN3_ENST00000298838.6_Missense_Mutation_p.E300K	p.E300K	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			8	1240	-			300					A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.898G>A	CCDS31481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.674082|4.674082	0.88445|0.88445	.|.	.|.	ENSG00000165912|ENSG00000165912	ENST00000298838;ENST00000539589;ENST00000528462|ENST00000533686	T;T;T|.	0.39056|.	1.1;1.1;1.1|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.202869|.	0.40908|.	D|.	0.000998|.	T|T	0.74015|0.74015	0.3661|0.3661	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70227|.	0.968|.	T|T	0.74844|0.74844	-0.3526|-0.3526	10|5	0.30854|.	T|.	0.27|.	-35.7125|-35.7125	12.5331|12.5331	0.56126|0.56126	0.0:0.9233:0.0:0.0767|0.0:0.9233:0.0:0.0767	.|.	300|.	Q9UKS6|.	PACN3_HUMAN|.	K|Q	300|22	ENSP00000298838:E300K;ENSP00000440945:E300K;ENSP00000437252:E300K|.	ENSP00000298838:E300K|.	E|R	-|-	1|2	0|0	PACSIN3|PACSIN3	47157288|47157288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	6.041000|6.041000	0.70988|0.70988	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.627	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		80	207	0	0	0	0.870114	0	80	207				
KIF14	9928	broad.mit.edu	37	1	200584483	200584483	+	Splice_Site	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr1:200584483G>A	ENST00000367350.4	-	3	1805	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	456	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACAACTTACGTATATGATTT	0.383																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.e3+1		kinesin family member 14							84.0	88.0	87.0					1																	200584483		2203	4300	6503	SO:0001630	splice_region_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200584483G>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1367+1C>T	1.37:g.200584483G>A							p.T456_splice	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			3	1805	-			456			Kinesin-motor.		Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	37	c.1367_splice	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077864	0.94000	.	.	ENSG00000118193	ENST00000367350	D	0.85702	-2.02	5.94	5.94	0.96194	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97515	1.0069	9	.	.	.	.	20.369	0.98888	0.0:0.0:1.0:0.0	.	456	Q15058	KIF14_HUMAN	M	456	ENSP00000356319:T456M	.	T	-	2	0	KIF14	198851106	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.374000	0.97172	2.819000	0.97034	0.650000	0.86243	ACG		0.383	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	Missense_Mutation	4	205	0	0	0	0.184627	0	4	205				
KIFC1	3833	broad.mit.edu	37	6	33374019	33374019	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr6:33374019G>A	ENST00000428849.2	+	8	2033	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	528	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCTGTGGCCCGCACAGCCCAG	0.607																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1582-1584)cGc>cAc		kinesin family member C1							63.0	74.0	71.0					6																	33374019		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374019G>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1583G>A	6.37:g.33374019G>A	ENSP00000393963:p.Arg528His						p.R528H	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			8	2033	+			528			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1583G>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	g	14.20	2.464579	0.43736	.	.	ENSG00000237649	ENST00000428849	T	0.74947	-0.89	5.29	2.52	0.30459	Kinesin, motor domain (4);	0.368199	0.29501	N	0.011962	T	0.31949	0.0813	N	0.11724	0.165	0.33777	D	0.62375	B;B	0.32425	0.241;0.371	B;B	0.28784	0.064;0.094	T	0.04565	-1.0942	10	0.35671	T	0.21	-26.1235	7.3144	0.26493	0.3411:0.0:0.6589:0.0	.	520;528	B4E063;Q9BW19	.;KIFC1_HUMAN	H	528	ENSP00000393963:R528H	ENSP00000393963:R528H	R	+	2	0	KIFC1	33481997	1.000000	0.71417	0.994000	0.49952	0.847000	0.48162	1.933000	0.40153	0.355000	0.24131	0.558000	0.71614	CGC		0.607	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		4	122	0	0	0	0.150653	0	4	122				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		5	167	0	0	0	0.184627	0	5	167				
WNK1	65125	broad.mit.edu	37	12	995245	995245	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr12:995245G>T	ENST00000315939.6	+	19	5918	c.5275G>T	c.(5275-5277)Gct>Tct	p.A1759S	WNK1_ENST00000535572.1_Missense_Mutation_p.A1512S|WNK1_ENST00000537687.1_Missense_Mutation_p.A2019S|WNK1_ENST00000340908.4_Missense_Mutation_p.A1352S|WNK1_ENST00000530271.2_Missense_Mutation_p.A2257S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1759					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTAACTAAGGCTCCGGTAAA	0.398																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(6055-6057)Gct>Tct		WNK lysine deficient protein kinase 1							53.0	53.0	53.0					12																	995245		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:995245G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5275G>T	12.37:g.995245G>T	ENSP00000313059:p.Ala1759Ser					WNK1_ENST00000535572.1_Missense_Mutation_p.A1512S|WNK1_ENST00000530271.2_Missense_Mutation_p.A2257S|WNK1_ENST00000315939.6_Missense_Mutation_p.A1759S|WNK1_ENST00000340908.4_Missense_Mutation_p.A1352S	p.A2019S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6698	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1759					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.6055G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	8.211	0.800390	0.16397	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.69926	-0.44;-0.4;-0.41;-0.43;0.76	5.87	-2.63	0.06133	.	0.804575	0.11209	N	0.587936	T	0.41880	0.1178	N	0.14661	0.345	0.22571	N	0.998974	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.12967	-1.0527	10	0.51188	T	0.08	-0.5482	4.0792	0.09919	0.2009:0.2922:0.4155:0.0913	.	1512;1512;1759	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	S	1512;1759;2019;932;2257;1352	ENSP00000441972:A1512S;ENSP00000313059:A1759S;ENSP00000444465:A2019S;ENSP00000433548:A2257S;ENSP00000341292:A1352S	ENSP00000252477:A932S	A	+	1	0	WNK1	865506	1.000000	0.71417	0.646000	0.29493	0.127000	0.20565	1.127000	0.31357	-1.122000	0.02945	-0.795000	0.03280	GCT		0.398	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		29	88	1	0	6.00712e-18	0.760397	7.15742e-18	29	88				
ATXN1	6310	broad.mit.edu	37	6	16328215	16328215	+	Silent	SNP	C	C	T	rs114230242	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr6:16328215C>T	ENST00000244769.4	-	8	1263	c.327G>A	c.(325-327)ccG>ccA	p.P109P	ATXN1_ENST00000436367.1_Silent_p.P109P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	109					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TCCCTGGCTGCGGGGTGGCGT	0.642													C|||	4	0.000798722	0.0008	0.0	5008	,	,		14585	0.0		0.003	False		,,,				2504	0.0					ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(325-327)ccG>ccA		ataxin 1		C	,	0,4406		0,0,2203	53.0	57.0	55.0		327,327	-3.2	0.4	6	dbSNP_133	55	18,8582	14.6+/-50.1	0,18,4282	no	coding-synonymous,coding-synonymous	ATXN1	NM_000332.3,NM_001128164.1	,	0,18,6485	TT,TC,CC		0.2093,0.0,0.1384	,	109/816,109/816	16328215	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328215C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.327G>A	6.37:g.16328215C>T						ATXN1_ENST00000436367.1_Silent_p.P109P	p.P109P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1263	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	109					Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.327G>A	CCDS34342.1																																																																																				0.642	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		28	58	0	0	0	0.750413	0	28	58				
UQCRC1	7384	broad.mit.edu	37	3	48638261	48638261	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr3:48638261G>A	ENST00000203407.5	-	9	1395	c.979C>T	c.(979-981)Cca>Tca	p.P327S		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	327					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAAGCCAGTGGGCTGGACAGG	0.597																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(979-981)Cca>Tca		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						53.0	52.0	53.0					3																	48638261		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48638261G>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.979C>T	3.37:g.48638261G>A	ENSP00000203407:p.Pro327Ser						p.P327S	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	9	1395	-			327					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.979C>T	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381563	0.42207	.	.	ENSG00000010256	ENST00000203407	T	0.28454	1.61	5.72	4.85	0.62838	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.153823	0.64402	N	0.000016	T	0.32010	0.0815	M	0.63843	1.955	0.29620	N	0.846266	B;B	0.18310	0.002;0.027	B;B	0.26094	0.019;0.066	T	0.28744	-1.0034	10	0.48119	T	0.1	-6.3852	9.413	0.38503	0.0758:0.0:0.7474:0.1769	.	212;327	B4DUL5;P31930	.;QCR1_HUMAN	S	327	ENSP00000203407:P327S	ENSP00000203407:P327S	P	-	1	0	UQCRC1	48613265	0.999000	0.42202	1.000000	0.80357	0.877000	0.50540	2.903000	0.48711	1.431000	0.47355	0.561000	0.74099	CCA		0.597	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		4	83	0	0	0	0.217242	0	4	83				
OR2C3	81472	broad.mit.edu	37	1	247695757	247695757	+	Silent	SNP	G	G	A	rs61746303|rs386641879	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr1:247695757G>A	ENST00000366487.3	-	2	418	c.57C>T	c.(55-57)tcC>tcT	p.S19S	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S19S(1)|p.S18S(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGTCGTGTGGAGAAGCCCA	0.488													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0					ENST00000366487.3																			2	Substitution - coding silent(2)	p.S19S(1)|p.S18S(1)	prostate(2)	breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(55-57)tcC>tcT		olfactory receptor, family 2, subfamily C, member 3		G		8,4398	2.1+/-5.4	0,8,2195	78.0	73.0	74.0		57	-1.9	0.2	1	dbSNP_129	74	0,8600		0,0,4300	no	coding-synonymous	OR2C3	NM_198074.4		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		19/321	247695757	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695757G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.57C>T	1.37:g.247695757G>A						GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron	p.S19S	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	418	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	19					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.57C>T	CCDS1634.2																																																																																				0.488	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		7	116	0	0	0	0.335167	0	7	116				
PEG3	5178	broad.mit.edu	37	19	57327002	57327002	+	Silent	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr19:57327002A>G	ENST00000326441.9	-	10	3171	c.2808T>C	c.(2806-2808)cgT>cgC	p.R936R	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.R936R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.R810R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.R812R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	936					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTTTTAGCACGAGCCTTCT	0.453																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2806-2808)cgT>cgC		paternally expressed 3							128.0	127.0	127.0					19																	57327002		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327002A>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2808T>C	19.37:g.57327002A>G						ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.R936R|PEG3_ENST00000598410.1_Silent_p.R812R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.R810R	p.R936R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3171	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	936					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2808T>C	CCDS12948.1																																																																																				0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			70	232	0	0	0	0.870114	0	70	232				
IGHV3-21	28444	broad.mit.edu	37	14	106691745	106691745	+	RNA	SNP	G	G	A	rs537599261	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr14:106691745G>A	ENST00000390607.2	-	0	357									immunoglobulin heavy variable 3-21																		AGTTCTTGGCGTTGTCTCTGG	0.512													g|||	4	0.000798722	0.0015	0.0014	5008	,	,		12188	0.001		0.0	False		,,,				2504	0.0					ENST00000390607.2																			0																				140.0	132.0	134.0					14																	106691745		1933	4124	6057			28444							g.chr14:106691745G>A	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691745G>A														0	357	-									RNA	SNP	ENST00000390607.2	37																																																																																						0.512	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		46	158	0	0	0	0.870114	0	46	158				
LRP4	4038	broad.mit.edu	37	11	46924371	46924371	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr11:46924371G>T	ENST00000378623.1	-	2	404	c.162C>A	c.(160-162)gaC>gaA	p.D54E		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	54	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGCAGTCATTGTCTCCATCAC	0.607																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(160-162)gaC>gaA		low density lipoprotein receptor-related protein 4							90.0	82.0	85.0					11																	46924371		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46924371G>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.162C>A	11.37:g.46924371G>T	ENSP00000367888:p.Asp54Glu						p.D54E	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	2	404	-			54			LDL-receptor class A 1.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.162C>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660928	0.88154	.	.	ENSG00000134569	ENST00000378623	D	0.95171	-3.63	5.86	5.86	0.93980	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	L	0.31526	0.94	0.58432	D	0.999998	B	0.25563	0.129	B	0.29524	0.103	D	0.86986	0.2107	10	0.14252	T	0.57	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	54	O75096	LRP4_HUMAN	E	54	ENSP00000367888:D54E	ENSP00000367888:D54E	D	-	3	2	LRP4	46880947	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.698000	0.61789	2.775000	0.95449	0.655000	0.94253	GAC		0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		21	58	1	0	2.89027e-11	0.624587	3.37198e-11	21	58				
GPRASP1	9737	broad.mit.edu	37	X	101913005	101913005	+	Silent	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chrX:101913005C>T	ENST00000361600.5	+	5	4965	c.4164C>T	c.(4162-4164)gaC>gaT	p.D1388D	GPRASP1_ENST00000415986.1_Silent_p.D1388D|GPRASP1_ENST00000444152.1_Silent_p.D1388D|GPRASP1_ENST00000537097.1_Silent_p.D1388D|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1388	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAAAATGACCCTGAAGGGG	0.368																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(4162-4164)gaC>gaT		G protein-coupled receptor associated sorting protein 1							20.0	19.0	19.0					X																	101913005		2189	4231	6420	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101913005C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.4164C>T	X.37:g.101913005C>T						GPRASP1_ENST00000444152.1_Silent_p.D1388D|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.D1388D|GPRASP1_ENST00000415986.1_Silent_p.D1388D	p.D1388D	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4977	+			1388			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.4164C>T	CCDS35352.1																																																																																				0.368	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		3	28	0	0	0	0.115264	0	3	28				
FBXO43	286151	broad.mit.edu	37	8	101154158	101154158	+	Silent	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr8:101154158A>G	ENST00000428847.2	-	2	640	c.324T>C	c.(322-324)ccT>ccC	p.P108P		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	108					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGAAGTTTCAGGGTGCTCAT	0.358																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(322-324)ccT>ccC		F-box protein 43							105.0	96.0	99.0					8																	101154158		1811	4070	5881	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101154158A>G	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.324T>C	8.37:g.101154158A>G							p.P108P	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	640	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		108						Silent	SNP	ENST00000428847.2	37	c.324T>C	CCDS47904.1																																																																																				0.358	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		3	209	0	0	0	0.115264	0	3	209				
CCDC108	255101	broad.mit.edu	37	2	219892412	219892412	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr2:219892412C>A	ENST00000341552.5	-	13	2254	c.2171G>T	c.(2170-2172)tGc>tTc	p.C724F	CCDC108_ENST00000453220.1_Missense_Mutation_p.C724F|CCDC108_ENST00000409865.3_Missense_Mutation_p.C713F|CCDC108_ENST00000410037.1_Missense_Mutation_p.C659F|CCDC108_ENST00000441968.1_Missense_Mutation_p.C724F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	724						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGTAAAGGCAGTTGGGGTG	0.607																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2170-2172)tGc>tTc		coiled-coil domain containing 108							82.0	84.0	83.0					2																	219892412		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892412C>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2171G>T	2.37:g.219892412C>A	ENSP00000340776:p.Cys724Phe					CCDC108_ENST00000453220.1_Missense_Mutation_p.C724F|CCDC108_ENST00000441968.1_Missense_Mutation_p.C724F|CCDC108_ENST00000409865.3_Missense_Mutation_p.C713F|CCDC108_ENST00000410037.1_Missense_Mutation_p.C659F	p.C724F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2254	-		Renal(207;0.0915)	724					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2171G>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087560	0.36855	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07327	3.55;3.55;3.55;3.2;3.21	5.18	0.948	0.19561	.	1.710990	0.02926	N	0.138648	T	0.11239	0.0274	L	0.44542	1.39	0.09310	N	1	P;P;P	0.44090	0.684;0.684;0.826	B;B;B	0.43103	0.328;0.328;0.408	T	0.30621	-0.9972	10	0.56958	D	0.05	-1.916	7.1038	0.25353	0.1133:0.3725:0.4412:0.073	.	713;658;724	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	F	724;724;724;200;713;659;658	ENSP00000340776:C724F;ENSP00000413377:C724F;ENSP00000409117:C724F;ENSP00000386945:C713F;ENSP00000386258:C659F	ENSP00000340776:C724F	C	-	2	0	CCDC108	219600656	0.662000	0.27439	0.076000	0.20297	0.857000	0.48899	0.315000	0.19451	0.302000	0.22762	0.655000	0.94253	TGC		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		11	124	1	0	3.27435e-08	0.457914	3.74212e-08	11	124				
TM7SF3	51768	broad.mit.edu	37	12	27143451	27143451	+	Missense_Mutation	SNP	G	G	A	rs191006418	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr12:27143451G>A	ENST00000343028.4	-	6	1025	c.800C>T	c.(799-801)gCt>gTt	p.A267V	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	267						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AATGTAGGCAGCAGATGTATT	0.448													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19124	0.0		0.0	False		,,,				2504	0.001					ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(799-801)gCt>gTt		transmembrane 7 superfamily member 3							139.0	123.0	129.0					12																	27143451		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27143451G>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.800C>T	12.37:g.27143451G>A	ENSP00000342322:p.Ala267Val					TM7SF3_ENST00000542667.1_Intron	p.A267V	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			6	1025	-	Colorectal(261;0.0847)		267					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.800C>T	CCDS8710.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.9	5.041499	0.93685	.	.	ENSG00000064115	ENST00000343028;ENST00000545344;ENST00000543655;ENST00000535819	T;T;T	0.57907	0.84;0.37;0.37	5.0	5.0	0.66597	.	0.051228	0.85682	D	0.000000	T	0.65165	0.2665	M	0.72894	2.215	0.80722	D	1	D	0.61080	0.989	P	0.51806	0.68	T	0.71293	-0.4636	10	0.87932	D	0	-11.8597	18.6684	0.91501	0.0:0.0:1.0:0.0	.	267	Q9NS93	TM7S3_HUMAN	V	267;10;58;58	ENSP00000342322:A267V;ENSP00000441924:A58V;ENSP00000445156:A58V	ENSP00000342322:A267V	A	-	2	0	TM7SF3	27034718	1.000000	0.71417	0.994000	0.49952	0.863000	0.49368	8.845000	0.92153	2.479000	0.83701	0.585000	0.79938	GCT		0.448	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		4	162	0	0	0	0.184627	0	4	162				
MLF1	4291	broad.mit.edu	37	3	158315963	158315963	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr3:158315963A>G	ENST00000355893.5	+	4	512	c.374A>G	c.(373-375)cAg>cGg	p.Q125R	MLF1_ENST00000469452.1_Intron|MLF1_ENST00000471745.1_Missense_Mutation_p.Q115R|MLF1_ENST00000392822.3_Missense_Mutation_p.Q156R|MLF1_ENST00000484955.1_Missense_Mutation_p.Q100R|MLF1_ENST00000482628.1_Missense_Mutation_p.Q100R|MLF1_ENST00000478894.2_Missense_Mutation_p.Q115R|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000359117.5_Missense_Mutation_p.Q100R	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	125	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AAGGTTTTTCAGGCCTCAACT	0.393			T	NPM1	AML																																	ENST00000359117.5				Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		0				large_intestine(3)	3						c.(298-300)cAg>cGg		myeloid leukemia factor 1							70.0	71.0	71.0					3																	158315963		2203	4300	6503	SO:0001583	missense	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158315963A>G	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.374A>G	3.37:g.158315963A>G	ENSP00000348157:p.Gln125Arg					MLF1_ENST00000355893.5_Missense_Mutation_p.Q125R|MLF1_ENST00000482628.1_Missense_Mutation_p.Q100R|MLF1_ENST00000478894.2_Missense_Mutation_p.Q115R|MLF1_ENST00000484955.1_Missense_Mutation_p.Q100R|MLF1_ENST00000392822.3_Missense_Mutation_p.Q156R|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000471745.1_Missense_Mutation_p.Q115R|MLF1_ENST00000497004.1_3'UTR	p.Q100R	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		4	535	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	125			Interaction with COPS3.		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	ENST00000355893.5	37	c.299A>G	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699503	0.88830	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T	0.56103	0.56;0.49;0.54;0.54;0.57;0.49;0.54;0.49;0.48	5.44	5.44	0.79542	.	0.067945	0.64402	D	0.000012	T	0.74635	0.3742	M	0.82193	2.58	0.47245	D	0.999366	D;D	0.89917	1.0;0.999	D;D	0.85130	0.993;0.997	T	0.78275	-0.2267	10	0.56958	D	0.05	-13.542	15.5082	0.75757	1.0:0.0:0.0:0.0	.	156;125	Q8N8F8;P58340	.;MLF1_HUMAN	R	51;125;100;100;80;115;115;100;115;156;140	ENSP00000420410:Q51R;ENSP00000348157:Q125R;ENSP00000417835:Q100R;ENSP00000352025:Q100R;ENSP00000419636:Q80R;ENSP00000420134:Q115R;ENSP00000417141:Q100R;ENSP00000417777:Q115R;ENSP00000376568:Q156R	ENSP00000348157:Q125R	Q	+	2	0	MLF1	159798657	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.485000	0.73625	2.072000	0.62099	0.460000	0.39030	CAG		0.393	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		3	170	0	0	0	0.115264	0	3	170				
SLC22A23	63027	broad.mit.edu	37	6	3324228	3324228	+	Silent	SNP	G	G	A	rs151139208	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr6:3324228G>A	ENST00000406686.3	-	4	921	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	SLC22A23_ENST00000380302.4_Silent_p.L27L|SLC22A23_ENST00000380298.2_Silent_p.L308L|SLC22A23_ENST00000433689.2_5'UTR|SLC22A23_ENST00000490273.1_Silent_p.L27L|SLC22A23_ENST00000436008.2_Silent_p.L308L	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	308					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GGGGGGCACAGCTCTATTCCT	0.602													G|||	9	0.00179712	0.0068	0.0	5008	,	,		19280	0.0		0.0	False		,,,				2504	0.0					ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(922-924)Ctg>Ttg		solute carrier family 22, member 23		G	,	22,4384	29.9+/-59.1	0,22,2181	64.0	62.0	63.0		922,79	4.5	1.0	6	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC22A23	NM_015482.1,NM_021945.5	,	0,22,6481	AA,AG,GG		0.0,0.4993,0.1692	,	308/687,27/406	3324228	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3324228G>A	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.922C>T	6.37:g.3324228G>A						SLC22A23_ENST00000380302.4_Silent_p.L27L|SLC22A23_ENST00000490273.1_Silent_p.L27L|SLC22A23_ENST00000433689.2_5'UTR|SLC22A23_ENST00000380298.2_Silent_p.L308L|SLC22A23_ENST00000406686.3_Silent_p.L308L	p.L308L			A1A5C7	S22AN_HUMAN			4	1384	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	308					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.922C>T	CCDS47363.1																																																																																				0.602	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		13	34	0	0	0	0.435327	0	13	34				
RRP1B	23076	broad.mit.edu	37	21	45096683	45096683	+	Silent	SNP	T	T	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr21:45096683T>C	ENST00000340648.4	+	8	801	c.684T>C	c.(682-684)ccT>ccC	p.P228P		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	228					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.P228P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CTTTTGTGCCTGAAGAGACGA	0.507																																						ENST00000340648.4																			1	Substitution - coding silent(1)	p.P228P(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(682-684)ccT>ccC		ribosomal RNA processing 1B							147.0	124.0	132.0					21																	45096683		2203	4300	6503	SO:0001819	synonymous_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45096683T>C	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.684T>C	21.37:g.45096683T>C							p.P228P	NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	8	801	+			228					Q8TBZ4	Silent	SNP	ENST00000340648.4	37	c.684T>C	CCDS33577.1																																																																																				0.507	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		3	119	0	0	0	0.115264	0	3	119				
GUCY2F	2986	broad.mit.edu	37	X	108638655	108638655	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chrX:108638655G>A	ENST00000218006.2	-	12	2630	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCTGGAGGGGCATGCTCAGG	0.458																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(2338-2340)gCc>gTc		guanylate cyclase 2F, retinal							191.0	170.0	177.0					X																	108638655		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108638655G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2339C>T	X.37:g.108638655G>A	ENSP00000218006:p.Ala780Val						p.A780V	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			12	2630	-			780			Protein kinase.		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2339C>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971089	0.74246	.	.	ENSG00000101890	ENST00000218006	D	0.83163	-1.69	4.14	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106321	0.64402	D	0.000005	T	0.81941	0.4929	L	0.55834	1.745	0.54753	D	0.999982	P	0.38048	0.616	P	0.48334	0.574	T	0.75850	-0.3172	10	0.21014	T	0.42	.	9.0738	0.36508	0.1123:0.0:0.8877:0.0	.	780	P51841	GUC2F_HUMAN	V	780	ENSP00000218006:A780V	ENSP00000218006:A780V	A	-	2	0	GUCY2F	108525311	1.000000	0.71417	0.177000	0.23020	0.986000	0.74619	6.013000	0.70776	1.093000	0.41377	0.506000	0.49869	GCC		0.458	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		4	191	0	0	0	0.217242	0	4	191				
BRD1	23774	broad.mit.edu	37	22	50217548	50217548	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr22:50217548A>G	ENST00000216267.8	-	1	904	c.418T>C	c.(418-420)Tac>Cac	p.Y140H	BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.Y140H|BRD1_ENST00000457780.2_Missense_Mutation_p.Y140H|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.Y140H|BRD1_ENST00000342989.5_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	140					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATGAACTTGTAGTACACAGGA	0.637																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(418-420)Tac>Cac		bromodomain containing 1							80.0	71.0	74.0					22																	50217548		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217548A>G	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.418T>C	22.37:g.50217548A>G	ENSP00000216267:p.Tyr140His					BRD1_ENST00000404034.1_Missense_Mutation_p.Y140H|BRD1_ENST00000457780.2_Missense_Mutation_p.Y140H|BRD1_ENST00000404760.1_Missense_Mutation_p.Y140H	p.Y140H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	904	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	140					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.418T>C	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200691	0.58126	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.83	4.83	0.62350	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.71324	-0.4627	9	.	.	.	.	14.4054	0.67079	1.0:0.0:0.0:0.0	.	140;140;140	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	H	140	ENSP00000216267:Y140H;ENSP00000384076:Y140H;ENSP00000385858:Y140H;ENSP00000410042:Y140H	.	Y	-	1	0	BRD1	48603552	1.000000	0.71417	0.998000	0.56505	0.513000	0.34164	8.667000	0.91153	1.804000	0.52760	0.445000	0.29226	TAC		0.637	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		3	135	0	0	0	0.150653	0	3	135				
ARHGAP35	2909	broad.mit.edu	37	19	47424644	47424644	+	Silent	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr19:47424644G>A	ENST00000404338.3	+	1	2712	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	904					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GTAGGGAACAGCTAACTGAGG	0.463																																						ENST00000404338.3																			0											c.(2710-2712)caG>caA		Rho GTPase activating protein 35							108.0	106.0	107.0					19																	47424644		1979	4164	6143	SO:0001819	synonymous_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424644G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2712G>A	19.37:g.47424644G>A							p.Q904Q	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2712	+			904					A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	c.2712G>A	CCDS46127.1																																																																																				0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		52	127	0	0	0	0.870114	0	52	127				
TFG	10342	broad.mit.edu	37	3	100432611	100432611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr3:100432611delA	ENST00000240851.4	+	2	422	c.82delA	c.(82-84)aatfs	p.N28fs	TFG_ENST00000490574.1_Frame_Shift_Del_p.N28fs|TFG_ENST00000476228.1_Frame_Shift_Del_p.N28fs|TFG_ENST00000418917.2_Frame_Shift_Del_p.N28fs	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	28					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TCCTATTCATAATGAAGATAT	0.373			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(82-84)atfs		TRK-fused gene							101.0	99.0	100.0					3																	100432611		2203	4300	6503	SO:0001589	frameshift_variant	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100432611delA	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.82delA	3.37:g.100432611delA	ENSP00000240851:p.Asn28fs					TFG_ENST00000490574.1_Frame_Shift_Del_p.N28fs|TFG_ENST00000476228.1_Frame_Shift_Del_p.N28fs|TFG_ENST00000418917.2_Frame_Shift_Del_p.N28fs	p.N28fs	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			2	422	+			28					D3DN49|G5E9V1|Q15656|Q969I2	Frame_Shift_Del	DEL	ENST00000240851.4	37	c.82delA	CCDS2939.1																																																																																				0.373	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		71	163						71	163	---	---	---	---
AC007128.1	0	broad.mit.edu	37	7	8363958	8363959	+	RNA	INS	-	-	AGAA	rs566489583|rs141819780|rs368673601|rs59361180|rs201387993		TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr7:8363958_8363959insAGAA	ENST00000424460.1	+	0	493				RP4-594A5.1_ENST00000435967.1_lincRNA																							aagaaagaaagagaaagaaaga	0.406																																						ENST00000424460.1																			0																																																			100505938							g.chr7:8363958_8363959insAGAA																													7.37:g.8363963_8363966dupAGAA						RP4-594A5.1_ENST00000435967.1_lincRNA								0	493	+									RNA	INS	ENST00000424460.1	37																																																																																						0.406	AC007128.1-001	KNOWN	basic|readthrough_transcript	antisense	antisense	OTTHUMT00000324590.2			8	8						8	8	---	---	---	---
