#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
NYNRIN	57523	broad.mit.edu	37	14	24884335	24884335	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr14:24884335A>C	ENST00000382554.3	+	9	3698	c.3380A>C	c.(3379-3381)gAc>gCc	p.D1127A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGAAGCCTGACTGGCAGTGG	0.627																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3379-3381)gAc>gCc		NYN domain and retroviral integrase containing							31.0	35.0	34.0					14																	24884335		2002	4164	6166	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884335A>C	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3380A>C	14.37:g.24884335A>C	ENSP00000371994:p.Asp1127Ala						p.D1127A	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3698	+			1127					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3380A>C	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530536	0.45073	.	.	ENSG00000205978	ENST00000382554	T	0.40225	1.04	4.61	3.44	0.39384	.	.	.	.	.	T	0.29491	0.0735	N	0.25380	0.74	0.26942	N	0.966228	B	0.17667	0.023	B	0.15484	0.013	T	0.20739	-1.0266	9	0.54805	T	0.06	.	8.1041	0.30874	0.7947:0.2053:0.0:0.0	.	1127	Q9P2P1	NYNRI_HUMAN	A	1127	ENSP00000371994:D1127A	ENSP00000371994:D1127A	D	+	2	0	NYNRIN	23954175	0.764000	0.28473	0.999000	0.59377	0.964000	0.63967	1.122000	0.31295	0.768000	0.33290	0.459000	0.35465	GAC		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			5	31	0	0	0	1	0	5	31				
MXRA5	25878	broad.mit.edu	37	X	3228257	3228257	+	Missense_Mutation	SNP	C	C	T	rs143264543	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:3228257C>T	ENST00000217939.6	-	7	8141	c.7987G>A	c.(7987-7989)Ggg>Agg	p.G2663R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2663	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)		p.G2663R(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCCCAGCCCCGGGAGGGGTG	0.592																																						ENST00000217939.6																			4	Substitution - Missense(4)	p.G2663R(4)	large_intestine(2)|prostate(2)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7987-7989)Ggg>Agg		matrix-remodelling associated 5		C	ARG/GLY	1,3834		0,1,0,1631,571	58.0	56.0	57.0		7987	3.6	0.0	X	dbSNP_134	57	1,6726		0,0,1,2428,1870	no	missense	MXRA5	NM_015419.3	125	0,1,1,4059,2441	TT,TC,T,CC,C		0.0149,0.0261,0.0189	benign	2663/2829	3228257	2,10560	2203	4299	6502	SO:0001583	missense	25878					extracellular region		g.chrX:3228257C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7987G>A	X.37:g.3228257C>T	ENSP00000217939:p.Gly2663Arg						p.G2663R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8141	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2663			Ig-like C2-type 11.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7987G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	3.724	-0.057000	0.07317	2.61E-4	1.49E-4	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.37752	1.18	4.47	3.6	0.41247	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40818	U	0.001009	T	0.49745	0.1575	H	0.94345	3.525	0.09310	N	1	B	0.31227	0.314	B	0.25140	0.058	T	0.53208	-0.8471	10	0.59425	D	0.04	.	14.3756	0.66874	0.0:0.6168:0.3831:0.0	.	2663	Q9NR99	MXRA5_HUMAN	R	2663	ENSP00000217939:G2663R	ENSP00000217939:G2663R	G	-	1	0	MXRA5	3238257	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.390000	0.20768	0.713000	0.32060	0.597000	0.82753	GGG		0.592	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	27	0	0	0	1	0	5	27				
ZNF646	9726	broad.mit.edu	37	16	31090194	31090194	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:31090194G>A	ENST00000394979.2	+	1	2972	c.2549G>A	c.(2548-2550)tGc>tAc	p.C850Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C850Y			O15015	ZN646_HUMAN	zinc finger protein 646	850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATCTATCAGTGCTCCCTCTGC	0.632																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2548-2550)tGc>tAc		zinc finger protein 646							80.0	86.0	84.0					16																	31090194		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090194G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2549G>A	16.37:g.31090194G>A	ENSP00000378429:p.Cys850Tyr					ZNF646_ENST00000300850.5_Missense_Mutation_p.C850Y	p.C850Y			O15015	ZN646_HUMAN			1	2972	+			850					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.2549G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.275335	0.80580	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	D;D	0.99494	-6.01;-6.01	5.1	5.1	0.69264	.	.	.	.	.	D	0.99684	0.9881	H	0.95079	3.62	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97549	1.0091	9	0.62326	D	0.03	-14.6316	17.2888	0.87150	0.0:0.0:1.0:0.0	.	850	O15015-2	.	Y	850	ENSP00000300850:C850Y;ENSP00000378429:C850Y	ENSP00000300850:C850Y	C	+	2	0	ZNF646	30997695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.700000	0.68318	2.380000	0.81148	0.563000	0.77884	TGC		0.632	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		14	70	0	0	0	1	0	14	70				
MARCH1	55016	broad.mit.edu	37	4	164534519	164534519	+	Silent	SNP	A	A	G			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr4:164534519A>G	ENST00000503008.1	-	5	1165	c.189T>C	c.(187-189)gcT>gcC	p.A63A	MARCH1_ENST00000514618.1_Silent_p.A63A|MARCH1_ENST00000274056.7_Silent_p.A63A|MARCH1_ENST00000339875.5_Silent_p.A46A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	63	Responsible for low stability. {ECO:0000250}.				antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTCCTGGGAGCTGTCCCTG	0.413																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(187-189)gcT>gcC		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							117.0	111.0	113.0					4																	164534519		2203	4300	6503	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164534519A>G	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.189T>C	4.37:g.164534519A>G						MARCH1_ENST00000514618.1_Silent_p.A63A|MARCH1_ENST00000274056.7_Silent_p.A63A|MARCH1_ENST00000339875.5_Silent_p.A46A	p.A63A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			5	1165	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	63			Responsible for low stability (By similarity).		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.189T>C	CCDS54814.1																																																																																				0.413	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		9	79	0	0	0	1	0	9	79				
MPP3	4356	broad.mit.edu	37	17	41879198	41879198	+	Silent	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:41879198C>T	ENST00000398389.4	-	20	1794	c.1629G>A	c.(1627-1629)cgG>cgA	p.R543R	MPP3_ENST00000398393.1_Silent_p.R568R	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	543	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCCGTAATGCCGGTCTATGA	0.547																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1702-1704)cgG>cgA		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)							85.0	80.0	82.0					17																	41879198		1919	4141	6060	SO:0001819	synonymous_variant	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41879198C>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1629G>A	17.37:g.41879198C>T						MPP3_ENST00000398389.4_Silent_p.R543R	p.R568R			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	18	1964	-		Breast(137;0.00394)	543			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37	c.1704G>A	CCDS42344.1																																																																																				0.547	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		4	91	0	0	0	1	0	4	91				
ZNF335	63925	broad.mit.edu	37	20	44588048	44588048	+	Missense_Mutation	SNP	T	T	G	rs201140618		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr20:44588048T>G	ENST00000322927.2	-	15	2145	c.2045A>C	c.(2044-2046)tAc>tCc	p.Y682S	ZNF335_ENST00000426788.1_Missense_Mutation_p.Y527S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	682					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAAGTGGCAGTACTCACAGGC	0.617																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2044-2046)tAc>tCc		zinc finger protein 335							49.0	36.0	40.0					20																	44588048		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44588048T>G	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2045A>C	20.37:g.44588048T>G	ENSP00000325326:p.Tyr682Ser					ZNF335_ENST00000426788.1_Missense_Mutation_p.Y527S	p.Y682S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			15	2145	-		Myeloproliferative disorder(115;0.0122)	682					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2045A>C	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036804	0.54896	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.01599	4.74;4.74	5.02	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.189300	0.46758	D	0.000264	T	0.02083	0.0065	L	0.59436	1.845	0.35102	D	0.765299	P;P	0.37864	0.61;0.475	B;B	0.32211	0.142;0.067	T	0.53443	-0.8438	10	0.21540	T	0.41	-33.3965	9.4357	0.38637	0.2029:0.0:0.0:0.7971	.	527;682	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	S	682;459;527	ENSP00000325326:Y682S;ENSP00000397098:Y527S	ENSP00000243961:Y459S	Y	-	2	0	ZNF335	44021455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.177000	0.50871	2.107000	0.64212	0.459000	0.35465	TAC		0.617	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		3	27	0	0	0	1	0	3	27				
NALCN	259232	broad.mit.edu	37	13	102029346	102029346	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr13:102029346C>T	ENST00000251127.6	-	5	518	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	146					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGTGGCCGTGGAATCCG	0.398																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(436-438)cGg>cAg		sodium leak channel, non-selective							74.0	73.0	74.0					13																	102029346		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029346C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.437G>A	13.37:g.102029346C>T	ENSP00000251127:p.Arg146Gln					NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q	p.R146Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			5	518	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		146					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.437G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650370	0.87958	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98617	-5.03;-5.03;-5.03	4.92	4.92	0.64577	Ion transport (1);	0.070386	0.64402	D	0.000020	D	0.99375	0.9780	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98660	1.0683	10	0.87932	D	0	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	146;146	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	146	ENSP00000251127:R146Q;ENSP00000365367:R146Q;ENSP00000365373:R146Q	ENSP00000251127:R146Q	R	-	2	0	NALCN	100827347	1.000000	0.71417	0.998000	0.56505	0.585000	0.36419	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	CGG		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		12	51	0	0	0	1	0	12	51				
LEPR	3953	broad.mit.edu	37	1	66067276	66067276	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:66067276C>T	ENST00000349533.6	+	9	1381	c.1196C>T	c.(1195-1197)aCc>aTc	p.T399I	LEPR_ENST00000371059.3_Missense_Mutation_p.T399I|LEPR_ENST00000344610.8_Missense_Mutation_p.T399I|LEPR_ENST00000371058.1_Missense_Mutation_p.T399I|LEPR_ENST00000371060.3_Missense_Mutation_p.T399I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTGAATGAAACCAAACCTCGA	0.363																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(1195-1197)aCc>aTc		leptin receptor							102.0	99.0	100.0					1																	66067276		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067276C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1196C>T	1.37:g.66067276C>T	ENSP00000330393:p.Thr399Ile					LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T399I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.T399I|LEPR_ENST00000371059.3_Missense_Mutation_p.T399I|LEPR_ENST00000371060.3_Missense_Mutation_p.T399I	p.T399I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	9	1381	+			399			Ig-like.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1196C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880196	0.51801	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.98	4.98	0.66077	Immunoglobulin-like (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.190901	0.45606	D	0.000359	D	0.83778	0.5328	M	0.72118	2.19	0.80722	D	1	D;P;P	0.76494	0.999;0.811;0.859	D;P;P	0.76575	0.988;0.551;0.58	D	0.85519	0.1202	10	0.87932	D	0	-14.1841	12.8212	0.57694	0.0:0.9217:0.0:0.0783	.	399;399;399	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	I	399	ENSP00000340884:T399I;ENSP00000330393:T399I;ENSP00000360099:T399I;ENSP00000360098:T399I;ENSP00000360097:T399I	ENSP00000340884:T399I	T	+	2	0	LEPR	65839864	0.986000	0.35501	0.989000	0.46669	0.620000	0.37586	2.098000	0.41757	2.582000	0.87167	0.655000	0.94253	ACC		0.363	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	59	0	0	0	1	0	4	59				
NFATC1	4772	broad.mit.edu	37	18	77170874	77170874	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr18:77170874C>A	ENST00000427363.2	+	2	599	c.599C>A	c.(598-600)cCc>cAc	p.P200H	NFATC1_ENST00000542384.1_Missense_Mutation_p.P200H|NFATC1_ENST00000591814.1_Missense_Mutation_p.P200H|NFATC1_ENST00000329101.4_Missense_Mutation_p.P187H|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.P200H|NFATC1_ENST00000318065.5_Missense_Mutation_p.P187H|NFATC1_ENST00000592223.1_Missense_Mutation_p.P187H|NFATC1_ENST00000586434.1_Missense_Mutation_p.P187H|NFATC1_ENST00000587635.1_Missense_Mutation_p.P200H|NFATC1_ENST00000397790.2_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	200	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TACGCGTCCCCCCAGACGTCG	0.687																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(598-600)cCc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							67.0	71.0	70.0					18																	77170874		2202	4299	6501	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170874C>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.599C>A	18.37:g.77170874C>A	ENSP00000389377:p.Pro200His					NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.P187H|NFATC1_ENST00000542384.1_Missense_Mutation_p.P200H|NFATC1_ENST00000427363.2_Missense_Mutation_p.P200H|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P200H|NFATC1_ENST00000329101.4_Missense_Mutation_p.P187H|NFATC1_ENST00000592223.1_Missense_Mutation_p.P187H|NFATC1_ENST00000591814.1_Missense_Mutation_p.P200H|NFATC1_ENST00000586434.1_Missense_Mutation_p.P187H	p.P200H	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	968	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	200			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.599C>A		.	.	.	.	.	.	.	.	.	.	C	17.72	3.458827	0.63401	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.76060	-0.99;-0.99;-0.99	4.78	3.9	0.45041	.	0.054440	0.85682	D	0.000000	D	0.84183	0.5416	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.85805	0.1376	10	0.87932	D	0	-34.684	12.9292	0.58276	0.0:0.9214:0.0:0.0786	.	187;187;200;200;200;187;200	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	H	200;200;200;187;187;164	ENSP00000253506:P200H;ENSP00000442435:P200H;ENSP00000327850:P187H	ENSP00000253506:P200H	P	+	2	0	NFATC1	75271862	1.000000	0.71417	0.987000	0.45799	0.566000	0.35808	7.371000	0.79600	1.214000	0.43395	0.561000	0.74099	CCC		0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		8	88	1	0	0.0477658	1	0.0477658	8	88				
SLC35F3	148641	broad.mit.edu	37	1	234452357	234452357	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:234452357G>A	ENST00000366617.3	+	4	859	c.631G>A	c.(631-633)Gcc>Acc	p.A211T	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A280T			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	211					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.A280T(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GATTGTGGCCGCCATCCTCGC	0.582																																						ENST00000366618.3																			2	Substitution - Missense(2)	p.A280T(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(838-840)Gcc>Acc		solute carrier family 35, member F3							290.0	288.0	289.0					1																	234452357		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234452357G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.631G>A	1.37:g.234452357G>A	ENSP00000355576:p.Ala211Thr					SLC35F3_ENST00000366617.3_Missense_Mutation_p.A211T	p.A280T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		5	983	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	211					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.647260	0.96714	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.63096	-0.02;-0.02	5.73	5.73	0.89815	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74166	-0.3753	10	0.62326	D	0.03	-24.8442	19.8785	0.96886	0.0:0.0:1.0:0.0	.	211;280	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	T	280;211	ENSP00000355577:A280T;ENSP00000355576:A211T	ENSP00000355576:A211T	A	+	1	0	SLC35F3	232518980	1.000000	0.71417	0.985000	0.45067	0.908000	0.53690	9.860000	0.99555	2.695000	0.91970	0.655000	0.94253	GCC		0.582	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		15	403	0	0	0	1	0	15	403				
PCDHAC2	56134	broad.mit.edu	37	5	140346986	140346986	+	Missense_Mutation	SNP	G	G	A	rs374310490		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:140346986G>A	ENST00000289269.5	+	1	1167	c.635G>A	c.(634-636)cGt>cAt	p.R212H	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGTAAGGGCCTA	0.617																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(634-636)cGt>cAt									42.0	37.0	38.0					5																	140346986		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346986G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.635G>A	5.37:g.140346986G>A	ENSP00000289269:p.Arg212His					PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	p.R212H	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1167	+			212			Cadherin 2.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.635G>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732447	0.48939	.	.	ENSG00000243232	ENST00000289269	T	0.53206	0.63	5.44	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.000000	0.39146	N	0.001448	T	0.43478	0.1249	N	0.25485	0.75	0.35388	D	0.790506	P;D	0.61080	0.471;0.989	B;P	0.55749	0.097;0.783	T	0.57329	-0.7830	10	0.87932	D	0	.	4.4777	0.11752	0.1708:0.0:0.5265:0.3027	.	212;212	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	212	ENSP00000289269:R212H	ENSP00000289269:R212H	R	+	2	0	PCDHAC2	140327170	0.976000	0.34144	0.863000	0.33907	0.828000	0.46876	5.132000	0.64758	1.294000	0.44707	0.561000	0.74099	CGT		0.617	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		3	16	0	0	0	1	0	3	16				
TNPO2	30000	broad.mit.edu	37	19	12826131	12826131	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr19:12826131C>T	ENST00000592287.1	-	7	682	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	TNPO2_ENST00000441499.1_Missense_Mutation_p.A192T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A192T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A192T|TNPO2_ENST00000425528.1_Missense_Mutation_p.A192T|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Missense_Mutation_p.A192T	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	192					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGCGATGGCGTGGGACCTG	0.667																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(574-576)Gcc>Acc		transportin 2							31.0	35.0	34.0					19																	12826131		2009	4165	6174	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12826131C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.574G>A	19.37:g.12826131C>T	ENSP00000468434:p.Ala192Thr					TNPO2_ENST00000588216.1_Missense_Mutation_p.A192T|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000356861.5_Missense_Mutation_p.A192T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A192T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A192T|TNPO2_ENST00000592287.1_Missense_Mutation_p.A192T	p.A192T			O14787	TNPO2_HUMAN			8	931	-			192					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.574G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	34	5.411946	0.96072	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87241	0.6128	M	0.93016	3.37	0.80722	D	1	D;D	0.67145	0.996;0.986	P;P	0.54889	0.763;0.515	D	0.90263	0.4302	10	0.87932	D	0	-0.0039	18.4471	0.90688	0.0:1.0:0.0:0.0	.	356;192	Q4LE60;O14787	.;TNPO2_HUMAN	T	356;192;192;192;192;192;192	ENSP00000407182:A192T;ENSP00000389648:A192T;ENSP00000397379:A192T;ENSP00000349321:A192T	ENSP00000349321:A192T	A	-	1	0	TNPO2	12687131	1.000000	0.71417	0.990000	0.47175	0.849000	0.48306	7.202000	0.77856	2.655000	0.90218	0.555000	0.69702	GCC		0.667	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		3	29	0	0	0	1	0	3	29				
KMT2D	8085	broad.mit.edu	37	12	49428638	49428638	+	Missense_Mutation	SNP	C	C	A	rs35087111	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr12:49428638C>A	ENST00000301067.7	-	35	10311	c.10312G>T	c.(10312-10314)Gtg>Ttg	p.V3438L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3438	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I3165fs*13(1)									TGAGCCATCACTTTCTTGATG	0.512																																						ENST00000301067.7																			1	Deletion - Frameshift(1)	p.I3165fs*13(1)	haematopoietic_and_lymphoid_tissue(1)								c.(10312-10314)Gtg>Ttg		lysine (K)-specific methyltransferase 2D							100.0	101.0	101.0					12																	49428638		1984	4157	6141	SO:0001583	missense	8085							g.chr12:49428638C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10312G>T	12.37:g.49428638C>A	ENSP00000301067:p.Val3438Leu						p.V3438L	NM_003482.3	NP_003473.3					35	10311	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10312G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316526	0.60524	.	.	ENSG00000167548	ENST00000301067	D	0.88354	-2.37	5.11	5.11	0.69529	.	0.000000	0.34906	N	0.003590	D	0.93041	0.7785	L	0.52905	1.665	0.53688	D	0.999979	D	0.76494	0.999	D	0.76071	0.987	D	0.93657	0.6978	10	0.87932	D	0	.	17.6881	0.88261	0.0:1.0:0.0:0.0	.	3438	O14686	MLL2_HUMAN	L	3438	ENSP00000301067:V3438L	ENSP00000301067:V3438L	V	-	1	0	MLL2	47714905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.768000	0.85345	2.560000	0.86352	0.655000	0.94253	GTG		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	59	1	0	5.9392e-07	1	6.54835e-07	4	59				
SYT9	143425	broad.mit.edu	37	11	7324413	7324413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:7324413G>T	ENST00000318881.6	+	2	526	c.289G>T	c.(289-291)Gag>Tag	p.E97*	SYT9_ENST00000396716.2_Nonsense_Mutation_p.E65*	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	97					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAACAACCAGGAGCCCCTTAA	0.547																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(289-291)Gag>Tag		synaptotagmin IX							178.0	163.0	168.0					11																	7324413		2201	4296	6497	SO:0001587	stop_gained	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324413G>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.289G>T	11.37:g.7324413G>T	ENSP00000324419:p.Glu97*					SYT9_ENST00000396716.2_Nonsense_Mutation_p.E65*	p.E97*	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	526	+			97						Nonsense_Mutation	SNP	ENST00000318881.6	37	c.289G>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510692	0.96386	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	17.8445	0.88725	0.0:0.0:1.0:0.0	.	.	.	.	X	65;97	.	ENSP00000324419:E97X	E	+	1	0	SYT9	7280989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.692000	0.91284	2.808000	0.96608	0.655000	0.94253	GAG		0.547	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		5	67	1	0	0.000602214	1	0.000631591	5	67				
RPUSD1	113000	broad.mit.edu	37	16	836244	836244	+	Silent	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:836244G>A	ENST00000561734.1	-	5	888	c.645C>T	c.(643-645)atC>atT	p.I215I	RPUSD1_ENST00000567114.1_Silent_p.I86I|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.I215I|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|CHTF18_ENST00000317063.6_5'Flank|MSLNL_ENST00000442466.1_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	215					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGTCCGTGGGGATGCGCAGGT	0.672																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(643-645)atC>atT		RNA pseudouridylate synthase domain containing 1							80.0	89.0	86.0					16																	836244		2200	4300	6500	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836244G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.645C>T	16.37:g.836244G>A						RPUSD1_ENST00000007264.2_Silent_p.I215I|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.I86I	p.I215I			Q9UJJ7	RUSD1_HUMAN			5	888	-		Hepatocellular(780;0.00335)	215					D3DU66	Silent	SNP	ENST00000561734.1	37	c.645C>T	CCDS10426.1																																																																																				0.672	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		11	72	0	0	0	1	0	11	72				
PTPN5	84867	broad.mit.edu	37	11	18765711	18765711	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:18765711C>T	ENST00000358540.2	-	4	563	c.133G>A	c.(133-135)Gag>Aag	p.E45K	PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000396168.1_Missense_Mutation_p.E21K|PTPN5_ENST00000396170.1_Missense_Mutation_p.E45K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Missense_Mutation_p.E45K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E45K	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	45					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCTTCAGCCTCGTCCAGTGCC	0.672																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(133-135)Gag>Aag		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							89.0	89.0	89.0					11																	18765711		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18765711C>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.133G>A	11.37:g.18765711C>T	ENSP00000351342:p.Glu45Lys					PTPN5_ENST00000396167.2_Missense_Mutation_p.E45K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E45K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.E21K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E45K	p.E45K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			4	1397	-			45					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.133G>A	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	8.518	0.868176	0.17250	.	.	ENSG00000110786	ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T	0.04083	3.75;3.71;3.75;3.71;3.76	4.76	-2.44	0.06502	.	0.226541	0.30593	N	0.009288	T	0.02767	0.0083	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35450	-0.9788	10	0.48119	T	0.1	.	5.5671	0.17177	0.0:0.3186:0.312:0.3694	.	45;45	P54829;B3KXG7	PTN5_HUMAN;.	K	45;45;45;45;21	ENSP00000351342:E45K;ENSP00000379473:E45K;ENSP00000379474:E45K;ENSP00000379470:E45K;ENSP00000379471:E21K	ENSP00000351342:E45K	E	-	1	0	PTPN5	18722287	0.724000	0.28038	0.906000	0.35671	0.017000	0.09413	-0.416000	0.07097	-0.334000	0.08463	-0.424000	0.05967	GAG		0.672	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		12	99	0	0	0	1	0	12	99				
MED11	400569	broad.mit.edu	37	17	4635145	4635145	+	Missense_Mutation	SNP	G	G	A	rs559815092		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:4635145G>A	ENST00000293777.5	+	2	216	c.160G>A	c.(160-162)Gct>Act	p.A54T	CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000573708.1_Missense_Mutation_p.A54T|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.A54T	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	54						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						GGCCTTCACCGCTTCAGTGCA	0.627											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		12439	0.0		0.0	False		,,,				2504	0.001					ENST00000293777.5																			0				lung(2)|ovary(2)	4						c.(160-162)Gct>Act		mediator complex subunit 11							35.0	39.0	37.0					17																	4635145		2203	4300	6503	SO:0001583	missense	400569				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:4635145G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.160G>A	17.37:g.4635145G>A	ENSP00000293777:p.Ala54Thr		OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	MED11_ENST00000573708.1_Missense_Mutation_p.A54T|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.A54T	p.A54T	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN			2	216	+			54					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.160G>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413674	0.62511	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.79	3.65	0.41850	.	0.312617	0.28952	N	0.013617	T	0.18635	0.0447	N	0.04508	-0.205	0.29040	N	0.885178	B	0.12630	0.006	B	0.04013	0.001	T	0.12528	-1.0544	9	0.21014	T	0.42	-0.2087	8.7237	0.34456	0.0862:0.0:0.7374:0.1763	.	54	Q9P086	MED11_HUMAN	T	54	.	ENSP00000293777:A54T	A	+	1	0	MED11	4581894	0.718000	0.27976	0.984000	0.44739	0.960000	0.62799	0.888000	0.28268	1.411000	0.46957	0.655000	0.94253	GCT		0.627	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		5	32	0	0	0	1	0	5	32				
RRP12	23223	broad.mit.edu	37	10	99133362	99133362	+	Missense_Mutation	SNP	G	G	A	rs187180200	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr10:99133362G>A	ENST00000370992.4	-	17	2107	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	RRP12_ENST00000414986.1_Missense_Mutation_p.R605C|RRP12_ENST00000315563.6_Missense_Mutation_p.R566C|RRP12_ENST00000479481.1_5'Flank|RRP12_ENST00000536831.1_Missense_Mutation_p.R384C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	666						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ATGAGGGTGCGCAGGGCCTGG	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		20420	0.001		0.001	False		,,,				2504	0.0					ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1996-1998)Cgc>Tgc		ribosomal RNA processing 12 homolog (S. cerevisiae)							44.0	43.0	44.0					10																	99133362		2203	4299	6502	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99133362G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1996C>T	10.37:g.99133362G>A	ENSP00000360031:p.Arg666Cys					RRP12_ENST00000315563.6_Missense_Mutation_p.R566C|RRP12_ENST00000536831.1_Missense_Mutation_p.R384C|RRP12_ENST00000414986.1_Missense_Mutation_p.R605C	p.R666C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	17	2107	-		Colorectal(252;0.162)	666					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.1996C>T	CCDS7457.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.3	4.993719	0.93167	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.71	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);Uncharacterised domain NUC173 (1);	0.047718	0.85682	D	0.000000	D	0.84165	0.5412	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.954;0.983;0.997	D	0.86677	0.1914	9	.	.	.	-20.2681	17.821	0.88650	0.0:0.0:1.0:0.0	.	605;566;384;666	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	C	666;566;605;384	ENSP00000360031:R666C;ENSP00000324315:R566C;ENSP00000414863:R605C;ENSP00000446184:R384C	.	R	-	1	0	RRP12	99123352	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.294000	0.96088	2.440000	0.82611	0.462000	0.41574	CGC		0.667	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		3	29	0	0	0	1	0	3	29				
RYR1	6261	broad.mit.edu	37	19	38976472	38976472	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr19:38976472G>A	ENST00000359596.3	+	34	5177	c.5177G>A	c.(5176-5178)cGc>cAc	p.R1726H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1726H|RYR1_ENST00000355481.4_Missense_Mutation_p.R1726H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1726	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCCGCAGCCGCCGCTCCATG	0.647																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5176-5178)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						66.0	68.0	67.0					19																	38976472		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976472G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5177G>A	19.37:g.38976472G>A	ENSP00000352608:p.Arg1726His					RYR1_ENST00000360985.3_Missense_Mutation_p.R1726H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1726H	p.R1726H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5308	+	all_cancers(60;7.91e-06)		1726			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5177G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297450	0.60086	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74106	-0.81;-0.81;-0.81	3.77	3.77	0.43336	.	0.000000	0.64402	U	0.000003	D	0.85168	0.5635	M	0.83483	2.645	0.43385	D	0.995496	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.966	D	0.86664	0.1906	10	0.72032	D	0.01	.	10.5817	0.45259	0.0986:0.0:0.9014:0.0	.	1726;1726	P21817-2;P21817	.;RYR1_HUMAN	H	1726	ENSP00000352608:R1726H;ENSP00000347667:R1726H;ENSP00000354254:R1726H	ENSP00000347667:R1726H	R	+	2	0	RYR1	43668312	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	0.767000	0.26575	1.934000	0.56057	0.585000	0.79938	CGC		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	80	0	0	0	1	0	8	80				
FAM135B	51059	broad.mit.edu	37	8	139163880	139163880	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr8:139163880G>C	ENST00000395297.1	-	13	3008	c.2838C>G	c.(2836-2838)atC>atG	p.I946M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	946										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTTCCTGTTGATGGCATCAG	0.502										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2836-2838)atC>atG		family with sequence similarity 135, member B							150.0	124.0	133.0					8																	139163880		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163880G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2838C>G	8.37:g.139163880G>C	ENSP00000378710:p.Ile946Met	HNSCC(54;0.14)					p.I946M	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3008	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		946					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2838C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	9.714	1.157908	0.21454	.	.	ENSG00000147724	ENST00000395297	T	0.16597	2.33	5.24	-1.1	0.09872	.	1.992990	0.01657	N	0.024886	T	0.09730	0.0239	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.0	B;B;B	0.12837	0.008;0.005;0.001	T	0.21211	-1.0252	10	0.33940	T	0.23	1.6968	2.2071	0.03938	0.4691:0.1281:0.2721:0.1307	.	946;946;946	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	M	946	ENSP00000378710:I946M	ENSP00000276737:I946M	I	-	3	3	FAM135B	139233062	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.325000	0.07976	-0.280000	0.09154	-0.165000	0.13383	ATC		0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		15	150	0	0	0	1	0	15	150				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	29	0	0	0	1	0	3	29				
PIP4K2B	8396	broad.mit.edu	37	17	36936728	36936728	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:36936728T>C	ENST00000269554.3	-	4	964	c.484A>G	c.(484-486)Aac>Gac	p.N162D	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	162	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TTTAAGATGTTGTGCATCTCC	0.577																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(484-486)Aac>Gac		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							89.0	80.0	83.0					17																	36936728		2203	4300	6503	SO:0001583	missense	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36936728T>C	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.484A>G	17.37:g.36936728T>C	ENSP00000269554:p.Asn162Asp					PIP4K2B_ENST00000311500.6_5'UTR	p.N162D	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			4	964	-			162			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.484A>G	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	33	5.239871	0.95240	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.29142	1.58	5.21	5.21	0.72293	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.087784	0.85682	D	0.000000	T	0.41351	0.1155	L	0.52905	1.665	0.80722	D	1	B;B;P	0.42993	0.285;0.242;0.797	B;B;P	0.49999	0.302;0.341;0.628	T	0.23583	-1.0184	10	0.51188	T	0.08	-34.7467	14.0446	0.64698	0.0:0.0:0.0:1.0	.	162;162;162	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	D	162	ENSP00000269554:N162D	ENSP00000269554:N162D	N	-	1	0	PIP4K2B	34190254	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.819000	0.69243	2.193000	0.70182	0.459000	0.35465	AAC		0.577	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		7	81	0	0	0	1	0	7	81				
RFWD2	64326	broad.mit.edu	37	1	175996718	175996718	+	Silent	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:175996718G>A	ENST00000367669.3	-	15	2233	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	RFWD2_ENST00000308769.8_Silent_p.F549F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	573					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGCACAGCCGAAAGCCAAAT	0.398																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1717-1719)ttC>ttT		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							115.0	103.0	107.0					1																	175996718		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175996718G>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1719C>T	1.37:g.175996718G>A						RFWD2_ENST00000308769.8_Silent_p.F549F	p.F573F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			15	2233	-			573					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1719C>T	CCDS30944.1																																																																																				0.398	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		6	54	0	0	0	1	0	6	54				
OR10C1	442194	broad.mit.edu	37	6	29408070	29408070	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr6:29408070G>A	ENST00000444197.2	+	1	988	c.278G>A	c.(277-279)cGc>cAc	p.R93H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACATCTCTCGCTCTGGATGT	0.587																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(277-279)cGc>cAc		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							111.0	107.0	108.0					6																	29408070		1508	2708	4216	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408070G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.278G>A	6.37:g.29408070G>A	ENSP00000419119:p.Arg93His					OR11A1_ENST00000377149.1_Intron	p.R93H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	988	+			93					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.278G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884573	0.33255	.	.	ENSG00000206474	ENST00000444197	T	0.00397	7.57	3.32	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33591	U	0.004760	T	0.00109	0.0003	N	0.11927	0.2	0.09310	N	1	D	0.69078	0.997	D	0.66602	0.945	T	0.49380	-0.8946	10	0.87932	D	0	.	2.9417	0.05833	0.3922:0.0:0.413:0.1949	.	93	Q96KK4	O10C1_HUMAN	H	93	ENSP00000419119:R93H	ENSP00000419119:R93H	R	+	2	0	OR10C1	29516049	0.000000	0.05858	0.074000	0.20217	0.554000	0.35429	-0.336000	0.07863	0.234000	0.21139	0.196000	0.17591	CGC		0.587	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			6	61	0	0	0	1	0	6	61				
NGF	4803	broad.mit.edu	37	1	115828942	115828942	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:115828942C>A	ENST00000369512.2	-	3	643	c.475G>T	c.(475-477)Gtg>Ttg	p.V159L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	159					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTCCCAACACCATCACCTCC	0.537																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(475-477)Gtg>Ttg		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						159.0	139.0	146.0					1																	115828942		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828942C>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.475G>T	1.37:g.115828942C>A	ENSP00000358525:p.Val159Leu					RP4-663N10.1_ENST00000425449.1_RNA	p.V159L	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	643	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	159					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.475G>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654711	0.88056	.	.	ENSG00000134259	ENST00000369512	T	0.73258	-0.73	5.02	5.02	0.67125	Nerve growth factor-related (4);	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	L	0.54323	1.7	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	T	0.80248	-0.1461	10	0.72032	D	0.01	-14.9137	17.4573	0.87610	0.0:1.0:0.0:0.0	.	159	P01138	NGF_HUMAN	L	159	ENSP00000358525:V159L	ENSP00000358525:V159L	V	-	1	0	NGF	115630465	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.731000	0.84895	2.483000	0.83821	0.313000	0.20887	GTG		0.537	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		7	84	1	0	8.12818e-05	1	8.7378e-05	7	84				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	106	0	0	0	1	0	4	106				
OR10C1	442194	broad.mit.edu	37	6	29408019	29408019	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr6:29408019C>T	ENST00000444197.2	+	1	937	c.227C>T	c.(226-228)aCg>aTg	p.T76M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGTCTGTCACGGTCCCCCTG	0.577																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(226-228)aCg>aTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							161.0	143.0	150.0					6																	29408019		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408019C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.227C>T	6.37:g.29408019C>T	ENSP00000419119:p.Thr76Met					OR11A1_ENST00000377149.1_Intron	p.T76M	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	937	+			76					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.227C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728727	0.15507	.	.	ENSG00000206474	ENST00000444197	T	0.00882	5.58	3.32	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001132	T	0.01940	0.0061	M	0.88570	2.965	0.09310	N	0.999996	D	0.69078	0.997	P	0.61722	0.893	T	0.38090	-0.9677	10	0.52906	T	0.07	.	6.6195	0.22796	0.0:0.8667:0.0:0.1333	.	76	Q96KK4	O10C1_HUMAN	M	76	ENSP00000419119:T76M	ENSP00000419119:T76M	T	+	2	0	OR10C1	29515998	0.000000	0.05858	0.287000	0.24848	0.043000	0.13939	-0.103000	0.10940	1.858000	0.53909	0.196000	0.17591	ACG		0.577	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			12	85	0	0	0	1	0	12	85				
PCDHB7	56129	broad.mit.edu	37	5	140553130	140553130	+	Silent	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:140553130C>T	ENST00000231137.3	+	1	888	c.714C>T	c.(712-714)aaC>aaT	p.N238N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N238N(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATGACAACGCCCCTGATT	0.542																																						ENST00000231137.3																			3	Substitution - coding silent(3)	p.N238N(3)	prostate(2)|endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(712-714)aaC>aaT									60.0	63.0	62.0					5																	140553130		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553130C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.714C>T	5.37:g.140553130C>T							p.N238N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	888	+			238			Cadherin 2.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.714C>T	CCDS4249.1																																																																																				0.542	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	69	0	0	0	1	0	7	69				
GABRP	2568	broad.mit.edu	37	5	170236677	170236677	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:170236677G>A	ENST00000518525.1	+	10	1402	c.938G>A	c.(937-939)tGc>tAc	p.C313Y	GABRP_ENST00000265294.4_Missense_Mutation_p.C313Y|GABRP_ENST00000519598.1_Missense_Mutation_p.C313Y|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	313					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGGGATCTGCTTTAGCTTT	0.502											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(937-939)tGc>tAc		gamma-aminobutyric acid (GABA) A receptor, pi							319.0	272.0	288.0					5																	170236677		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170236677G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.938G>A	5.37:g.170236677G>A	ENSP00000430100:p.Cys313Tyr		OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1883	GABRP_ENST00000265294.4_Missense_Mutation_p.C313Y|GABRP_ENST00000519598.1_Missense_Mutation_p.C313Y|GABRP_ENST00000519385.1_Intron	p.C313Y			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1402	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	313					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.938G>A	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724236	0.89298	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.87966	-2.32;-2.32;-2.32	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96900	0.9659	10	0.87932	D	0	.	18.75	0.91810	0.0:0.0:1.0:0.0	.	313	O00591	GBRP_HUMAN	Y	313	ENSP00000430100:C313Y;ENSP00000265294:C313Y;ENSP00000430772:C313Y	ENSP00000265294:C313Y	C	+	2	0	GABRP	170169255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.529000	0.85273	0.655000	0.94253	TGC		0.502	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		19	90	0	0	0	1	0	19	90				
LDLRAP1	26119	broad.mit.edu	37	1	25889581	25889581	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:25889581G>A	ENST00000374338.4	+	6	672	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	185	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACAAAGCCAGCCAAGA	0.617																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(553-555)Gcc>Acc		low density lipoprotein receptor adaptor protein 1							52.0	55.0	54.0					1																	25889581		2203	4300	6503	SO:0001583	missense	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25889581G>A	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.553G>A	1.37:g.25889581G>A	ENSP00000363458:p.Ala185Thr					LDLRAP1_ENST00000488127.1_3'UTR	p.A185T	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	6	672	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	185			PID.		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	c.553G>A	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903226	0.52333	.	.	ENSG00000157978	ENST00000374338	T	0.56611	0.45	5.51	4.59	0.56863	.	0.212969	0.49305	D	0.000151	T	0.40372	0.1114	L	0.42245	1.32	0.37099	D	0.899827	B;B	0.17038	0.02;0.007	B;B	0.12837	0.008;0.005	T	0.37056	-0.9722	10	0.21014	T	0.42	-13.9721	8.0099	0.30347	0.0821:0.0:0.7518:0.1661	.	185;185	B3KR97;Q5SW96	.;ARH_HUMAN	T	185	ENSP00000363458:A185T	ENSP00000363458:A185T	A	+	1	0	LDLRAP1	25762168	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.232000	0.32636	1.470000	0.48102	0.561000	0.74099	GCC		0.617	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		7	69	0	0	0	1	0	7	69				
P2RY2	5029	broad.mit.edu	37	11	72946198	72946198	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:72946198G>A	ENST00000311131.2	+	3	1461	c.994G>A	c.(994-996)Gct>Act	p.A332T	P2RY2_ENST00000393597.2_Missense_Mutation_p.A332T|P2RY2_ENST00000393596.2_Missense_Mutation_p.A332T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	332					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGCCACCCCGGCTCGCCGCAG	0.637																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(994-996)Gct>Act		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						30.0	34.0	33.0					11																	72946198		2196	4290	6486	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946198G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.994G>A	11.37:g.72946198G>A	ENSP00000310305:p.Ala332Thr					P2RY2_ENST00000393596.2_Missense_Mutation_p.A332T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A332T	p.A332T	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1461	+			332					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.994G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	3.977	-0.007268	0.07773	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.23754	1.89;1.89;1.89	4.44	1.43	0.22495	.	0.590493	0.16049	N	0.232058	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29027	-1.0025	10	0.27785	T	0.31	.	6.8662	0.24094	0.0964:0.3373:0.5663:0.0	.	332	P41231	P2RY2_HUMAN	T	332	ENSP00000377222:A332T;ENSP00000310305:A332T;ENSP00000377221:A332T	ENSP00000310305:A332T	A	+	1	0	P2RY2	72623846	0.008000	0.16893	0.001000	0.08648	0.005000	0.04900	0.786000	0.26844	0.088000	0.17205	-0.305000	0.09177	GCT		0.637	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		3	30	0	0	0	1	0	3	30				
SPANXN5	494197	broad.mit.edu	37	X	52825634	52825634	+	Missense_Mutation	SNP	G	G	A	rs150967779	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:52825634G>A	ENST00000375511.3	-	2	865	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	38										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TTTCAAACTCGGTTCGAGGAC	0.393																																						ENST00000375511.3																			0				large_intestine(1)|lung(5)|skin(2)	8						c.(112-114)cCg>cTg		SPANX family, member N5							173.0	148.0	156.0					X																	52825634		2203	4300	6503	SO:0001583	missense	494197							g.chrX:52825634G>A		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.113C>T	X.37:g.52825634G>A	ENSP00000364661:p.Pro38Leu						p.P38L	NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN			2	865	-	Ovarian(276;0.236)		38						Missense_Mutation	SNP	ENST00000375511.3	37	c.113C>T	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	g	4.512	0.094908	0.08681	.	.	ENSG00000204363	ENST00000375511	T	0.08634	3.07	0.122	0.122	0.14702	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	P	0.43412	0.806	B	0.34931	0.192	T	0.34775	-0.9815	7	0.59425	D	0.04	.	.	.	.	.	38	Q5MJ07	SPXN5_HUMAN	L	38	ENSP00000364661:P38L	ENSP00000364661:P38L	P	-	2	0	SPANXN5	52842359	0.039000	0.19947	0.041000	0.18516	0.041000	0.13682	0.227000	0.17795	0.180000	0.19960	0.182000	0.17080	CCG		0.393	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		11	46	0	0	0	1	0	11	46				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		4	92	0	0	0	1	0	4	92				
EXT1	2131	broad.mit.edu	37	8	119122902	119122902	+	Silent	SNP	G	G	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr8:119122902G>C	ENST00000378204.2	-	1	1190	c.384C>G	c.(382-384)gcC>gcG	p.A128A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	128					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTAACTTTCGGCGATTTTCT	0.512			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(382-384)gcC>gcG		exostosin glycosyltransferase 1							87.0	95.0	92.0					8																	119122902		2203	4300	6503	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122902G>C	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.384C>G	8.37:g.119122902G>C							p.A128A	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1190	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		128					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.384C>G	CCDS6324.1																																																																																				0.512	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		5	82	0	0	0	1	0	5	82				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		4	195	0	0	0	1	0	4	195				
IFT172	26160	broad.mit.edu	37	2	27669200	27669200	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr2:27669200G>C	ENST00000260570.3	-	43	4785	c.4682C>G	c.(4681-4683)tCt>tGt	p.S1561C	KRTCAP3_ENST00000543753.1_3'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1561					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAGTGAAACAGAAAGCCTGGC	0.507																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4681-4683)tCt>tGt		intraflagellar transport 172 homolog (Chlamydomonas)							90.0	87.0	88.0					2																	27669200		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27669200G>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4682C>G	2.37:g.27669200G>C	ENSP00000260570:p.Ser1561Cys					KRTCAP3_ENST00000543753.1_3'UTR	p.S1561C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			43	4785	-	Acute lymphoblastic leukemia(172;0.155)		1561					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4682C>G	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108151	0.56291	.	.	ENSG00000138002	ENST00000260570	T	0.52754	0.65	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.73372	2.23	0.80722	D	1	P	0.38800	0.648	B	0.43274	0.414	T	0.57213	-0.7850	10	0.46703	T	0.11	-10.4544	15.4403	0.75178	0.0:0.0:1.0:0.0	.	1561	Q9UG01	IF172_HUMAN	C	1561	ENSP00000260570:S1561C	ENSP00000260570:S1561C	S	-	2	0	IFT172	27522704	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.750000	0.91623	2.440000	0.82611	0.561000	0.74099	TCT		0.507	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		5	53	0	0	0	1	0	5	53				
PTCHD2	57540	broad.mit.edu	37	1	11562088	11562088	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:11562088G>A	ENST00000294484.6	+	2	1177	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E347K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	347					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTTTCCCACCGAGAGGGGCGG	0.642																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1039-1041)Gag>Aag		patched domain containing 2							33.0	36.0	35.0					1																	11562088		1906	4119	6025	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562088G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1039G>A	1.37:g.11562088G>A	ENSP00000294484:p.Glu347Lys					PTCHD2_ENST00000389575.3_Missense_Mutation_p.E347K	p.E347K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	1177	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	347					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1039G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957615	0.92726	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.57907	0.37;0.37	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	N	0.12182	0.205	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.56001	-0.8051	10	0.25751	T	0.34	-37.534	18.2403	0.89966	0.0:0.0:1.0:0.0	.	347	Q9P2K9	PTHD2_HUMAN	K	347	ENSP00000294484:E347K;ENSP00000374226:E347K	ENSP00000294484:E347K	E	+	1	0	PTCHD2	11484675	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.591000	0.82666	2.542000	0.85734	0.655000	0.94253	GAG		0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		5	25	0	0	0	1	0	5	25				
MIR7162	102466227	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695|rs540111016|rs370506651	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694				AC126323.1_ENST00000408214.1_RNA																							GGGGGCTCCGGGTAGGGGTTCA	0.609																																						ENST00000570077.1																			0																																																			0							g.chr15:62538522_62538523insGA																													15.37:g.62538522_62538523insGA														0	693_694	-									RNA	INS	ENST00000570077.1	37																																																																																						0.609	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			2	4						2	4	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129|rs372299573	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		7	50						7	50	---	---	---	---
CTB-180A7.3	0	broad.mit.edu	37	19	6350189	6350189	+	RNA	DEL	A	A	-			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr19:6350189delA	ENST00000595644.1	-	0	358																											aggggaggggagggaagggtc	0.582																																						ENST00000595644.1																			0																																																			0							g.chr19:6350189delA																													19.37:g.6350189delA														0	358	-									RNA	DEL	ENST00000595644.1	37																																																																																						0.582	CTB-180A7.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000452983.1			2	4						2	4	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		7	113						7	113	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	2						5	2	---	---	---	---
SRPK3	26576	broad.mit.edu	37	X	153049636	153049636	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:153049636delA	ENST00000370101.3	+	10	1161	c.1115delA	c.(1114-1116)cagfs	p.Q372fs	SRPK3_ENST00000370104.1_Frame_Shift_Del_p.Q371fs|SRPK3_ENST00000489426.1_Frame_Shift_Del_p.Q439fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.Q339fs|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000370100.1_Frame_Shift_Del_p.Q297fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.Q338fs	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCCAATCAGCGAGAGACC	0.662																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1315-1317)cgfs		SRSF protein kinase 3							38.0	37.0	38.0					X																	153049636		2202	4300	6502	SO:0001589	frameshift_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049636delA	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1115delA	X.37:g.153049636delA	ENSP00000359119:p.Gln372fs					SRPK3_ENST00000370101.3_Frame_Shift_Del_p.Q372fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.Q371fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.Q339fs|SRPK3_ENST00000370100.1_Frame_Shift_Del_p.Q297fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.Q338fs	p.Q439fs			Q9UPE1	SRPK3_HUMAN			16	3682	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		372			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Frame_Shift_Del	DEL	ENST00000370101.3	37	c.1316delA	CCDS35441.1																																																																																				0.662	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		8	31						8	31	---	---	---	---
